List of monogenic disorders and their associated genes
Monogenic disorders arise from mutations in a single gene, but variations within that gene or in multiple genes can also lead to similar phenotypes, typically following Mendelian inheritance patterns associated with specific genetic changes.
Monogenic disorders arise from mutations in a single gene, but variations within that gene or in multiple genes can also lead to similar phenotypes, typically following Mendelian inheritance patterns associated with specific genetic changes.
Monogenic disorders list based on single and multiple genes
| Disorder Name (Total=189) | Aliases | Category | Gene | Indian Reports | Link |
|---|---|---|---|---|---|
| Dentinogenesis imperfecta type 2 | Oral disorders |
DSPP dentin sialophosphoprotein |
Reports Updated as of Sep 15, 2022 |
PubMed | |
| Brooke-Spiegler syndrome |
•CYLD cutaneous syndrome |
Skin disorders |
CYLD CYLD lysine 63 deubiquitinase |
Reports Updated as of Sep 15, 2022 |
PubMed |
| Oromandibular-limb hypogenesis spectrum |
•Moebius syndrome |
Neurodevelopmental disorders |
SIM1 SIM bHLH transcription factor 1 EBF3 EBF transcription factor 3 CHN1 chimerin 1 |
Reports Updated as of Sep 15, 2022 |
PubMed |
| Alagille syndrome | Liver disorders |
JAG1 jagged canonical Notch ligand 1 NOTCH2 notch receptor 2 |
Reports Updated as of Sep 15, 2022 |
PubMed | |
| Paramyotonia congenita of Von Eulenburg |
•Myotonia congenita •Thomsen and Becker disease •Eulenburg disease |
Neuromuscular disorders |
SCN4A sodium voltage-gated channel alpha subunit 4 |
Reports Updated as of Sep 15, 2022 |
PubMed |
| Phelan-McDermid syndrome |
•Monosomy 22q13.3 •Phelan McDermid syndrome |
Neurodevelopmental disorders |
SHANK3 SH3 and multiple ankyrin repeat domains 3 |
Reports Updated as of Sep 15, 2022 |
PubMed |
| Craniodiaphyseal dysplasia, autosomal dominant |
•Lion face syndrome or leontiasis ossea |
Bone disorders |
SOST sclerostin |
Reports Updated as of Sep 15, 2022 |
PubMed |
| Angelman syndrome |
•Happy puppet syndrome |
Neurodevelopmental disorders |
UBE3A ubiquitin protein ligase E3A MECP2 methyl-CpG binding protein 2 CDKL5 cyclin dependent kinase like 5 HIVEP2 HIVEP zinc finger 2 GABRG3 gamma-aminobutyric acid type A receptor subunit gamma3 |
Reports Updated as of Sep 15, 2022 |
PubMed |
| Metaphyseal chondrodysplasia, Jansen type | Immune disorders |
PTH1R parathyroid hormone 1 receptor |
Reports Updated as of Sep 15, 2022 |
PubMed | |
| Familial Cold Autoinflammatory Syndrome |
•Cold urticaria |
Immune disorders |
NLRP12 NLR family pyrin domain containing 12 NLRP3 NLR family pyrin domain containing 3 PLCG2 phospholipase C gamma 2 NLRC4 NLR family CARD domain containing 4 |
Reports Updated as of Sep 15, 2022 |
PubMed |
| Acrocephalosyndactyly |
•Apert syndrome |
Bone disorders |
FGFR2 fibroblast growth factor receptor 2 |
Reports Updated as of Sep 15, 2022 |
PubMed |
| Fibrous dysplasia of jaw |
•Cherubism •CRBM |
Bone disorders |
SH3BP2 SH3 domain binding protein 2 |
Reports Updated as of Mar 09, 2023 |
PubMed |
| Gnathodiaphyseal dysplasia | Bone disorders |
ANO5 anoctamin 5 |
Reports Updated as of Mar 09, 2023 |
PubMed | |
| Familial juvenile hyperuricemic nephropathy type 1 | Nephrological disorders |
UMOD uromodulin |
Reports Updated as of Mar 09, 2023 |
PubMed | |
| Facioscapulohumeral muscular dystrophy |
•Landouzy-Dejerine dystrophy •FSH dystrophy |
Neuromuscular disorders |
SMCHD1 structural maintenance of chromosomes flexible hinge domain containing 1 DNMT3B DNA methyltransferase 3 beta LRIF1 ligand dependent nuclear receptor interacting factor 1 |
Reports Updated as of Mar 09, 2023 |
PubMed |
| Early-onset generalized limb-onset dystonia |
•Early-onset primary dystonia •Early-onset primary dystonia •Early-onset primary dystonia •Early onset primary dystonia |
Neuromuscular disorders |
TOR1A torsin family 1 member A |
Reports Updated as of Mar 09, 2023 |
PubMed |
| Dystonia 28 |
•DYT-KMT2B |
Neurodevelopmental disorders |
KMT2B lysine methyltransferase 2B |
Reports Updated as of Mar 09, 2023 |
PubMed |
| Cryopyrin associated periodic syndrome |
•Cryopyrin-associated periodic syndrome •CAPS •Cryopyrinopathy •NLRP3-associated systemic autoinflammatory disease |
Immune disorders |
NLRP3 NLR family pyrin domain containing 3 |
Reports Updated as of Mar 09, 2023 |
PubMed |
| Creutzfeldt-Jakob disease | Neurodegenerative disorders |
PRNP prion protein |
Reports Updated as of Mar 09, 2023 |
PubMed | |
| Congenital contractural arachnodactyly | Bone disorders |
FBN2 fibrillin 2 FBN1 fibrillin 1 |
Reports Updated as of Mar 09, 2023 |
PubMed | |
| BENTA disease |
•B-cell expansion with NFKB and T-cell anergy |
Immune disorders |
CARD11 caspase recruitment domain family member 11 |
Reports Updated as of Mar 09, 2023 |
PubMed |
| Bannayan-Riley-Ruvalcaba syndrome | Cancer disorders |
PTEN phosphatase and tensin homolog |
Reports Updated as of Mar 09, 2023 |
PubMed | |
| Episodic ataxia | Neuromuscular disorders |
CACNB4 calcium voltage-gated channel auxiliary subunit beta 4 CACNA1A calcium voltage-gated channel subunit alpha1 A SLC1A3 solute carrier family 1 member 3 KCNA1 potassium voltage-gated channel subfamily A member 1 SCN2A sodium voltage-gated channel alpha subunit 2 |
Reports Updated as of Mar 09, 2023 |
PubMed | |
| Noonan syndrome |
•MAP2K1-Related Noonan Syndrome •Noonan's syndrome •Pseudo-Turner syndrome |
Neurodevelopmental disorders |
SHOC2 SHOC2 leucine rich repeat scaffold protein RRAS2 RAS related 2 KRAS KRAS proto-oncogene, GTPase SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 PTPN11 protein tyrosine phosphatase non-receptor type 11 CBL Cbl proto-oncogene NRAS NRAS proto-oncogene, GTPase RAF1 Raf-1 proto-oncogene, serine/threonine kinase BRAF B-Raf proto-oncogene, serine/threonine kinase RIT1 Ras like without CAAX 1 SPRED1 sprouty related EVH1 domain containing 1 LZTR1 leucine zipper like post translational regulator 1 SOS2 SOS Ras/Rho guanine nucleotide exchange factor 2 PPP1CB protein phosphatase 1 catalytic subunit beta MAP2K1 mitogen-activated protein kinase kinase 1 A2ML1 alpha-2-macroglobulin like 1 RRAS RAS related MRAS muscle RAS oncogene homolog GJB2 gap junction protein beta 2 MAPK1 mitogen-activated protein kinase 1 CLTC clathrin heavy chain SPRED2 sprouty related EVH1 domain containing 2 MAP2K2 mitogen-activated protein kinase kinase 2 RASA2 RAS p21 protein activator 2 |
