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
71	Cerebrooculofacioskeletal syndrome 2 Autosomal recessive	Multisystemic disorders	ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit	Reports Updated as of Feb 26, 2025	PubMed
72	Charlevoix-Saguenay spastic ataxia Autosomal recessive	Neurodegenerative disorders	SACS sacsin molecular chaperone	Reports Updated as of Feb 01, 2025	PubMed
73	Chédiak-Higashi syndrome Autosomal recessive	Immune disorders	LYST lysosomal trafficking regulator	Reports Updated as of Feb 01, 2025	PubMed
74	Cheilitis glandularis Autosomal dominant	Skin disorders	CAST calpastatin	Reports Updated as of Jul 20, 2024	PubMed
75	Child syndrome X-linked recessive	Skin disorders	NSDHL NAD(P) dependent steroid dehydrogenase-like	Reports Updated as of Nov 30, 2023	PubMed
76	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
77	Chondrosarcoma Somatic mutation	Cancer disorders	EXT1 exostosin glycosyltransferase 1	Reports Updated as of Nov 30, 2023	PubMed
78	Chorea-acanthocytosis Autosomal recessive	Neurodegenerative disorders	VPS13A vacuolar protein sorting 13 homolog A	Reports Updated as of Sep 15, 2022	PubMed
79	Choroid plexus papilloma Autosomal dominant	Cancer disorders	TP53 tumor protein p53	Reports Updated as of Jan 04, 2024	PubMed
80	Chronic inflammatory demyelinating polyneuropathy	Neuromuscular disorders	PMP22 peripheral myelin protein 22	Reports Updated as of Nov 30, 2023	PubMed

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