Autosomal dominant, Autosomal recessive
Monogenic disorders list based on single and multiple genes
| Disorder Name (Total=46) | Aliases | Category | Gene | Indian Reports | Link |
|---|---|---|---|---|---|
| Hutchinson-Gilford syndrome |
• Progeria • Hutchinson Gilford progeria syndrome • Progeria syndrome, childhood-onset • Hutchinson Gilford syndrome • Hutchinson-Gilford disease • Hgps |
Aging disorders |
LMNA lamin A/C |
Reports Updated as of Sep 15, 2022 |
PubMed |
| Common variable immune deficiency | Immune disorders |
CD19 CD19 molecule TNFRSF13B TNF receptor superfamily member 13B TNFRSF13C TNF receptor superfamily member 13C |
Reports Updated as of Sep 15, 2022 |
PubMed | |
| Hereditary hyperekplexia | Neurodevelopmental disorders |
GLRA1 glycine receptor alpha 1 |
Reports Updated as of Mar 09, 2023 |
PubMed | |
| Stickler syndrome | Bone disorders |
COL11A1 collagen type XI alpha 1 chain COL9A1 collagen type IX alpha 1 chain COL2A1 collagen type II alpha 1 chain COL9A2 collagen type IX alpha 2 chain COL9A3 collagen type IX alpha 3 chain COL11A2 collagen type XI alpha 2 chain LOXHD1 lipoxygenase homology PLAT domains 1 |
Reports Updated as of Mar 09, 2023 |
PubMed | |
| Hirschsprung disease |
• Aganglionic megacolon • Colonic aganglionosis • Congenital intestinal aganglionosis • HSCR |
Gastrointestinal disorders |
PHOX2B paired like homeobox 2B ECE1 endothelin converting enzyme 1 RET ret proto-oncogene EDNRB endothelin receptor type B EDN3 endothelin 3 SOX10 SRY-box transcription factor 10 FBN1 fibrillin 1 IHH Indian hedgehog signaling molecule TBATA thymus, brain and testes associated NCLN nicalin NUP98 nucleoporin 98 and 96 precursor DENND3 DENN domain containing 3 GDNF glial cell derived neurotrophic factor |
Reports Updated as of Mar 09, 2023 |
PubMed |
| Spastic ataxia | Neurodegenerative disorders |
MTPAP mitochondrial poly(A) polymerase AFG3L2 AFG3 like matrix AAA peptidase subunit 2 MARS2 methionyl-tRNA synthetase 2, mitochondrial KIF1C kinesin family member 1C VAMP1 vesicle associated membrane protein 1 NKX6-2 NK6 homeobox 2 CHP1 calcineurin like EF-hand protein 1 COQ4 coenzyme Q4 AMPD2 adenosine monophosphate deaminase 2 ATP1A2 ATPase Na+/K+ transporting subunit alpha 2 DARS2 aspartyl-tRNA synthetase 2, mitochondrial GJC2 gap junction protein gamma 2 PEX10 peroxisomal biogenesis factor 10 AHDC1 AT-hook DNA binding motif containing 1 PUM1 pumilio RNA binding family member 1 DAB1 DAB adaptor protein 1 CACNB4 calcium voltage-gated channel auxiliary subunit beta 4 SCN2A sodium voltage-gated channel alpha subunit 2 KIF1A kinesin family member 1A SYNE1 spectrin repeat containing nuclear envelope protein 1 ELOVL4 ELOVL fatty acid elongase 4 CYP7B1 cytochrome P450 family 7 subfamily B member 1 TMEM67 transmembrane protein 67 STXBP1 syntaxin binding protein 1 SPTAN1 spectrin alpha, non-erythrocytic 1 SETX senataxin EXOSC8 exosome component 8 SYNE2 spectrin repeat containing nuclear envelope protein 2 GALC galactosylceramidase CCDC88C coiled-coil domain containing 88C CLN6 CLN6 transmembrane ER protein TUBB3 tubulin beta 3 class III CACNA1G calcium voltage-gated channel subunit alpha1 G MKS1 MKS transition zone complex subunit 1 DNMT1 DNA methyltransferase 1 C19orf12 chromosome 19 open reading frame 12 PNPLA6 patatin like phospholipase domain containing 6 ATP2B3 ATPase plasma membrane Ca2+ transporting 3 FLNC filamin C HPDL 4-hydroxyphenylpyruvate dioxygenase like |
Reports Updated as of Mar 09, 2023 |
PubMed | |