Reports Updated as of Mar 09, 2023 |
PubMed |
| Pseudohypoaldosteronism type 2 | Nephrological disorders |
WNK1 WNK lysine deficient protein kinase 1 WNK4 WNK lysine deficient protein kinase 4 CUL3 cullin 3 KLHL3 kelch like family member 3 |
Reports Updated as of Mar 09, 2023 |
PubMed | |
| Kabuki syndrome | Neurodevelopmental disorders |
KMT2D lysine methyltransferase 2D KDM6A lysine demethylase 6A KMT2A lysine methyltransferase 2A KMT2B lysine methyltransferase 2B |
Reports Updated as of Mar 09, 2023 |
PubMed | |
| Prader-willi syndrome | Neurodevelopmental disorders |
HERC2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 IPW imprinted in Prader-Willi syndrome MAGEL2 MAGE family member L2 MKRN3 makorin ring finger protein 3 SNORD115-1 small nucleolar RNA, C/D box 115-1 SNRPN small nuclear ribonucleoprotein polypeptide N NPAP1 nuclear pore associated protein 1 PWAR1 Prader Willi/Angelman region RNA 1 PWRN1 Prader-Willi region non-protein coding RNA 1 SNORD116-1 small nucleolar RNA, C/D box 116-1 |
Reports Updated as of Mar 09, 2023 |
PubMed | |
| Pfeiffer syndrome | Bone disorders |
FGFR2 fibroblast growth factor receptor 2 FGFR1 fibroblast growth factor receptor 1 |
Reports Updated as of Mar 09, 2023 |
PubMed | |
| Obsessive compulsive disorder | Neurodevelopmental disorders |
HTR2A 5-hydroxytryptamine receptor 2A SLC6A4 solute carrier family 6 member 4 HTR2C 5-hydroxytryptamine receptor 2C |
Reports Updated as of Mar 09, 2023 |
PubMed | |
| Sotos syndrome | Neurodevelopmental disorders |
NSD1 nuclear receptor binding SET domain protein 1 |
Reports Updated as of Mar 09, 2023 |
PubMed | |
| Hypoparathyroidism, deafness, renal disease syndrome |
•Barakat syndrome •Hypoparathyroidism-sensorineural deafness-renal disease syndrome |
Multisystemic disorders |
GATA3 GATA binding protein 3 |
Reports Updated as of Mar 09, 2023 |
PubMed |
| Hajdu-Cheney syndrome |
•Arthrodentoosteodysplasia •Acroosteolysis with osteoporosis and changes in skull and mandible |
Bone disorders |
NOTCH2 notch receptor 2 |
Reports Updated as of May 24, 2023 |
PubMed |
| Immune thrombocytopenia |
•Autoimmune thrombocytopenia •Immune thrombocytopenic purpura |
Blood disorders |
FCGR2B Fc gamma receptor IIb FCGR2C Fc gamma receptor IIc (gene/pseudogene) |
Reports Updated as of May 24, 2023 |
PubMed |
| Kleefstra syndrome | Neurodevelopmental disorders |
EHMT1 euchromatic histone lysine methyltransferase 1 KMT2C lysine methyltransferase 2C PAEP progestagen associated endometrial protein |
Reports Updated as of May 24, 2023 |
PubMed | |
| Lennox-Gastaut syndrome | Neurodevelopmental disorders |
GABRG2 gamma-aminobutyric acid type A receptor subunit gamma2 CHD2 chromodomain helicase DNA binding protein 2 DNM1 dynamin 1 |
Reports Updated as of May 24, 2023 |
PubMed | |
| Systemic lupus erythematosus |
•Lupus nephritis |
Immune disorders |
IRF5 interferon regulatory factor 5 BLK BLK proto-oncogene, Src family tyrosine kinase TREX1 three prime repair exonuclease 1 SOCS1 suppressor of cytokine signaling 1 TLR7 toll like receptor 7 |
Reports Updated as of May 24, 2023 |
PubMed |
| Shprintzen-Goldberg syndrome | Bone disorders |
SKI SKI proto-oncogene |
Reports Updated as of Sep 05, 2023 |
PubMed | |
| TNF receptor-associated periodic fever syndrome |
•TRAPS syndrome •Familial Hibernian fever •Tumor necrosis factor receptor 1 associated periodic syndrome |
Immune disorders |
TNFRSF1A TNF receptor superfamily member 1A |
Reports Updated as of Sep 05, 2023 |
PubMed |
| Tuberous Sclerosis | Tumor/Cancer |
TSC1 TSC complex subunit 1 TSC2 TSC complex subunit 2 SERPINC1 serpin family C member 1 |
Reports Updated as of Sep 05, 2023 |
PubMed | |
| Von Hippel-Lindau syndrome |
•Von Hippel-Lindau disease |
Cancer disorders |
VHL von Hippel-Lindau tumor suppressor |
Reports Updated as of Sep 05, 2023 |
PubMed |
| Waardenburg syndrome | Eye disorders / Ear disorders |
PAX3 paired box 3 SOX10 SRY-box transcription factor 10 MITF melanocyte inducing transcription factor EDNRB endothelin receptor type B EDN3 endothelin 3 KITLG KIT ligand |
Reports Updated as of Sep 05, 2023 |
PubMed | |
| Williams syndrome | Neurodevelopmental disorders |
ELN elastin |
Reports Updated as of Sep 05, 2023 |
PubMed | |
| Beckwith-Wiedemann syndrome | Developmental / Cancer |
CDKN1C cyclin dependent kinase inhibitor 1C NSD1 nuclear receptor binding SET domain protein 1 DNMT1 DNA methyltransferase 1 |
Reports Updated as of Sep 05, 2023 |
PubMed | |
| Coxopodopatellar syndrome |
•Pulmonary arterial hypertension |
Bone disorders |
TBX4 T-box transcription factor 4 |
Reports Updated as of Sep 05, 2023 |
PubMed |
| Isolated Pierre-Robin syndrome |
•Isolated Pierre Robin sequence |
Oral disorders |
SNRPB small nuclear ribonucleoprotein polypeptides B and B1 |
Reports Updated as of Sep 05, 2023 |
PubMed |
| Pemphigus vulgaris | Skin disorders |
HLA-DRB1 major histocompatibility complex, class II, DR beta 1 HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 HLA-B major histocompatibility complex, class I, B DSG3 desmoglein 3 ST18 ST18 C2H2C-type zinc finger transcription factor TNF tumor necrosis factor |
Reports Updated as of Sep 05, 2023 |
PubMed | |
| Oculodentodigital dysplasia | Bone disorders |
GJA1 gap junction protein alpha 1 |
Reports Updated as of Sep 05, 2023 |
PubMed | |
| Neurofibromatosis type 2 | Tumor/Cancer |
NF2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor |
Reports Updated as of Sep 05, 2023 |
PubMed | |
| Neurofibromatosis type 1 |
•Von Recklinghausen disease •Peripheral type neurofibromatosis |
Bone disorders |
NF1 neurofibromin 1 |
Reports Updated as of Sep 05, 2023 |
PubMed |
| Multiple endocrine neoplasia, type 1 |
•Wermer syndrome •Multiple endocrine neoplasia •Insulinoma |
Cancer disorders |
MEN1 menin 1 CDC73 cell division cycle 73 |
Reports Updated as of Sep 05, 2023 |
PubMed |
| Meniere disease |
•Meniere's disease •Ménière Disease |
Ear disorders |
FAM136A family with sequence similarity 136 member A DTNA dystrobrevin alpha MYO7A myosin VIIA CDH23 cadherin related 23 SHROOM2 shroom family member 2 TECTA tectorin alpha |
