GenTIGS

List of monogenic disorders and their associated genes(Heterogeneity and Homogeneity)
Monogenic disorders arise from mutations in a single gene, but variations within that gene or in any one across of 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	Charcot-Marie-Tooth disease, demyelinating, type 1J Autosomal dominant	Neuromuscular disorders	ITPR3 inositol 1,4,5-trisphosphate receptor type 3	Reports Updated as of Jun 12, 2025	PubMed
122	Charcot-Marie-Tooth disease, type IA Autosomal dominant	Neuromuscular disorders	PMP22 peripheral myelin protein 22	Reports Updated as of Jun 12, 2025	PubMed
123	Charlevoix-Saguenay spastic ataxia Autosomal recessive	Neurodegenerative disorders	SACS sacsin molecular chaperone	Reports Updated as of Feb 01, 2025	PubMed
124	Chédiak-Higashi syndrome Autosomal recessive	Immune disorders	LYST lysosomal trafficking regulator	Reports Updated as of Feb 01, 2025	PubMed
125	Cheilitis glandularis Autosomal dominant	Skin disorders	CAST calpastatin	Reports Updated as of Jul 20, 2024	PubMed
126	Child syndrome X-linked recessive	Skin disorders	NSDHL NAD(P) dependent steroid dehydrogenase-like	Reports Updated as of Nov 30, 2023	PubMed
127	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
128	Chondrodysplasia Blomstrand type Autosomal recessive	Bone disorders	PTH1R parathyroid hormone 1 receptor	Reports Updated as of Aug 17, 2026	PubMed
129	Chondrodysplasia-pseudohermaphroditism syndrome Autosomal recessive	Reproductive disorders	HHAT hedgehog acyltransferase	Reports Updated as of Aug 17, 2026	PubMed
130	Chondrosarcoma Somatic mutation	Cancer disorders	EXT1 exostosin glycosyltransferase 1	Reports Updated as of Nov 30, 2023	PubMed

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