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	Cenani-Lenz syndactyly syndrome Autosomal recessive	Bone disorders	LRP4 LDL receptor related protein 4	Reports Updated as of Nov 30, 2023	PubMed
72	Central core myopathy Autosomal dominant	Neuromuscular disorders	RYR1 ryanodine receptor 1	Reports Updated as of Nov 30, 2023	PubMed
73	Cerebellar ataxia-hypogonadism syndrome Autosomal recessive	Multisystemic disorders	RNF216 ring finger protein 216	Reports Updated as of Feb 01, 2025	PubMed
74	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
75	Charlevoix-Saguenay spastic ataxia Autosomal recessive	Neurodegenerative disorders	SACS sacsin molecular chaperone	Reports Updated as of Feb 01, 2025	PubMed
76	Chédiak-Higashi syndrome Autosomal recessive	Immune disorders	LYST lysosomal trafficking regulator	Reports Updated as of Feb 01, 2025	PubMed
77	Cheilitis glandularis Autosomal dominant	Skin disorders	CAST calpastatin	Reports Updated as of Jul 20, 2024	PubMed
78	Child syndrome X-linked recessive	Skin disorders	NSDHL NAD(P) dependent steroid dehydrogenase-like	Reports Updated as of Nov 30, 2023	PubMed
79	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
80	Chondrosarcoma Somatic mutation	Cancer disorders	EXT1 exostosin glycosyltransferase 1	Reports Updated as of Nov 30, 2023	PubMed

First «6 7 8 9 10 »Last 44 pages