GenTIGS

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X-linked dominant

Monogenic disorders list based on single and multiple genes

Disorder Name (Total=20)	Aliases	Category	Gene	Indian Reports	Link
Menkes disease	• Menkes kinky-hair syndrome	Metabolic disorders	ATP7A ATPase copper transporting alpha	Reports Updated as of Sep 15, 2022	PubMed
Duchenne muscular dystrophy	• Severe dystrophinopathy, Duchenne type • DMD • Muscular dystrophy, pseudohypertrophic progressive, Duchenne type	Neuromuscular disorders	DMD dystrophin	Reports Updated as of Sep 15, 2022	PubMed
Adrenoleukodystrophy	• Adrenomyeloneuropathy • AMN • ALD	Metabolic disorders	ABCD1 ATP binding cassette subfamily D member 1	Reports Updated as of Mar 09, 2023	PubMed
Mucopolysaccharidosis type 2	• Hunter syndrome	Metabolic disorders/Lysosomal storage disorders	IDS iduronate 2-sulfatase	Reports Updated as of May 24, 2023	PubMed
Partial Androgen Insensitivity Syndrome		Endocrine disorders	AR androgen receptor	Reports Updated as of Sep 05, 2023	PubMed
Wiskott-Aldrich syndrome	• Wiskott Aldrich syndrome	Immune disorders	WAS WASP actin nucleation promoting factor WIPF1 WAS/WASL interacting protein family member 1	Reports Updated as of Sep 05, 2023	PubMed
Hereditary factor VIII deficiency disease	• Hemophilia A	Blood disorders	F8 coagulation factor VIII F9 coagulation factor IX	Reports Updated as of Sep 05, 2023	PubMed
Hemophilia B		Blood disorders	F9 coagulation factor IX	Reports Updated as of Sep 05, 2023	PubMed
Lowe syndrome	• Oculocerebrorenal syndrome of Lowe	Metabolic disorders	OCRL OCRL inositol polyphosphate-5-phosphatase	Reports Updated as of Sep 05, 2023	PubMed
Emery-Dreifuss muscular dystrophy	• 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 Updated as of Nov 30, 2023	PubMed
Ornithine carbamoyltransferase deficiency	• Ornithine transcarbamylase deficiency	Metabolic disorders	OTC ornithine transcarbamylase	Reports Updated as of Dec 29, 2023	PubMed
Lesch-Nyhan syndrome	• HPRT complete deficiency • Hypoxanthine guanine phosphoribosyltransferase deficiency	Metabolic disorders	HPRT1 hypoxanthine phosphoribosyltransferase 1	Reports Updated as of Feb 20, 2024	PubMed
Juvenile retinoschisis	• X-linked retinoschisis • Retinoschisis juvenile X chromosome-linked • X-linked juvenile retinoschisis • XLRS	Eye disorders	RS1 retinoschisin 1	Reports Updated as of Feb 20, 2024	PubMed
X-linked agammaglobulinemia	• 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 Updated as of Jul 20, 2024	PubMed
3-Methylglutaconic aciduria type 2	• 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 Updated as of Jul 20, 2024	PubMed
Bartter disease type 5	• Bartter syndrome, type 5, antenatal, transient	Nephrological disorders	MAGED2 MAGE family member D2	Reports Updated as of Jul 20, 2024	PubMed
Osteopathia striata with cranial sclerosis	• Hyperostosis generalisata with striations • Osteopathia striata with cranial sclerosis, X-linked dominant • Robinow-Unger syndrome • Osteopathia striata cranial sclerosis	Bone disorders	AMER1 APC membrane recruitment protein 1	Reports Updated as of Feb 04, 2025	PubMed
Familial X-linked hypophosphatemic vitamin D refractory rickets	• X-linked dominant hypophosphatemic rickets • hereditary hypophosphatemic rickets, X-linked • hypophosphatemic rickets X-linked dominant • hypophosphatemic rickets, X-linked • hypophosphatemic rickets, X-linked dominant, X-linked dominant • rickets, vitamin D-resistant • X-linked hereditary hypophosphatemic rickets • Hypophosphatemic vitamin D-resistant Rickets • Hypophosphatemia, vitamin D-resistant rickets • Hypophosphatemic Rickets, X-Linked Dominant • Vitamin D-resistant rickets, X-linked • X-Linked Hypophosphatemia • XLH	Bone disorders	PHEX phosphate regulating endopeptidase X-linked	Reports Updated as of Sep 08, 2025	PubMed
Incontinentia pigmenti syndrome	• Bloch-Sulzberger syndrome • Bloch-Siemens syndrome • Incontinentia Pigmenti • Incontinentia pigmenti of Bloch-Sulzberger • Incontinentia pigmenti syndrome • Incontinentia pigmenti, x-linked dominant • Incontinentia pigmenti, familial male-lethal type • Incontinentia pigmenti, type ii • IP - Incontinentia Pigmenti	Multisystemic disorders	IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma	Reports Updated as of Nov 12, 2025	PubMed
Alpha thalassemia-X-linked intellectual disability syndrome	• XLMR hypotonic face syndrome • ATR-X syndrome • Alpha thalassemia x-linked intellectual deficit • Alpha thalassemia x-linked intellectual disability syndrome • Alpha thalassemia/intellectual disability syndrome x-linked • Alpha-thalassemia x-linked intellectual disability syndrome • Alpha-thalassemia/impaired intellectual development syndrome, x-linked • Alpha-thalassemia/intellectual disability syndrome nondeletion type • Alpha-thalassemia/mental retardation syndrome, x-linked dominant • x-linked alpha-thalassemia-mental retardation syndrome • ATR, nondeletion type • Alpha thalassemia mental retardation syndrome, nondeletion type, X-linked • Alpha-Thalassemia X-Linked Intellectual Disability Syndrome • X-linked alpha-thalassemia-mental retardation syndrome	Multisystemic disorders	ATRX ATRX chromatin remodeler GBA1 glucosylceramidase beta 1	Reports Updated as of Nov 12, 2025	PubMed