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 |
| Cutis laxa, X-linked |
• Occipital horn syndrome |
Skin disorders |
ATP7A ATPase copper transporting alpha |
Reports Updated as of Sep 05, 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 |
| Properdin deficiency | Immune disorders |
CFP complement factor properdin |
Reports Updated as of Jan 04, 2024 |
PubMed | |
| Atrophia bulborum hereditaria |
• Norrie disease • Episkopi blindness • Fetal iritis syndrome • Norrie syndrom |
Eye disorders / Ear disorders |
NDP norrin cystine knot growth factor NDP TSPAN12 tetraspanin 12 |
Reports Updated as of Jan 04, 2024 |
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 |