GenTIGS

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.

View information by inheritance mode

S.No.	Genetic Disorders Modes of inheritance	Category	Gene symbol	Indian context	Links
121	Child syndrome X-linked recessive	Skin disorders	NSDHL NAD(P) dependent steroid dehydrogenase-like	Reports Updated as of Nov 30, 2023	PubMed
122	Cholestanol storage disease Autosomal recessive	Metabolic disorders/Lysosomal storage disorders	CYP27A1 cytochrome P450 family 27 subfamily A member 1	Reports Updated as of Mar 09, 2023	PubMed
123	Chondrosarcoma Somatic mutation	Cancer disorders	EXT1 exostosin glycosyltransferase 1	Reports Updated as of Nov 30, 2023	PubMed
124	Chorea-acanthocytosis Autosomal recessive	Neurodegenerative disorders	VPS13A vacuolar protein sorting 13 homolog A	Reports Updated as of Sep 15, 2022	PubMed
125	Choroid plexus papilloma Autosomal dominant	Cancer disorders	TP53 tumor protein p53	Reports Updated as of Jan 04, 2024	PubMed
126	Choroideremia X-linked recessive	Eye disorders	CHM CHM Rab escort protein	Reports Updated as of Jun 12, 2025	PubMed
127	Chronic inflammatory demyelinating polyneuropathy	Neuromuscular disorders	PMP22 peripheral myelin protein 22	Reports Updated as of Nov 30, 2023	PubMed
128	CK syndrome X-linked recessive	Neurodevelopmental disorders	NSDHL NAD(P) dependent steroid dehydrogenase-like	Reports Updated as of Nov 12, 2025	PubMed
129	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency Autosomal recessive	Endocrine disorders	CYP21A2 cytochrome P450 family 21 subfamily A member 2	Reports Updated as of Sep 08, 2025	PubMed
130	Coffin-Lowry syndrome X-linked dominant	Multisystemic disorders	RPS6KA3 ribosomal protein S6 kinase A3	Reports Updated as of Jan 05, 2026	PubMed

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