Reports Updated as of Sep 05, 2023 |
PubMed |
| Lynch syndrome | Cancer disorders |
MSH2 mutS homolog 2 MSH6 mutS homolog 6 PMS2 PMS1 homolog 2, mismatch repair system component EPCAM epithelial cell adhesion molecule MLH1 mutL homolog 1 MLH3 mutL homolog 3 RB1 RB transcriptional corepressor 1 PALB2 partner and localizer of BRCA2 ATM ATM serine/threonine kinase CHEK2 checkpoint kinase 2 |
Reports Updated as of Sep 05, 2023 |
PubMed | |
| Primary familial polycythemia due to EPO receptor mutation |
•Erythrocytosis •Primary familial polycythemia •Polycythemia •Primary congenital erythrocytosis |
Blood disorders |
EPOR erythropoietin receptor SH2B3 SH2B adaptor protein 3 |
Reports Updated as of Nov 02, 2023 |
PubMed |
| Van der Woude syndrome 1 |
•IRF6-Related disorders |
Oral disorders |
IRF6 interferon regulatory factor 6 GRHL3 grainyhead like transcription factor 3 |
Reports Updated as of Nov 02, 2023 |
PubMed |
| Van der Woude syndrome 2 |
•VWS2 |
Oral disorders |
GRHL3 grainyhead like transcription factor 3 |
Reports Updated as of Nov 02, 2023 |
PubMed |
| Camptomelic dysplasia |
•Campomelic dysplasia •Campomelic dwarfism |
Bone disorders |
SOX9 SRY-box transcription factor 9 |
Reports Updated as of Nov 02, 2023 |
PubMed |
| Autosomal dominant Robinow syndrome |
•Robinow dwarfism •Fetal face syndrome •Robinow syndrome |
Bone disorders |
WNT5A Wnt family member 5A DVL1 dishevelled segment polarity protein 1 DVL3 dishevelled segment polarity protein 3 FZD2 frizzled class receptor 2 CHN1 chimerin 1 |
Reports Updated as of Nov 02, 2023 |
PubMed |
| Spinocerebellar ataxia 12 | Neurodegenerative disorders |
PPP2R2B protein phosphatase 2 regulatory subunit Bbeta |
Reports Updated as of Nov 02, 2023 |
PubMed | |
| Silver-Russell syndrome |
•Silver-Russell dwarfism •Silver Russell syndrome |
Neurodevelopmental disorders |
CDKN1C cyclin dependent kinase inhibitor 1C IGF2 insulin like growth factor 2 PLAG1 PLAG1 zinc finger HMGA2 high mobility group AT-hook 2 |
Reports Updated as of Nov 02, 2023 |
PubMed |
| Retinoblastoma | Eye disorders |
RB1 RB transcriptional corepressor 1 FANCM FA complementation group M |
Reports Updated as of Nov 02, 2023 |
PubMed | |
| Somatotroph adenoma |
•Pituitary gigantism, Acromegaly •Acromegaly •Pituitary gigantism |
Endocrine disorders |
AIP aryl hydrocarbon receptor interacting protein MEN1 menin 1 |
Reports Updated as of Nov 10, 2023 |
PubMed |
| Thanatophoric dysplasia |
•Thanatophoric dwarfism •Thanatophoric dysplasia type 1 •Thanatophoric dysplasia type 2 |
Bone disorders |
FGFR3 fibroblast growth factor receptor 3 |
Reports Updated as of Nov 30, 2023 |
PubMed |
| Central core myopathy |
•Central core disease •Muscle core disease •Shy-Magee syndrome |
Neuromuscular disorders |
RYR1 ryanodine receptor 1 |
Reports Updated as of Nov 30, 2023 |
PubMed |
| Blue rubber bleb nevus |
•Bean syndrome •BRBN •Blue Rubber Bleb Nevus Syndrome |
Skin disorders |
GLMN glomulin, FKBP associated protein |
Reports Updated as of Nov 30, 2023 |
PubMed |
| Diamond-Blackfan anemia |
•Congenital hypoplastic anemia •Congenital pure red cell aplasia •Anemia congenital erythroid hypoplastic •Aase syndrome •Aregenerative anemia chronic congenital •Blackfan Diamond syndrome •Congenital hypoplastic anemia •Erythrogenesis imperfecta •Red cell aplasia, pure hereditary |
Blood disorders |
RPL11 ribosomal protein L11 RPS26 ribosomal protein S26 RPS7 ribosomal protein S7 RPL5 ribosomal protein L5 RPS10 ribosomal protein S10 RPS19 ribosomal protein S19 RPS24 ribosomal protein S24 RPS17 ribosomal protein S17 RPL35A ribosomal protein L35a RPL26 ribosomal protein L26 RPL15 ribosomal protein L15 RPS29 ribosomal protein S29 TSR2 TSR2 ribosome maturation factor RPS28 ribosomal protein S28 RPS27 ribosomal protein S27 RPL27 ribosomal protein L27 EPO erythropoietin TP53 tumor protein p53 RPS15A ribosomal protein S15a RPL18 ribosomal protein L18 RPL35 ribosomal protein L35 GATA1 GATA binding protein 1 RPS20 ribosomal protein S20 HEATR3 HEAT repeat containing 3 |
Reports Updated as of Nov 30, 2023 |
PubMed |
| Multiple fibrofolliculomas |
•Birt-Hogg-Dubé syndrome •BHD syndrome •Birt-Hogg-Dube syndrome |
Skin disorders |
FLCN folliculin |
Reports Updated as of Nov 30, 2023 |
PubMed |
| Blau syndrome |
•Arthrocutaneouveal granulomatosis |
Immune disorders |
NOD2 nucleotide binding oligomerization domain containing 2 |
Reports Updated as of Nov 30, 2023 |
PubMed |
| Infantile cortical hyperostosis |
•Caffey disease |
Bone disorders |
COL1A1 collagen type I alpha 1 chain A4GALT alpha 1,4-galactosyltransferase (P1PK blood group) |
Reports Updated as of Nov 30, 2023 |
PubMed |
| Steinert myotonic dystrophy syndrome |
•Steinert disease •Myotonic dystrophy 1 •Steinert myotonic dystrophy •Dystrophia myotonica •Myotonic dystrophy type 1 |
Neuromuscular disorders |
DMPK DM1 protein kinase |
Reports Updated as of Nov 30, 2023 |
PubMed |
| ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder |
•ADNP syndrome •HVDAS •Helsmoortel-Van Der Aa Syndrome |
Neurodevelopmental disorders |
ADNP activity dependent neuroprotector homeobox |
Reports Updated as of Nov 30, 2023 |
PubMed |
| Osteoglophonic dysplasia |
•Osteoglophonic Dwarfism |
Bone disorders |
FGFR1 fibroblast growth factor receptor 1 |
Reports Updated as of Nov 30, 2023 |
PubMed |
| Frontotemporal dementia |
•FTD |
Neurodegenerative disorders |
CHMP2B charged multivesicular body protein 2B TARDBP TAR DNA binding protein MAPT microtubule associated protein tau PSEN1 presenilin 1 VCP valosin containing protein C9orf72 C9orf72-SMCR8 complex subunit CHCHD10 coiled-coil-helix-coiled-coil-helix domain containing 10 SQSTM1 sequestosome 1 TBK1 TANK binding kinase 1 GRN granulin precursor MEF2C myocyte enhancer factor 2C CSF1R colony stimulating factor 1 receptor VPS13C vacuolar protein sorting 13 homolog C ABCA7 ATP binding cassette subfamily A member 7 KIF5A kinesin family member 5A CCNF cyclin F CYLD CYLD lysine 63 deubiquitinase TREM2 triggering receptor expressed on myeloid cells 2 HNRNPA2B1 heterogeneous nuclear ribonucleoprotein A2/B1 OPTN optineurin CHRNB4 cholinergic receptor nicotinic beta 4 subunit GLT8D1 glycosyltransferase 8 domain containing 1 |