| Pseudohypoaldosteronism type 1 |
• Generalized pseudohypoaldosteronism type 1 |
Nephrological disorders |
SCNN1A sodium channel epithelial 1 subunit alpha SCNN1B sodium channel epithelial 1 subunit beta SCNN1G sodium channel epithelial 1 subunit gamma NR3C2 nuclear receptor subfamily 3 group C member 2 CUL3 cullin 3 KLHL3 kelch like family member 3 |
Reports Updated as of Mar 09, 2023 |
PubMed |
| Congenital glaucoma | Eye disorders |
CYP1B1 cytochrome P450 family 1 subfamily B member 1 |
Reports Updated as of Mar 09, 2023 |
PubMed | |
| Hyperekplexia 1 |
• Stiff-person syndrome, congenital • HKPX1,Stiff man syndrome • Stiff person spectrum disorder |
Neurodevelopmental disorders |
GLRA1 glycine receptor alpha 1 |
Reports Updated as of Mar 09, 2023 |
PubMed |
| Amyotrophic lateral sclerosis | Neuromuscular disorders |
FIG4 FIG4 phosphoinositide 5-phosphatase SETX senataxin ALS2 alsin Rho guanine nucleotide exchange factor ALS2 VAPB VAMP associated protein B and C TRPM7 transient receptor potential cation channel subfamily M member 7 TARDBP TAR DNA binding protein OPTN optineurin DCTN1 dynactin subunit 1 PRPH peripherin MATR3 matrin 3 SOD1 superoxide dismutase 1 FUS FUS RNA binding protein ANG angiogenin UBQLN2 ubiquilin 2 SIGMAR1 sigma non-opioid intracellular receptor 1 PFN1 profilin 1 HNRNPA1 heterogeneous nuclear ribonucleoprotein A1 TUBA4A tubulin alpha 4a NEK1 NIMA related kinase 1 ANXA11 annexin A11 KIF5A kinesin family member 5A SPG11 SPG11 vesicle trafficking associated, spatacsin ERBB4 erb-b2 receptor tyrosine kinase 4 PARK7 Parkinsonism associated deglycase DAO D-amino acid oxidase CHRNA3 cholinergic receptor nicotinic alpha 3 subunit SS18L1 SS18L1 subunit of BAF chromatin remodeling complex EWSR1 EWS RNA binding protein 1 NEFH neurofilament heavy chain VCP valosin containing protein TIA1 TIA1 cytotoxic granule associated RNA binding protein SPTLC1 serine palmitoyltransferase long chain base subunit 1 C9orf72 C9orf72-SMCR8 complex subunit UNC13A unc-13 homolog A |
Reports Updated as of Mar 09, 2023 |
PubMed | |
| Common variable immunodeficiency | Immune disorders |
TTC7A tetratricopeptide repeat domain 7A NFKB1 nuclear factor kappa B subunit 1 RAG2 recombination activating 2 |
Reports Updated as of Mar 09, 2023 |
PubMed | |
| Familial mediterranean fever | Immune disorders |
MEFV MEFV innate immunity regulator, pyrin |
Reports Updated as of Mar 09, 2023 |
PubMed | |
| GNE myopathy | Neuromuscular disorders |
GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase |
Reports Updated as of Mar 09, 2023 |
PubMed | |
| Limb-girdle muscular dystrophy |
• Leyden-Mbius muscular dystrophy • Leyden-Mobius muscular dystrophy • erb's muscular dystrophy • Limb girdle muscular dystrophy • LGMD |
Neuromuscular disorders |
DYSF dysferlin ANO5 anoctamin 5 CAPN3 calpain 3 TTN titin SGCB sarcoglycan beta SGCD sarcoglycan delta MYOT myotilin POMT1 protein O-mannosyltransferase 1 SGCG sarcoglycan gamma POMK protein O-mannose kinase TRAPPC11 trafficking protein particle complex subunit 11 |
Reports Updated as of May 24, 2023 |
PubMed |
| Neuronal ceroid lipofuscinosis |
• Batten disease |
Metabolic disorders/Lysosomal storage disorders |
MFSD8 major facilitator superfamily domain containing 8 CLN5 CLN5 intracellular trafficking protein TPP1 tripeptidyl peptidase 1 CLN8 CLN8 transmembrane ER and ERGIC protein CLN3 CLN3 lysosomal/endosomal transmembrane protein, battenin PPT1 palmitoyl-protein thioesterase 1 CTSD cathepsin D CTSF cathepsin F CLN6 CLN6 transmembrane ER protein GRN granulin precursor DNAJC5 DnaJ heat shock protein family (Hsp40) member C5 KCTD7 potassium channel tetramerization domain containing 7 |
