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
271	Homocystinuria due to methylene tetrahydrofolate reductase deficiency Autosomal recessive	Metabolic disorders/Lysosomal storage disorders	MTHFR methylenetetrahydrofolate reductase	Reports Updated as of Feb 26, 2025	PubMed
272	Hutchinson-Gilford syndrome Autosomal dominant, Autosomal recessive	Aging disorders	LMNA lamin A/C	Reports Updated as of Sep 15, 2022	PubMed
273	Hyaline fibromatosis syndrome Autosomal recessive	Bone disorders	ANTXR2 ANTXR cell adhesion molecule 2	Reports Updated as of May 24, 2023	PubMed
274	Hydatidiform mole, recurrent, 1 Autosomal recessive	Reproductive disorders	NLRP7 NLR family pyrin domain containing 7	Reports Updated as of Mar 30, 2026	PubMed
275	Hyper-IgM syndrome type 1 X-linked recessive	Immune disorders	CD40LG CD40 ligand	Reports Updated as of Feb 01, 2025	PubMed
276	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency Autosomal recessive	Metabolic disorders	CA5A carbonic anhydrase 5A	Reports Updated as of Mar 09, 2023	PubMed
277	Hyperekplexia 1 Autosomal dominant, Autosomal recessive	Neurodevelopmental disorders	GLRA1 glycine receptor alpha 1	Reports Updated as of Mar 09, 2023	PubMed
278	Hyperekplexia 3 Autosomal dominant, Autosomal recessive	Neurodevelopmental disorders	SLC6A5 solute carrier family 6 member 5	Reports Updated as of Feb 10, 2026	PubMed
279	Hypereosinophilic syndrome, idiopathic Somatic mutation	Blood disorders	PDGFRA platelet derived growth factor receptor alpha	Reports Updated as of Feb 20, 2024	PubMed
280	Hyperimmunoglobulin D with periodic fever Autosomal recessive	Immune disorders	MVK mevalonate kinase	Reports Updated as of Jan 05, 2026	PubMed

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