Reports Updated as of Nov 30, 2023 |
PubMed |
| ADULT syndrome |
•Acro-dermato-ungual-lacrimal-tooth syndrome |
Skin disorders |
TP63 tumor protein p63 |
Reports Updated as of Nov 30, 2023 |
PubMed |
| Achondroplasia |
•Congenital Osteosclerosis •SADDAN syndrome •Achondroplastic Dwarfism •Saddan dysplasia |
Bone disorders |
FGFR3 fibroblast growth factor receptor 3 |
Reports Updated as of Nov 30, 2023 |
PubMed |
| Myotonic dystrophy type 2 |
•Proximal myotonic myopathy •Myotonic dystrophy 2 •Proximal myotonic dystrophy •Ricker disease •Ricker syndrome |
Neuromuscular disorders |
CNBP CCHC-type zinc finger nucleic acid binding protein |
Reports Updated as of Nov 30, 2023 |
PubMed |
| Doyne honeycomb retinal dystrophy |
•Familial drusen •Malattia leventinese |
Eye disorders |
EFEMP1 EGF containing fibulin extracellular matrix protein 1 |
Reports Updated as of Dec 07, 2023 |
PubMed |
| Keratosis follicularis |
•Darier disease •Darier-White Disease |
Skin disorders |
ATP2A2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 MBTPS2 membrane bound transcription factor peptidase, site 2 |
Reports Updated as of Dec 07, 2023 |
PubMed |
| Hereditary hemorrhagic telangiectasia |
•Osler Weber Rendu syndrome |
Blood disorders |
ENG endoglin ACVRL1 activin A receptor like type 1 |
Reports Updated as of Dec 07, 2023 |
PubMed |
| Greig cephalopolysyndactyly syndrome |
•Greig syndrome •GCPS |
Bone disorders |
GLI3 GLI family zinc finger 3 |
Reports Updated as of Dec 07, 2023 |
PubMed |
| Map-dot-fingerprint corneal dystrophy |
•Epithelial basement membrane dystrophy •Corneal epithelial dystrophy |
Eye disorders |
TGFBI transforming growth factor beta induced |
Reports Updated as of Dec 07, 2023 |
PubMed |
| Gastrointestinal stroma tumor |
•Gastrointestinal stromal sarcoma |
Cancer disorders |
PDGFRA platelet derived growth factor receptor alpha KIT KIT proto-oncogene, receptor tyrosine kinase SDHB succinate dehydrogenase complex iron sulfur subunit B SDHC succinate dehydrogenase complex subunit C SDHA succinate dehydrogenase complex flavoprotein subunit A |
Reports Updated as of Dec 07, 2023 |
PubMed |
| Floating-Harbor syndrome |
•Pelletier-Leisti syndrome |
Bone disorders |
SRCAP Snf2 related CREBBP activator protein |
Reports Updated as of Dec 07, 2023 |
PubMed |
| Steatocystoma multiplex |
•Sebocystomatosis •Multiple sebaceous cysts •Disseminated sebocystomatosis |
Skin disorders |
KRT17 keratin 17 |
Reports Updated as of Dec 29, 2023 |
PubMed |
| SHORT syndrome |
•Lipodystrophy-Rieger anomaly-diabetes syndrome |
Endocrine disorders |
PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 |
Reports Updated as of Dec 29, 2023 |
PubMed |
| Solitary median maxillary central incisor |
•Fused incisors •Single central incisor syndrome •Single central maxillary incisor •SMMCI syndrome |
Oral disorders |
SHH sonic hedgehog signaling molecule |
Reports Updated as of Dec 29, 2023 |
PubMed |
| STING-associated vasculopathy with onset in infancy |
•SAVI |
Immune disorders |
STING1 stimulator of interferon response cGAMP interactor 1 |
Reports Updated as of Dec 29, 2023 |
PubMed |
| Ichthyosis bullosa of Siemens |
•Superficial epidermolytic ichthyosis |
Skin disorders |
KRT2 keratin 2 |
Reports Updated as of Dec 29, 2023 |
PubMed |
| Supravalvar aortic stenosis |
•Supravalvular aortic stenosis •SVAS |
Cardiovascular disorders |
ELN elastin |
Reports Updated as of Dec 29, 2023 |
PubMed |
| Acute febrile neutrophilic dermatosis |
•Sweet Syndrome •Gomm Button disease |
Skin disorders |
MEFV MEFV innate immunity regulator, pyrin |
Reports Updated as of Dec 29, 2023 |
PubMed |
| Tetralogy of Fallot |
•Fallot tetralogy |
Cardiovascular disorders |
JAG1 jagged canonical Notch ligand 1 NKX2-5 NK2 homeobox 5 GATA4 GATA binding protein 4 GATA6 GATA binding protein 6 ZFPM2 zinc finger protein, FOG family member 2 EPHB4 EPH receptor B4 NOTCH1 notch receptor 1 TPM1 tropomyosin 1 TBX1 T-box transcription factor 1 NIPBL NIPBL cohesin loading factor MT-CO1 mitochondrially encoded cytochrome c oxidase I MT-CO2 mitochondrially encoded cytochrome c oxidase II MT-CO3 mitochondrially encoded cytochrome c oxidase III ROBO1 roundabout guidance receptor 1 FLNC filamin C |
Reports Updated as of Dec 29, 2023 |
PubMed |
| Trichorhinophalangeal syndrome |
•Trichorhinophalangeal dysplasia type I |
Bone disorders |
TRPS1 transcriptional repressor GATA binding 1 |
Reports Updated as of Dec 29, 2023 |
PubMed |
| Uveal melanoma |
•Intraocular melanoma •Melanoma of the Uvea |
Cancer disorders |
GNAQ G protein subunit alpha q BAP1 BRCA1 associated protein 1 |
Reports Updated as of Dec 29, 2023 |
PubMed |
| Severe myoclonic epilepsy in infancy |
•Dravet syndrome •Severe myoclonus epilepsy of infancy •SMEI |
Neurodevelopmental disorders |
SCN1A sodium voltage-gated channel alpha subunit 1 GABRG2 gamma-aminobutyric acid type A receptor subunit gamma2 SNX27 sorting nexin 27 SCN9A sodium voltage-gated channel alpha subunit 9 |
Reports Updated as of Dec 29, 2023 |
PubMed |
| Dowling-Degos disease |
•Reticular pigment anomaly of flexures |
Skin disorders |
KRT5 keratin 5 POFUT1 protein O-fucosyltransferase 1 POGLUT1 protein O-glucosyltransferase 1 |
Reports Updated as of Dec 29, 2023 |
PubMed |
| Familial medullary thyroid carcinoma |
•Medullary thyroid carcinoma •Medullary thyroid cancer |
Cancer disorders |
RET ret proto-oncogene NTRK1 neurotrophic receptor tyrosine kinase 1 |
Reports Updated as of Dec 29, 2023 |
PubMed |
| Syndromic microphthalmia type 5 |
•MCOPS5 •Syndromic microphthalmia due to OTX2 mutation |
Eye disorders |
OTX2 orthodenticle homeobox 2 |
Reports Updated as of Dec 29, 2023 |
PubMed |
| Variegate porphyria |
•Protoporphyrinogen oxidase deficiency •Porphyria variegata |
Metabolic disorders |
PPOX protoporphyrinogen oxidase |
Reports Updated as of Jan 04, 2024 |
PubMed |
| Morning glory disc anomaly |
•Ectasic coloboma •Morning glory syndrome |
Eye disorders |
PAX6 paired box 6 |
Reports Updated as of Jan 04, 2024 |
PubMed |
| Porokeratosis of Mibelli |
•Porokeratosis, Mibelli |
Skin disorders |
PMVK phosphomevalonate kinase |
Reports Updated as of Jan 04, 2024 |
PubMed |
| Piebaldism |
•Partial albinism |
Skin disorders |
KIT KIT proto-oncogene, receptor tyrosine kinase |