Reports Updated as of Sep 05, 2023 |
PubMed |
| Persistent hyperplastic primary vitreous | Eye disorders |
ATOH7 atonal bHLH transcription factor 7 |
Reports Updated as of Sep 05, 2023 |
PubMed | |
| Hypophosphatasia | Metabolic disorders |
ALPL alkaline phosphatase, biomineralization associated |
Reports Updated as of Sep 05, 2023 |
PubMed | |
| beta Thalassemia |
• Erythroblastic anemia • Beta-thalassemia • Mediterranean anemia |
Blood disorders |
HBB hemoglobin subunit beta |
Reports Updated as of Nov 10, 2023 |
PubMed |
| Hemolytic uremic syndrome, atypical |
• aHUS • Atypical hemolytic uremic syndrome • Atypical hemolytic-uremic syndrome |
Blood disorders |
CFH complement factor H DGKE diacylglycerol kinase epsilon C3AR1 complement C3a receptor 1 |
Reports Updated as of Nov 30, 2023 |
PubMed |
| Cystinuria |
• Cystinuria-lysinuria syndrome |
Metabolic disorders |
SLC7A9 solute carrier family 7 member 9 SLC3A1 solute carrier family 3 member 1 CENPF centromere protein F |
Reports Updated as of Nov 30, 2023 |
PubMed |
| Achondrogenesis |
• Achondrogenesis syndrome |
Bone disorders |
SLC26A2 solute carrier family 26 member 2 TRIP11 thyroid hormone receptor interactor 11 COL2A1 collagen type II alpha 1 chain |
Reports Updated as of Nov 30, 2023 |
PubMed |
| Oculopharyngeal muscular dystrophy |
• OPMD |
Neuromuscular disorders |
PABPN1 poly(A) binding protein nuclear 1 ANXA11 annexin A11 HNRNPA2B1 heterogeneous nuclear ribonucleoprotein A2/B1 |
Reports Updated as of Nov 30, 2023 |
PubMed |
| Factor VII deficiency |
• Hypoproconvertinemia • Congenital proconvertin deficiency • Factor 7 deficiency |
Blood disorders |
F7 coagulation factor VII |
Reports Updated as of Nov 30, 2023 |
PubMed |
| Congenital plasminogen activator inhibitor type 1 deficiency |
• Plasminogen activator inhibitor-1 deficiency • PAI-1 deficiency |
Blood disorders |
SERPINE1 serpin family E member 1 |
Reports Updated as of Nov 30, 2023 |
PubMed |
| von Willebrand disease |
• von Willebrand disease type 1 • Hereditary von Willebrand disease |
Blood disorders |
VWF von Willebrand factor |
Reports Updated as of Nov 30, 2023 |
PubMed |
| Familial adenomatous polyposis |
• MUTYH-related attenuated familial adenomatous polyposis • MUTYH-associated polyposis |
Cancer disorders |
APC APC regulator of WNT signaling pathway MUTYH mutY DNA glycosylase MSH3 mutS homolog 3 NTHL1 nth like DNA glycosylase 1 STK11 serine/threonine kinase 11 |
Reports Updated as of Nov 30, 2023 |
PubMed |
| Bethlem myopathy |
• Bethlem myopathy 1 • Collagen 6-related myopathy • Ullrich congenital muscular dystrophy 1 |
Neuromuscular disorders |
COL6A3 collagen type VI alpha 3 chain COL6A2 collagen type VI alpha 2 chain COL6A1 collagen type VI alpha 1 chain COL12A1 collagen type XII alpha 1 chain |
Reports Updated as of Nov 30, 2023 |
PubMed |
| Duane retraction syndrome |
• Duane syndrome • Duane anomaly • Stilling-Turk-Duane syndrome • DRS • DURS |
Eye disorders |
CHN1 chimerin 1 MAFB MAF bZIP transcription factor B |
Reports Updated as of Dec 29, 2023 |
PubMed |
| Gollop-Wolfgang complex |
• Femur bifid with monodactylous ectrodactyly |
Bone disorders |
BHLHA9 basic helix-loop-helix family member a9 |
Reports Updated as of Dec 29, 2023 |
PubMed |
| Stargardt disease |
• Fundus flavimaculatus • Stargardt 1 |
Eye disorders |
