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
101	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
102	Cold-induced sweating syndrome 1 Autosomal recessive	Neuromuscular disorders	CRLF1 cytokine receptor like factor 1	Reports Updated as of Jun 12, 2025	PubMed
103	Combined immunodeficiency due to DOCK8 deficiency Autosomal recessive	Immune disorders	DOCK8 dedicator of cytokinesis 8	Reports Updated as of Feb 01, 2025	PubMed
104	Combined oxidative phosphorylation defect type 27 Autosomal recessive	Metabolic disorders	CARS2 cysteinyl-tRNA synthetase 2, mitochondrial	Reports Updated as of Jul 20, 2024	PubMed
105	Combined oxidative phosphorylation deficiency 53 Autosomal recessive	Neurodevelopmental disorders	C2orf69 chromosome 2 open reading frame 69	Reports Updated as of Jul 20, 2024	PubMed
106	Complex regional pain syndrome	Neuronal disorders	TNF tumor necrosis factor	Reports Updated as of Mar 09, 2023	PubMed
107	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
108	Congenital amegakaryocytic thrombocytopenia Autosomal recessive	Blood disorders	MPL MPL proto-oncogene, thrombopoietin receptor	Reports Updated as of Dec 29, 2023	PubMed
109	Congenital defect of folate absorption Autosomal recessive	Metabolic disorders	SLC46A1 solute carrier family 46 member 1	Reports Updated as of Dec 07, 2023	PubMed
110	Congenital fibrosis of extraocular muscles type 1 Autosomal dominant	Neuromuscular disorders	KIF21A kinesin family member 21A	Reports Updated as of Feb 01, 2025	PubMed

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