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
311	Hydatidiform mole, recurrent, 1 Autosomal recessive	Reproductive disorders	NLRP7 NLR family pyrin domain containing 7	Reports Updated as of Mar 30, 2026	PubMed
312	Hyper-IgM syndrome type 1 X-linked recessive	Immune disorders	CD40LG CD40 ligand	Reports Updated as of Feb 01, 2025	PubMed
313	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency Autosomal recessive	Metabolic disorders	CA5A carbonic anhydrase 5A	Reports Updated as of Mar 09, 2023	PubMed
314	Hyperekplexia 1 Autosomal dominant, Autosomal recessive	Neurodevelopmental disorders	GLRA1 glycine receptor alpha 1	Reports Updated as of Mar 09, 2023	PubMed
315	Hyperekplexia 3 Autosomal dominant, Autosomal recessive	Neurodevelopmental disorders	SLC6A5 solute carrier family 6 member 5	Reports Updated as of Feb 10, 2026	PubMed
316	Hypereosinophilic syndrome, idiopathic Somatic mutation	Blood disorders	PDGFRA platelet derived growth factor receptor alpha	Reports Updated as of Feb 20, 2024	PubMed
317	Hyperimmunoglobulin D with periodic fever Autosomal recessive	Immune disorders	MVK mevalonate kinase	Reports Updated as of Jan 05, 2026	PubMed
318	Hyperinsulinemic hypoglycemia, familial, 1 Autosomal dominant, Autosomal recessive	Metabolic disorders	ABCC8 ATP binding cassette subfamily C member 8	Reports Updated as of Sep 08, 2025	PubMed
319	Hyperinsulinemic hypoglycemia, familial, 4 Autosomal recessive	Metabolic disorders	HADH hydroxyacyl-CoA dehydrogenase	Reports Updated as of Sep 08, 2025	PubMed
320	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome Autosomal recessive	Metabolic disorders	SLC25A15 solute carrier family 25 member 15	Reports Updated as of Jul 20, 2024	PubMed

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