Reports Updated as of Jan 04, 2024 |
PubMed |
| Perry syndrome |
•Parkinsonism with alveolar hypoventilation and mental depression |
Neurodegenerative disorders |
DCTN1 dynactin subunit 1 |
Reports Updated as of Jan 04, 2024 |
PubMed |
| Choroid plexus papilloma |
•Papilloma of choroid plexus •CPP |
Cancer disorders |
TP53 tumor protein p53 |
Reports Updated as of Jan 04, 2024 |
PubMed |
| Papillary renal cell carcinoma |
•Papillary renal cell adenocarcinom |
Cancer disorders |
VHL von Hippel-Lindau tumor suppressor MET MET proto-oncogene, receptor tyrosine kinase SDHB succinate dehydrogenase complex iron sulfur subunit B PTEN phosphatase and tensin homolog ERBB2 erb-b2 receptor tyrosine kinase 2 ARAF A-Raf proto-oncogene, serine/threonine kinase BRAF B-Raf proto-oncogene, serine/threonine kinase PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha RHEB Ras homolog, mTORC1 binding ELOC elongin C TP53 tumor protein p53 MTOR mechanistic target of rapamycin kinase |
Reports Updated as of Jan 04, 2024 |
PubMed |
| Pachyonychia congenita | Skin disorders |
KRT17 keratin 17 KRT16 keratin 16 KRT6B keratin 6B KRT6A keratin 6A |
Reports Updated as of Jan 04, 2024 |
PubMed | |
| Overhydrated hereditary stomatocytosis |
•Potassium sodium disorder of erythrocyte •Stomatocytosis I |
Blood disorders |
RHAG Rh associated glycoprotein |
Reports Updated as of Jan 04, 2024 |
PubMed |
| Osteofibrous dysplasia | Bone disorders |
MET MET proto-oncogene, receptor tyrosine kinase |
Reports Updated as of Jan 04, 2024 |
PubMed | |
| Hereditary lymphedema type I |
•Milroy disease •Congenital hereditary lymphedema •Early onset lymphedema |
Cardiovascular disorders |
FLT4 fms related receptor tyrosine kinase 4 EPHB4 EPH receptor B4 |
Reports Updated as of Jan 04, 2024 |
PubMed |
| Maturity onset diabetes mellitus in young (MODY) |
•Familial hyperinsulinism •Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young •Maturity-onset diabetes of the young type 1 |
Metabolic disorders |
HNF4A hepatocyte nuclear factor 4 alpha |
Reports Updated as of Jan 04, 2024 |
PubMed |
| Primary erythromelalgia |
•SCN9A-Related Inherited Erythromelalgia •Primary erythermalgia •Erythermalgia, primary |
Neurodevelopmental disorders |
SCN9A sodium voltage-gated channel alpha subunit 9 |
Reports Updated as of Jan 04, 2024 |
PubMed |
| Sea-blue histiocyte syndrome |
•Sea-blue histiocytosis •Inherited Lipemic Splenomegaly •Sea-Blue histiocyte disease |
Metabolic disorders/Lysosomal storage disorders |
APOE apolipoprotein E |
Reports Updated as of Jan 04, 2024 |
PubMed |
| Schwannomatosis |
•Neurilemmomatosis •Neurofibromatosis •Neurofibroma •Schwannoma |
Cancer disorders |
NF2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 LZTR1 leucine zipper like post translational regulator 1 |
Reports Updated as of Jan 04, 2024 |
PubMed |
| Schnyder crystalline corneal dystrophy |
•Crystalline stromal dystrophy •Schnyder corneal dystrophy •Schnyder's crystalline corneal dystrophy |
Eye disorders |
UBIAD1 UbiA prenyltransferase domain containing 1 |
Reports Updated as of Jan 04, 2024 |
PubMed |
| Sarcoidosis |
•Besnier-Boeck-Schaumann disease •Boeck sarcoid |
Immune disorders |
BTNL2 butyrophilin like 2 |
Reports Updated as of Jan 04, 2024 |
PubMed |
| Renal coloboma syndrome |
•Coloboma of optic nerve with renal disease •Optic nerve coloboma with renal disease •Papillorenal syndrome |
Eye disorders |
PAX2 paired box 2 |
Reports Updated as of Jan 04, 2024 |
PubMed |
| Dystonia 12 |
•Rapid-onset dystonia-parkinsonism •DYT-ATP1A3 |
Neurodevelopmental disorders |
ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 |
Reports Updated as of Jan 04, 2024 |
PubMed |
| Pseudopseudohypoparathyroidism |
•AHO-PPHP syndrome •Albright hereditary osteodystrophy-PPHP syndrome •Albright hereditary osteodystrophy without multiple hormone resistance |
Endocrine disorders |
GNAS GNAS complex locus |
Reports Updated as of Jan 04, 2024 |
PubMed |
| Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome |
•Pseudoachondroplasia •Pseudoachondroplastic dysplasia |
Bone disorders |
COMP cartilage oligomeric matrix protein |
Reports Updated as of Jan 04, 2024 |
PubMed |
| Prolactin-producing pituitary gland adenoma |
•Prolactinoma •Prolactinoma, familial •Pituitary prolactin cell adenoma |
Endocrine disorders |
LRP2 LDL receptor related protein 2 |
Reports Updated as of Jan 04, 2024 |
PubMed |
| Progressive osseous heteroplasia |
•Familial ectopic ossification • POH |
Bone disorders |
GNAS GNAS complex locus |
Reports Updated as of Jan 04, 2024 |
PubMed |
| Familial partial lipodystrophy |
•Familial partial lipodystrophy, Dunnigan type •FPLD |
Metabolic disorders |
LMNA lamin A/C |
Reports Updated as of Jan 04, 2024 |
PubMed |
| Acute intermittent porphyria |
•Acute Porphyria •HMBS deficiency •Hydroxymethylbilane Synthase Deficiency •Porphobilinogen deaminase deficiency •Uroporphyrinogen synthase deficiency |
Metabolic disorders |
HMBS hydroxymethylbilane synthase ABCB6 ATP binding cassette subfamily B member 6 (LAN blood group) |
Reports Updated as of Feb 01, 2024 |
PubMed |
| Adams-Oliver syndrome 1 |
•Congenital scalp defects with distal limb reduction anomalies •Adams-Oliver syndrome •Forrest H Adams syndrome •Scalp and head syndrome •Scalp defects with ectrodactyly |
Bone disorders |
ARHGAP31 Rho GTPase activating protein 31 |
Reports Updated as of Feb 01, 2024 |
PubMed |
| Acrodysostosis |
•Arkless-Graham syndrome •Maroteaux-Malamut syndrome •Acrodysplasia |
Bone disorders |
PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha PDE4D phosphodiesterase 4D |
Reports Updated as of Feb 01, 2024 |
PubMed |
| Lacrimoauriculodentodigital syndrome |
•LADD syndrome •Lacrimo-auriculo-dento-digital syndrome •LARD syndrome •Lacrimoauriculoradiodental syndrome |
Oral disorders |
FGF10 fibroblast growth factor 10 |
Reports Updated as of Feb 01, 2024 |
PubMed |
| Lateral meningocele syndrome |
•Lehman syndrome |
Neurodevelopmental disorders |
NOTCH3 notch receptor 3 |
Reports Updated as of Feb 01, 2024 |
PubMed |
| Beaded hair |
•Monilethrix •Nodose hair •Moniliform hair syndrome |
Hair disorders |
KRT83 keratin 83 KRT81 keratin 81 KRT86 keratin 86 |
Reports Updated as of Feb 01, 2024 |
PubMed |
