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=19)	Aliases	Category	Gene	Indian Reports	Link
3-Methylglutaconic aciduria type 2 (XLD)	•Barth syndrome •TAZ-Related Dilated Cardiomyopathy •3-methylglutaconicaciduria type II •Cardioskeletal myopathy with neutropenia and abnormal mitochondria •MGA type II	Metabolic disorders	TAFAZZIN tafazzin, phospholipid-lysophospholipid transacylase	Reports	PubMed
Adrenoleukodystrophy (XLD)	•Adrenomyeloneuropathy •AMN •ALD	Metabolic disorders	ABCD1 ATP binding cassette subfamily D member 1	Reports	PubMed
Atrophia bulborum hereditaria (XLD)	•Norrie disease •Episkopi blindness •Fetal iritis syndrome •Norrie syndrom	Eye disorders / Ear disorders	NDP norrin cystine knot growth factor NDP TSPAN12 tetraspanin 12	Reports	PubMed
Bartter disease type 5 (XLD)	•Bartter syndrome, type 5, antenatal, transient	Nephrological disorders	MAGED2 MAGE family member D2	Reports	PubMed
Cutis laxa, X-linked (XLD)	•Occipital horn syndrome	Skin disorders	ATP7A ATPase copper transporting alpha	Reports	PubMed
Duchenne muscular dystrophy (XLD)	•Severe dystrophinopathy, Duchenne type •DMD •Muscular dystrophy, pseudohypertrophic progressive, Duchenne type	Neuromuscular disorders	DMD dystrophin	Reports	PubMed
Emery-Dreifuss muscular dystrophy (XLD)	•Humeroperoneal neuromuscular disease	Neuromuscular disorders	SYNE1 spectrin repeat containing nuclear envelope protein 1 FHL1 four and a half LIM domains 1 LMNA lamin A/C TMEM43 transmembrane protein 43 SYNE2 spectrin repeat containing nuclear envelope protein 2 SUN1 Sad1 and UNC84 domain containing 1 SUN2 Sad1 and UNC84 domain containing 2 EMD emerin	Reports	PubMed
Hemophilia B (XLD)		Blood disorders	F9 coagulation factor IX	Reports	PubMed
Hereditary factor VIII deficiency disease (XLD)	•Hemophilia A	Blood disorders	F8 coagulation factor VIII F9 coagulation factor IX	Reports	PubMed
Juvenile retinoschisis (XLD)	•X-linked retinoschisis •Retinoschisis juvenile X chromosome-linked •X-linked juvenile retinoschisis •XLRS	Eye disorders	RS1 retinoschisin 1	Reports	PubMed
Lesch-Nyhan syndrome (XLD)	•HPRT complete deficiency •Hypoxanthine guanine phosphoribosyltransferase deficiency	Metabolic disorders	HPRT1 hypoxanthine phosphoribosyltransferase 1	Reports	PubMed
Lowe syndrome (XLD)	•Oculocerebrorenal syndrome of Lowe	Metabolic disorders	OCRL OCRL inositol polyphosphate-5-phosphatase	Reports	PubMed
Menkes disease (XLD)	•Menkes kinky-hair syndrome	Metabolic disorders	ATP7A ATPase copper transporting alpha	Reports	PubMed
Mucopolysaccharidosis type 2 (XLD)	•Hunter syndrome	Metabolic disorders/Lysosomal storage disorders	IDS iduronate 2-sulfatase	Reports	PubMed
Ornithine carbamoyltransferase deficiency (XLD)	•Ornithine transcarbamylase deficiency	Metabolic disorders	OTC ornithine transcarbamylase	Reports	PubMed
Partial Androgen Insensitivity Syndrome (XLD)		Endocrine disorders	AR androgen receptor	Reports	PubMed
Properdin deficiency (XLD)		Immune disorders	CFP complement factor properdin	Reports	PubMed
Wiskott-Aldrich syndrome (XLD)	•Wiskott Aldrich syndrome	Immune disorders	WAS WASP actin nucleation promoting factor WIPF1 WAS/WASL interacting protein family member 1	Reports	PubMed
X-linked agammaglobulinemia (XLD)	•BTK-deficiency •Bruton type agammaglobulinemia •Agammaglobulinemia, X-linked, type 1 •Agammaglobulinemia, BTK •Agammaglobulinemia, Bruton tyrosine kinase •Bruton's agammaglobulinemia •Bruton-type agammaglobulinemia •Immunodeficiency 1	Immune disorders	BTK Bruton tyrosine kinase	Reports	PubMed