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
141	Congenital fibrosis of extraocular muscles type 1 Autosomal dominant	Neuromuscular disorders	KIF21A kinesin family member 21A	Reports Updated as of Feb 01, 2025	PubMed
142	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
143	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
144	Congenital glucose-galactose malabsorption Autosomal recessive	Metabolic disorders	SLC5A1 solute carrier family 5 member 1	Reports Updated as of Jul 20, 2024	PubMed
145	Congenital hereditary endothelial dystrophy of cornea Autosomal recessive	Eye disorders	SLC4A11 solute carrier family 4 member 11	Reports Updated as of Mar 30, 2026	PubMed
146	Congenital hypotrichosis with juvenile macular dystrophy Autosomal recessive	Hair disorders	CDH3 cadherin 3	Reports Updated as of Feb 26, 2025	PubMed
147	Congenital insensitivity to pain-hypohidrosis syndrome Autosomal recessive	Neuromuscular disorders	PRDM12 PR/SET domain 12	Reports Updated as of Jun 12, 2025	PubMed
148	Congenital lipoid adrenal hyperplasia due to STAR deficency Autosomal recessive	Metabolic disorders	STAR steroidogenic acute regulatory protein	Reports Updated as of Feb 01, 2025	PubMed
149	Congenital myasthenic syndrome 10 Autosomal recessive	Neuromuscular disorders	DOK7 docking protein 7	Reports Updated as of Feb 10, 2026	PubMed
150	Congenital myotonia, autosomal dominant form Autosomal dominant	Neuromuscular disorders	CLCN1 chloride voltage-gated channel 1	Reports Updated as of Feb 26, 2025	PubMed

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