| Metatropic dysplasia |
•Metatropic skeletal dysplasia •Metatropic dwarfism |
Bone disorders |
TRPV4 transient receptor potential cation channel subfamily V member 4 |
Reports Updated as of Feb 01, 2024 |
PubMed |
| Metachondromatosis | Bone disorders |
PTPN11 protein tyrosine phosphatase non-receptor type 11 |
Reports Updated as of Feb 01, 2024 |
PubMed | |
| Aplasia cutis congenita |
•Scalp defect congenital •Aplasia cutis congenita nonsyndromic |
Skin disorders |
BMS1 BMS1 ribosome biogenesis factor |
Reports Updated as of Feb 01, 2024 |
PubMed |
| Familial amyloid nephropathy with urticaria and deafness |
•Muckle-Wells syndrome •Neutrophilic urticaria •Urticaria, deafness and amyloidosis •UDA syndrome |
Nephrological disorders |
NLRP3 NLR family pyrin domain containing 3 |
Reports Updated as of Feb 01, 2024 |
PubMed |
| Muenke syndrome |
•FGFR3-Related craniosynostosis •Syndrome of coronal craniosynostosis •Muenke nonsyndromic coronal craniosynostosis |
Bone disorders |
FGFR3 fibroblast growth factor receptor 3 |
Reports Updated as of Feb 01, 2024 |
PubMed |
| Muir-Torré syndrome |
•Multiple keratoacanthoma •Muir-Torre syndrome |
Cancer disorders |
MSH2 mutS homolog 2 MLH1 mutL homolog 1 |
Reports Updated as of Feb 01, 2024 |
PubMed |
| Myhre syndrome |
•Growth mental deficiency syndrome of Myhre •LAPS syndrome |
Bone disorders |
SMAD4 SMAD family member 4 |
Reports Updated as of Feb 01, 2024 |
PubMed |
| MYH9-related disorder |
•May-Hegglin anomaly •Sebastian platelet syndrome •Sebastian syndrome •MYH9-related syndromic thrombocytopenia |
Blood disorders |
MYH9 myosin heavy chain 9 |
Reports Updated as of Feb 01, 2024 |
PubMed |
| Tarsal-carpal coalition syndrome | Bone disorders |
NOG noggin |
Reports Updated as of Feb 01, 2024 |
PubMed | |
| Multiple congenital exostosis |
•Multiple osteochondromas •Hereditary multiple exostosis •Multiple exostoses |
Bone disorders |
EXT1 exostosin glycosyltransferase 1 |
Reports Updated as of Feb 01, 2024 |
PubMed |
| Nager syndrome |
•Nager acrofacial dysostosis •Preaxial acrofacial dysostosis •Split hand deformity-mandibulofacial dysostosis |
Bone disorders |
SF3B4 splicing factor 3b subunit 4 |
Reports Updated as of Feb 01, 2024 |
PubMed |
| Naegeli-Franceschetti-Jadassohn syndrome |
•Reticular skin changes, dental anomalies, decreased function of sweat glands, strabismus, and optic atrophy •NFJ syndrome |
Skin disorders |
KRT14 keratin 14 |
Reports Updated as of Feb 01, 2024 |
PubMed |
| Nail-patella syndrome |
•Onychoosteodysplasia •Arthro-Onychodysplasia •Fong disease •Turner-Kieser syndrome |
Bone disorders |
LMX1B LIM homeobox transcription factor 1 beta |
Reports Updated as of Feb 01, 2024 |
PubMed |
| Deafness-lymphedema-leukemia syndrome |
•Emberger syndrome •Hearing loss-lymphedema-leukemia syndrome |
Immune disorders |
GATA2 GATA binding protein 2 |
Reports Updated as of Feb 01, 2024 |
PubMed |
| Marfan syndrome |
•FBN1-Related Thoracic Aortic Aneurysms and Aortic Dissections •Marfan syndrome type 1 •Marfan syndrome, classic •Marfan's syndrome |
Cardiovascular disorders |
FBN1 fibrillin 1 COL1A2 collagen type I alpha 2 chain LTBP2 latent transforming growth factor beta binding protein 2 TGFBR2 transforming growth factor beta receptor 2 COL5A2 collagen type V alpha 2 chain NOTCH1 notch receptor 1 TGFB2 transforming growth factor beta 2 |
Reports Updated as of Feb 20, 2024 |
PubMed |
| Familial spontaneous pneumothorax |
•Pneumothorax, primary spontaneous |
Respiratory disorders |
FLCN folliculin |
Reports Updated as of Feb 20, 2024 |
PubMed |
| Long QT syndrome | Cardiovascular disorders |
SCN4B sodium voltage-gated channel beta subunit 4 KCNQ1 potassium voltage-gated channel subfamily Q member 1 AKAP9 A-kinase anchoring protein 9 KCNE2 potassium voltage-gated channel subfamily E regulatory subunit 2 CAV3 caveolin 3 SNTA1 syntrophin alpha 1 KCNJ5 potassium inwardly rectifying channel subfamily J member 5 SCN5A sodium voltage-gated channel alpha subunit 5 KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 KCNH2 potassium voltage-gated channel subfamily H member 2 ANK2 ankyrin 2 CALM2 calmodulin 2 CACNA1C calcium voltage-gated channel subunit alpha1 C KCNJ2 potassium inwardly rectifying channel subfamily J member 2 RYR2 ryanodine receptor 2 TRPM4 transient receptor potential cation channel subfamily M member 4 CALM1 calmodulin 1 PKP2 plakophilin 2 CALM3 calmodulin 3 MYPN myopalladin RNF207 ring finger protein 207 CACNA1S calcium voltage-gated channel subunit alpha1 S MYH6 myosin heavy chain 6 MYBPC3 myosin binding protein C3 DSG2 desmoglein 2 CTNNA3 catenin alpha 3 |
Reports Updated as of Feb 20, 2024 |
PubMed | |
| Hypokalemic periodic paralysis, type 1 |
•Westphall disease •Hypokalemic periodic paralysis |
Metabolic disorders |
CACNA1S calcium voltage-gated channel subunit alpha1 S CLCN1 chloride voltage-gated channel 1 |
Reports Updated as of Feb 20, 2024 |
PubMed |
| Spinocerebellar ataxia type 40 | Neurodegenerative disorders |
CCDC88C coiled-coil domain containing 88C |
Reports Updated as of Apr 17, 2024 |
PubMed | |
| Spinocerebellar ataxia 46 |
•Spinocerebellar ataxia type 46 |
Neurodegenerative disorders |
PLD3 phospholipase D family member 3 |
Reports Updated as of Apr 17, 2024 |
PubMed |
| Spinocerebellar ataxia type 42 | Neurodegenerative disorders |
CACNA1G calcium voltage-gated channel subunit alpha1 G |
Reports Updated as of Apr 17, 2024 |
PubMed | |
| Spinocerebellar ataxia type 35 | Neurodegenerative disorders |
TGM6 transglutaminase 6 |
Reports Updated as of Apr 17, 2024 |
PubMed | |
| Spinocerebellar ataxia type 34 |
•Giroux barbeau syndrome •SCA34 |
Neurodegenerative disorders |
ELOVL4 ELOVL fatty acid elongase 4 |
Reports Updated as of Apr 17, 2024 |
PubMed |
| Spinocerebellar ataxia type 28 |
•SCA28 |
Neurodegenerative disorders |
AFG3L2 AFG3 like matrix AAA peptidase subunit 2 |
Reports Updated as of Apr 17, 2024 |
PubMed |
| Spinocerebellar ataxia type 21 |
•SCA21 |
Neurodegenerative disorders |
TMEM240 transmembrane protein 240 |
Reports Updated as of Apr 17, 2024 |
PubMed |
| Spinocerebellar ataxia type 20 |
•Autosomal recessive spinocerebellar ataxia 20 •SCA20 |
Neurodegenerative disorders |
SNX14 sorting nexin 14 |
Reports Updated as of Apr 17, 2024 |
