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
131	Combined oxidative phosphorylation deficiency 53 Autosomal recessive	Neurodevelopmental disorders	C2orf69 chromosome 2 open reading frame 69	Reports Updated as of Jul 20, 2024	PubMed
132	Complex regional pain syndrome	Neuronal disorders	TNF tumor necrosis factor	Reports Updated as of Mar 09, 2023	PubMed
133	Congenital adrenal hypoplasia, X-linked X-linked recessive	Endocrine disorders	NR0B1 nuclear receptor subfamily 0 group B member 1	Reports Updated as of Sep 08, 2025	PubMed
134	Congenital amegakaryocytic thrombocytopenia Autosomal recessive	Blood disorders	MPL MPL proto-oncogene, thrombopoietin receptor	Reports Updated as of Dec 29, 2023	PubMed
135	Congenital defect of folate absorption Autosomal recessive	Metabolic disorders	SLC46A1 solute carrier family 46 member 1	Reports Updated as of Dec 07, 2023	PubMed
136	Congenital diarrhea 5 with tufting enteropathy Autosomal recessive	Gastrointestinal disorders	EPCAM epithelial cell adhesion molecule	Reports Updated as of Feb 10, 2026	PubMed
137	Congenital factor V deficiency Autosomal recessive	Blood disorders	F5 coagulation factor V	Reports Updated as of Jan 05, 2026	PubMed
138	Congenital fibrosis of extraocular muscles type 1 Autosomal dominant	Neuromuscular disorders	KIF21A kinesin family member 21A	Reports Updated as of Feb 01, 2025	PubMed
139	Congenital generalized lipodystrophy type 1 Autosomal recessive	Metabolic disorders	AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2	Reports Updated as of Feb 01, 2025	PubMed
140	Congenital glaucoma Autosomal dominant, Autosomal recessive	Eye disorders	CYP1B1 cytochrome P450 family 1 subfamily B member 1	Reports Updated as of Mar 09, 2023	PubMed

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