ELOVL4 ELOVL fatty acid elongase 4 PROM1 prominin 1 ABCA4 ATP binding cassette subfamily A member 4 BEST1 bestrophin 1 CRX cone-rod homeobox FLVCR1 FLVCR choline and heme transporter 1 COL2A1 collagen type II alpha 1 chain PRPH2 peripherin 2 RDH12 retinol dehydrogenase 12 LRIT3 leucine rich repeat, Ig-like and transmembrane domains 3 |
Reports Updated as of Dec 29, 2023 |
PubMed |
| Situs inversus totalis |
• Complete situs inversus |
Cardiovascular disorders |
PKD1L1 polycystin 1 like 1, transient receptor potential channel interacting MNS1 meiosis specific nuclear structural 1 CFAP52 cilia and flagella associated protein 52 NODAL nodal growth differentiation factor |
Reports Updated as of Dec 29, 2023 |
PubMed |
| Pituitary stalk interruption syndrome |
• Ectopic neurohypophysis • PSIS |
Endocrine disorders |
ROBO1 roundabout guidance receptor 1 NSMF NMDA receptor synaptonuclear signaling and neuronal migration factor SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 CDON cell adhesion associated, oncogene regulated DNMT1 DNA methyltransferase 1 KISS1R KISS1 receptor |
Reports Updated as of Jan 04, 2024 |
PubMed |
| Irido-corneo-trabecular dysgenesis |
• Peters Anomaly • Peters congenital glaucoma • Anterior segment dysgenesis 5 |
Eye disorders |
CYP1B1 cytochrome P450 family 1 subfamily B member 1 PAX6 paired box 6 PTCH1 patched 1 FAT4 FAT atypical cadherin 4 FAT1 FAT atypical cadherin 1 PITX2 paired like homeodomain 2 BMP4 bone morphogenetic protein 4 ARHGAP35 Rho GTPase activating protein 35 COL4A1 collagen type IV alpha 1 chain |
Reports Updated as of Jan 04, 2024 |
PubMed |
| Hereditary elliptocytosis | Blood disorders |
EPB41 erythrocyte membrane protein band 4.1 |
Reports Updated as of Feb 20, 2024 |
PubMed | |
| Megalencephalic leukoencephalopathy with subcortical cysts |
• Van der Knaap syndrome • MLC • Megalencephalic leukodystrophy • Leukoencephalopathy with swelling and cysts • Megalencephaly-cystic leukodystrophy • Vacuolating megalencephalic leukoencephalopathy with subcortical cysts • Van der Knaap disease |
Neurodegenerative disorders |
MLC1 modulator of VRAC current 1 HEPACAM hepatic and glial cell adhesion molecule AQP4 aquaporin 4 GPRC5B G protein-coupled receptor class C group 5 member B |
Reports Updated as of Feb 20, 2024 |
PubMed |
| Hereditary spherocytosis |
• Minkowski-Chauffard disease |
Blood disorders |
ANK1 ankyrin 1 SPTB spectrin beta, erythrocytic SPTA1 spectrin alpha, erythrocytic 1 EPB42 erythrocyte membrane protein band 4.2 SLC4A1 solute carrier family 4 member 1 (Diego blood group) GPI glucose-6-phosphate isomerase |
Reports Updated as of Feb 20, 2024 |
PubMed |
| Autoimmune lymphoproliferative syndrome |
• ALPS • Canale-Smith syndrome • Autoimmune lymphoproliferative syndrome type 1 |
Immune disorders |
CASP8 caspase 8 FASLG Fas ligand FAS Fas cell surface death receptor PRKCD protein kinase C delta CTLA4 cytotoxic T-lymphocyte associated protein 4 CASP10 caspase 10 |
Reports Updated as of Jul 20, 2024 |
PubMed |
| Hereditary antithrombin deficiency |
• Antithrombin III deficiency • Hereditary thrombophilia due to congenital antithrombin deficiency • Antithrombin deficiency • Antithrombin Iii deficiency • Reduced antithrombin III activity • Thrombophilia due to antithrombin III deficiency • Deficiency of antithrombin III |
Blood disorders |
SERPINC1 serpin family C member 1 |
Reports Updated as of Jul 20, 2024 |
PubMed |
| Hereditary angioedema type 1 |
• Deficiency of C1 esterase inhibitor |