PubMed |
| Spinocerebellar ataxia type 18 |
•Sensorimotor neuropathy with ataxia, autosomal dominant •SCA18 |
Neurodegenerative disorders |
IFRD1 interferon related developmental regulator 1 |
Reports Updated as of Apr 17, 2024 |
PubMed |
| Spinocerebellar ataxia type 14 | Neurodegenerative disorders |
PRKCG protein kinase C gamma |
Reports Updated as of Apr 17, 2024 |
PubMed | |
| Spinocerebellar ataxia type 10 | Neurodegenerative disorders |
ATXN10 ataxin 10 |
Reports Updated as of Apr 17, 2024 |
PubMed | |
| Spinocerebellar ataxia type 8 | Neurodegenerative disorders |
ATXN8OS ATXN8 opposite strand lncRNA |
Reports Updated as of Apr 17, 2024 |
PubMed | |
| Spinocerebellar ataxia type 7 |
•Ataxia with pigmentary retinopathy •Cerebellar syndrome-pigmentary maculopathy syndrome •SCA7 |
Neurodegenerative disorders |
ATXN7 ataxin 7 |
Reports Updated as of Apr 17, 2024 |
PubMed |
| Spinocerebellar ataxia type 6 | Neurodegenerative disorders |
CACNA1A calcium voltage-gated channel subunit alpha1 A |
Reports Updated as of Apr 17, 2024 |
PubMed | |
| Spinocerebellar ataxia type 5 | Neurodegenerative disorders |
SPTBN2 spectrin beta, non-erythrocytic 2 |
Reports Updated as of Apr 17, 2024 |
PubMed | |
| Spinocerebellar ataxia type 2 |
•Olivopontocerebellar atrophy 2 •Olivopontocerebellar atrophy Holguin type •Spinocerebellar ataxia Cuban type •Spinocerebellar ataxia with slow eye movements •Wadia Swami syndrome |
Neurodegenerative disorders |
ATXN2 ataxin 2 |
Reports Updated as of Apr 17, 2024 |
PubMed |
| Spinocerebellar ataxia type 1 |
•Cerebelloparenchymal disorder 1 •Olivopontocerebellar atrophy 1 •Olivopontocerebellar atrophy 4 •Spinocerebellar atrophy 1 |
Neurodegenerative disorders |
ATXN1 ataxin 1 |
Reports Updated as of Apr 17, 2024 |
PubMed |
| Spinocerebellar ataxia type 17 |
•Huntington disease-like 4 •Cerebelloparenchymal disorder II •Olivopontocerebellar atrophy 5 •SCA 17 |
Neurodegenerative disorders |
TBP TATA-box binding protein |
Reports Updated as of Apr 17, 2024 |
PubMed |
| Cheilitis glandularis | Skin disorders |
CAST calpastatin |
Reports Updated as of Jul 20, 2024 |
PubMed | |
| Cowden Syndrome |
•Multiple hamartoma syndrome •Cowden disease •Cowden's disease •Cowden's syndrome |
Cancer disorders |
PTEN phosphatase and tensin homolog AKT1 AKT serine/threonine kinase 1 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha SDHD succinate dehydrogenase complex subunit D EGFR epidermal growth factor receptor SDHB succinate dehydrogenase complex iron sulfur subunit B SEC23B SEC23 homolog B, COPII coat complex component |
Reports Updated as of Jul 20, 2024 |
PubMed |
| Li-Fraumeni syndrome |
•Sarcoma family syndrome of Li and Fraumeni |
Cancer disorders |
CHEK2 checkpoint kinase 2 TP53 tumor protein p53 |
Reports Updated as of Jul 20, 2024 |
PubMed |
| Peutz-Jeghers syndrome |
•Hamartomatous intestinal polyposis •Periorificial lentiginosis syndrome •Lentiginosis, perioral •Peutz-Jeghers polyposis •Polyposis, hamartomatous intestinal •Polyps-and-spots syndrome |
Gastrointestinal disorders |
STK11 serine/threonine kinase 11 |
Reports Updated as of Jul 20, 2024 |
PubMed |
| Hereditary pancreatitis |
•Hereditary chronic pancreatitis |
Gastrointestinal disorders |
PRSS1 serine protease 1 SPINK1 serine peptidase inhibitor Kazal type 1 CFTR CF transmembrane conductance regulator CTRC chymotrypsin C CPA1 carboxypeptidase A1 |
Reports Updated as of Jul 20, 2024 |
PubMed |
| Spinocerebellar ataxia type 27 |
•Cerebellar ataxia autosomal dominant FGF14-related •Spinocerebellar ataxia 27b, Late-Onset (SCA27B) |
Neurodegenerative disorders |
FGF14 fibroblast growth factor 14 |
Reports Updated as of Jul 20, 2024 |
PubMed |
| Autosomal dominant hypocalcemia |
•AD hypocalcemia |
Metabolic disorders |
CASR calcium sensing receptor GNA11 G protein subunit alpha 11 |
Reports Updated as of Jul 20, 2024 |
PubMed |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 |
•PEOA5 •Chronic Progressive External Ophthalmoplegia with Multiple mtDNA Deletions •Progressive external ophthalmoplegia, autosomal dominant 5 •RRM2B-Related chronic [rogressive external ophthalmoplegia with multiple mtDNA deletions |
Metabolic disorders |
RRM2B ribonucleotide reductase regulatory TP53 inducible subunit M2B |
Reports Updated as of Jul 20, 2024 |
PubMed |
| Hereditary breast ovarian cancer syndrome |
•Familial susceptibility to Breast-Ovarian cancer •BRCA-related cancer •Breast-ovarian cancer, familial, susceptibility •Breast and ovarian cancer •Hereditary breast and ovarian cancer •Hereditary breast and ovarian cancer syndrome •Hereditary breast and ovarian cancer syndrome (HBOC) •Breast-ovarian cancer, familial, susceptibility to, 1 •Breast-ovarian cancer, familial, susceptibility to, 2 |
Cancer disorders |
BRCA2 BRCA2 DNA repair associated BRCA1 BRCA1 DNA repair associated ATM ATM serine/threonine kinase RAD51B RAD51 paralog B BRIP1 BRCA1 interacting helicase 1 ABRAXAS1 abraxas 1, BRCA1 A complex subunit NBN nibrin PALB2 partner and localizer of BRCA2 CHEK2 checkpoint kinase 2 RAD51D RAD51 paralog D TP53 tumor protein p53 FANCM FA complementation group M XRCC2 X-ray repair cross complementing 2 VRK1 VRK serine/threonine kinase 1 FAN1 FANCD2 and FANCI associated nuclease 1 NF1 neurofibromin 1 MSH2 mutS homolog 2 MLH1 mutL homolog 1 RAD50 RAD50 double strand break repair protein RINT1 RAD50 interactor 1 RECQL RecQ like helicase BLM BLM RecQ like helicase RAD51C RAD51 paralog C EXO1 exonuclease 1 MUTYH mutY DNA glycosylase RAD54L RAD54 like CTNNA2 catenin alpha 2 MITF melanocyte inducing transcription factor SLC34A2 solute carrier family 34 member 2 CTNNA1 catenin alpha 1 DROSHA drosha ribonuclease III PLK2 polo like kinase 2 RIPK1 receptor interacting serine/threonine kinase 1 PTCH1 patched 1 ERCC6 ERCC excision repair 6, chromatin remodeling factor KRAS KRAS proto-oncogene, GTPase LCP1 lymphocyte cytosolic protein 1 HERPUD1 homocysteine inducible ER protein with ubiquitin like domain 1 BCAR1 BCAR1 scaffold protein, Cas family member FLCN folliculin FLNA filamin A BARD1 BRCA1 associated RING domain 1 FANCD2 FA complementation group D2 PNPT1 polyribonucleotide nucleotidyltransferase 1 |
Reports Updated as of Jul 20, 2024 |
PubMed |
