GenTIGS

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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 list based on single and multiple genes

Disorder Name (Total=38)	Aliases	Category	Gene	Indian Reports	Link
Achondrogenesis (AD, AR)	•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	PubMed
Amyotrophic lateral sclerosis (AD, AR)		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	PubMed
Autoimmune lymphoproliferative syndrome (AD, AR)	•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	PubMed
beta Thalassemia (AD, AR)	•Erythroblastic anemia •Beta-thalassemia •Mediterranean anemia	Blood disorders	HBB hemoglobin subunit beta	Reports	PubMed
Bethlem myopathy (AD, AR)	•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	PubMed
Common variable immune deficiency (AD, AR)		Immune disorders	CD19 CD19 molecule TNFRSF13B TNF receptor superfamily member 13B TNFRSF13C TNF receptor superfamily member 13C	Reports	PubMed
Common variable immunodeficiency (AD, AR)		Immune disorders	TTC7A tetratricopeptide repeat domain 7A NFKB1 nuclear factor kappa B subunit 1 RAG2 recombination activating 2	Reports	PubMed
Congenital glaucoma (AD, AR)		Eye disorders	CYP1B1 cytochrome P450 family 1 subfamily B member 1	Reports	PubMed
Congenital plasminogen activator inhibitor type 1 deficiency (AD, AR)	•Plasminogen activator inhibitor-1 deficiency •PAI-1 deficiency	Blood disorders	SERPINE1 serpin family E member 1	Reports	PubMed
Cystinuria (AD, AR)	•Cystinuria-lysinuria syndrome	Metabolic disorders	SLC7A9 solute carrier family 7 member 9 SLC3A1 solute carrier family 3 member 1 CENPF centromere protein F	Reports	PubMed
Duane retraction syndrome (AD, AR)	•Duane syndrome •Duane anomaly •Stilling-Turk-Duane syndrome •DRS •DURS	Eye disorders	CHN1 chimerin 1 MAFB MAF bZIP transcription factor B	Reports	PubMed
Factor VII deficiency (AD, AR)	•Hypoproconvertinemia •Congenital proconvertin deficiency •Factor 7 deficiency	Blood disorders	F7 coagulation factor VII	Reports	PubMed
Familial adenomatous polyposis (AD, AR)	•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	PubMed
Familial mediterranean fever (AD, AR)		Immune disorders	MEFV MEFV innate immunity regulator, pyrin	Reports	PubMed
GNE myopathy (AD, AR)		Neuromuscular disorders	GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase	Reports	PubMed
Gollop-Wolfgang complex (AD, AR)	•Femur bifid with monodactylous ectrodactyly	Bone disorders	BHLHA9 basic helix-loop-helix family member a9	Reports	PubMed
Hemolytic uremic syndrome, atypical (AD, AR)	•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	PubMed
Hereditary antithrombin deficiency (AD, AR)	•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	PubMed
Hereditary elliptocytosis (AD, AR)		Blood disorders	EPB41 erythrocyte membrane protein band 4.1	Reports	PubMed
Hereditary hyperekplexia (AD, AR)		Neurodevelopmental disorders	GLRA1 glycine receptor alpha 1	Reports	PubMed
Hereditary spherocytosis (AD, AR)	•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	PubMed
Hirschsprung disease (AD, AR)	•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	PubMed
Hutchinson-Gilford syndrome (AD, AR)	•Progeria •Hutchinson Gilford progeria syndrome •Progeria syndrome, childhood-onset •Hutchinson Gilford syndrome •Hutchinson-Gilford disease •Hgps	Aging disorders	LMNA lamin A/C	Reports	PubMed
Hyperekplexia 1 (AD, AR)	•Stiff-person syndrome, congenital •HKPX1,Stiff man syndrome •Stiff person spectrum disorder	Neurodevelopmental disorders	GLRA1 glycine receptor alpha 1	Reports	PubMed
Hypophosphatasia (AD, AR)		Metabolic disorders	ALPL alkaline phosphatase, biomineralization associated	Reports	PubMed
Irido-corneo-trabecular dysgenesis (AD, AR)	•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	PubMed
Limb-girdle muscular dystrophy (AD, AR)	•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	Reports	PubMed
Megalencephalic leukoencephalopathy with subcortical cysts (AD, AR)	•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	PubMed
Neuronal ceroid lipofuscinosis (AD, AR)	•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	PubMed
Oculopharyngeal muscular dystrophy (AD, AR)	•OPMD	Neuromuscular disorders	PABPN1 poly(A) binding protein nuclear 1 ANXA11 annexin A11 HNRNPA2B1 heterogeneous nuclear ribonucleoprotein A2/B1	Reports	PubMed
Persistent hyperplastic primary vitreous (AD, AR)		Eye disorders	ATOH7 atonal bHLH transcription factor 7	Reports	PubMed
Pituitary stalk interruption syndrome (AD, AR)	•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	PubMed
Pseudohypoaldosteronism type 1 (AD, AR)	•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	PubMed
Situs inversus totalis (AD, AR)	•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	PubMed
Spastic ataxia (AD, AR)		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	PubMed
Stargardt disease (AD, AR)	•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	PubMed
Stickler syndrome (AD, AR)		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	PubMed
von Willebrand disease (AD, AR)	•von Willebrand disease type 1 •Hereditary von Willebrand disease	Blood disorders	VWF von Willebrand factor	Reports	PubMed