Multisystemic disorders |
SERPING1 serpin family G member 1 |
Reports Updated as of Feb 01, 2025 |
PubMed |
| Catecholaminergic polymorphic ventricular tachycardia 1 |
• Ventricular tachycardia, stress-induced polymorphic 1 • Catecholaminergic polymorphic ventricular tachycardia • bidirectional tachycardia induced by catecholamine • double tachycardia induced by catecholamines • malignant paroxysmal ventricular tachycardia • multifocal ventricular premature beats • ventricular tachycardia, catecholaminergic polymorphic • catecholamine-induced polymorphic ventricular tachycardia • Familial polymorphic ventricular tachycardia • Polymorphic catecholergic ventricular tachycardia • RYR2-related catecholaminergic polymorphic ventricular tachycardia • Stress-induced polymorphic ventricular tachycardia |
Cardiovascular disorders |
RYR2 ryanodine receptor 2 CASQ2 calsequestrin 2 DSP desmoplakin TRDN triadin |
Reports Updated as of Feb 01, 2025 |
PubMed |
| Arrhythmogenic right ventricular dysplasia 2 |
• Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome • ARVC cardiomyopathy • arrhythmogenic right ventricular dysplasia • right ventricular dysplasia |
Cardiovascular disorders |
RYR2 ryanodine receptor 2 TNNI3K TNNI3 interacting kinase |
Reports Updated as of Feb 01, 2025 |
PubMed |
| Desmin-related myofibrillar myopathy |
• Myofibrillar myopathy 1 • autosomal recessive limb-girdle muscular dystrophy caused by mutation in DES • autosomal recessive limb-girdle muscular dystrophy type 2R • desmin-related myofibrillar myopathy • desminopathy • Desmin related myopathyMyofibrillar myopathy 1 • autosomal recessive limb-girdle muscular dystrophy caused by mutation in DES • autosomal recessive limb-girdle muscular dystrophy type 2R • desmin-related myofibrillar myopathy • desminopathy • Desmin related myopathy |
Neuromuscular disorders |
DES desmin TTN titin |
Reports Updated as of Feb 01, 2025 |
PubMed |
| Dejerine-Sottas disease |
• Charcot-Marie-Tooth disease type 3 • Charcot-Marie-Tooth disease, type 3 • CMT3 • Dejerine-Sottas neuropathy • Dejerine-Sottas syndrome • Hereditary motor and sensory neuropathy type 3 • hereditary motor and sensory neuropathy type III • HMSN 3 • HMSN III • HMSN3 • hypertrophic neuropathy of Dejerine-Sottas |
Neuromuscular disorders |
PRX periaxin MPZ myelin protein zero PMP22 peripheral myelin protein 22 EGR2 early growth response 2 |
Reports Updated as of Feb 01, 2025 |
PubMed |
| Neurodegeneration with brain iron accumulation |
• NBIA |
Neurodegenerative disorders |
PLA2G6 phospholipase A2 group VI C19orf12 chromosome 19 open reading frame 12 WDR45 WD repeat domain 45 COASY Coenzyme A synthase FA2H fatty acid 2-hydroxylase CRAT carnitine O-acetyltransferase REPS1 RALBP1 associated Eps domain containing 1 ATP13A2 ATPase cation transporting 13A2 DCAF17 DDB1 and CUL4 associated factor 17 FTH1 ferritin heavy chain 1 |
Reports Updated as of Feb 01, 2025 |
PubMed |
| Multiminicore myopathy |
• Multiminicore disease • MmD • multicore disease • multicore myopathy |
Neuromuscular disorders |
RYR1 ryanodine receptor 1 TTN titin |
Reports Updated as of Feb 01, 2025 |
PubMed |
| Hyper-IgE syndrome |
• Hyperimmunoglobulin E syndrome • Hyper-IgE recurrent infection syndrome • HIES |
Immune disorders |
STAT3 signal transducer and activator of transcription 3 PGM3 phosphoglucomutase 3 DOCK8 dedicator of cytokinesis 8 STAT6 signal transducer and activator of transcription 6 |
Reports Updated as of Feb 26, 2025 |
PubMed |