| Schuurs-Hoeijmakers syndrome |
•Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome •PACS1-related syndrome •Autosomal Dominant Mental Retardation Syndrome type 17 (MRD17) •Mental Retardation, Autosomal Dominant 17 |
Neurodevelopmental disorders |
PACS1 phosphofurin acidic cluster sorting protein 1 |
Reports Updated as of Jul 20, 2024 |
PubMed |
| Autosomal dominant osteopetrosis 2 |
•Albers-Schönberg osteopetrosis •Albers-Schoenberg disease •Osteosclerosis fragilis generalisata •Albers-Schonberg disease, Autosomal Dominant •Autosomal Dominant Osteopetrosis Type II •Marble bones •Osteopetroses •Osteosclerosis fragilis |
Bone disorders |
CLCN7 chloride voltage-gated channel 7 |
Reports Updated as of Jul 20, 2024 |
PubMed |
| Autosomal dominant polycystic kidney disease |
•ADPKD |
Nephrological disorders |
PKD2 polycystin 2, transient receptor potential cation channel PKD1 polycystin 1, transient receptor potential channel interacting GANAB glucosidase II alpha subunit DNAJB11 DnaJ heat shock protein family (Hsp40) member B11 |
Reports Updated as of Jul 20, 2024 |
PubMed |
| Leucine-induced hypoglycemia |
•Familial infantile hypoglycemia precipitated by leucine •Leucine-sensitive hypoglycemia of infancy |
Metabolic disorders |
ABCC8 ATP binding cassette subfamily C member 8 |
Reports Updated as of Jul 20, 2024 |
PubMed |
| Familial benign pemphigus |
•Hailey-Hailey disease •Hailey Hailey disease •Familial benign chronic pemphigus •Benign chronic familial pemphigus of Hailey-Hailey •Benign Chronic Pemphigus |
Skin disorders |
ATP2C1 ATPase secretory pathway Ca2+ transporting 1 |
Reports Updated as of Jul 20, 2024 |
PubMed |
| Hyperkalemic periodic paralysis |
•Familial hyperkalemic periodic paralysis •Gamstorp disease •adynamia episodica hereditaria with or without myotonia •familial hyperkalemic periodic paralysis •familial hyperkalemic periodic paralysis •Gamstorp episodic adynamy |
Metabolic disorders |
SCN4A sodium voltage-gated channel alpha subunit 4 CLCN1 chloride voltage-gated channel 1 |
Reports Updated as of Feb 01, 2025 |
PubMed |
| Myoclonic dystonia 11 |
•Alcohol-responsive dystonia •SGCE myoclonus-dystonia syndrome •dystonia-11, myoclonic •myoclonic dystonia type 11 •myoclonus-dystonia syndrome caused by mutation in SGCE •DYT-SGCE •Dystonia 11 •Dystonia, alcohol responsive •Hereditary essential myoclonus •Myoclonic dystonia |
Neuromuscular disorders |
SGCE sarcoglycan epsilon |
Reports Updated as of Feb 01, 2025 |
PubMed |
| Amyotrophic neuralgia |
•hereditary brachial plexus neuropathy •amyotrophy, hereditary neuralgic •amyotrophy, hereditary neuralgic, with predilection for brachial plexus •brachial plexus neuropathy, hereditary •hereditary neuralgic amyotrophy •neuritis with brachial predilection |
Neuromuscular disorders |
SEPTIN9 septin 9 |
Reports Updated as of Feb 01, 2025 |
PubMed |
| Hereditary angioedema with C1Inh deficiency |
•Angioedema, hereditary, 1 and 2 •HAE with C1Inh deficiency •angioedema, hereditary, type 1/2 |
Immune disorders |
SERPING1 serpin family G member 1 |
Reports Updated as of Feb 01, 2025 |
PubMed |
| Hereditary liability to pressure palsies |
•Hereditary neuropathy with liability to pressure palsies •current pressure-sensitive neuropathy •familial recurrent polyneuropathy •hereditary liability to pressure palsies •heterozygous microdeletion 17p11.2p12 •HNPP •neuropathy, recurrent, with pressure palsies •potato-grubbing palsy •tomaculous neuropathy •tulip-bulb digger's palsy •hereditary neuropathy with liability to pressure palsy •polyneuropathy, familial recurrent |
Neuromuscular disorders |
PMP22 peripheral myelin protein 22 |
Reports Updated as of Feb 01, 2025 |
PubMed |
| Congenital fibrosis of extraocular muscles type 1 |
•Blepharoptosis with absent eye movements •congenital fibrosis of extraocular muscles •congenital fibrosis of the extraocular muscles •FEOM •fibrosis of extraocular muscles, congenital •fibrosis of extraocular muscles, congenital, type 1 •congenital fibrosis of the extraocular muscles 1a •FEOM1 Locus •KIF21A-related congenital fibrosis of the extraocular muscles •ophthalmoplegia, congenital |
Neuromuscular disorders |
KIF21A kinesin family member 21A |
Reports Updated as of Feb 01, 2025 |
PubMed |
| Myopathy, tubular aggregate, 1 |
•Tubular aggregate myopathy •myopathy, tubular aggregate, type 1 |
Neuromuscular disorders |
STIM1 stromal interaction molecule 1 |
Reports Updated as of Feb 01, 2025 |
PubMed |
| Klippel-Feil syndrome |
•Cervical C2/C3 vertebral fusion •Klippel Feil syndrome autosomal dominant •cervical vertebral fusion autosomal dominant •cervical vertebral fusion autosomal recessive •Klippel-Feil Sequence |
Bone disorders |
GDF6 growth differentiation factor 6 GDF3 growth differentiation factor 3 MEOX1 mesenchyme homeobox 1 RIPPLY2 ripply transcriptional repressor 2 MYO18B myosin XVIIIB |
Reports Updated as of Feb 01, 2025 |
PubMed |
| Progressive myositis ossificans |
•Fibrodysplasia ossificans progressiva •Stone man syndrome •FOP •myositis ossificans progressiva •progressive ossifying myositis •progressive myositis ossificans |
Neuromuscular disorders |
ACVR1 activin A receptor type 1 |
Reports Updated as of Feb 01, 2025 |
PubMed |
| Cardiomyopathy, familial restrictive, 1 |
•TNNI3-Related Familial Restrictive Cardiomyopathy |
Cardiovascular disorders |
TNNI3 troponin I3, cardiac type |
Reports Updated as of Feb 01, 2025 |
PubMed |
| Costello syndrome |
•Faciocutaneoskeletal syndrome •Fcs syndrome •congenital myopathy with excess of muscle spindles |
Multisystemic disorders |
HRAS HRas proto-oncogene, GTPase |
Reports Updated as of Feb 01, 2025 |
PubMed |
| Acrokeratosis verruciformis of Hopf |
•Acrokeratosis verruciformis •AKV of Hopf • Hopf disease |
Skin disorders |
ATP2A2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 |
Reports Updated as of Feb 04, 2025 |
PubMed |
| SIN3A-related intellectual disability syndrome due to a point mutation |
•Chromosome 15q24 deletion syndrome •15q24 microdeletion syndrome •Witteveen-kolk syndrome •15q24 recurrent microdeletion syndrome •Del(15)(q24) •monosomy 15q24 |
Neurodevelopmental disorders |
SIN3A SIN3 transcription regulator family member A |
Reports Updated as of Feb 04, 2025 |
PubMed |