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
251	H syndrome Autosomal recessive	Skin disorders	SLC29A3 solute carrier family 29 member 3	Reports Updated as of Dec 07, 2023	PubMed
252	Haim-Munk syndrome Autosomal recessive	Skin disorders	CTSC cathepsin C	Reports Updated as of Dec 07, 2023	PubMed
253	Hajdu-Cheney syndrome Autosomal dominant	Bone disorders	NOTCH2 notch receptor 2	Reports Updated as of May 24, 2023	PubMed
254	Harel-Yoon syndrome Autosomal dominant, Autosomal recessive	Neurodevelopmental disorders	ATAD3A ATPase family AAA domain containing 3A	Reports Updated as of Mar 30, 2026	PubMed
255	Hb SS disease Autosomal recessive	Blood disorders	HBB hemoglobin subunit beta	Reports Updated as of Nov 30, 2023	PubMed
256	Hematuria, benign familial, 1 Autosomal dominant	Nephrological disorders	COL4A4 collagen type IV alpha 4 chain	Reports Updated as of Jan 05, 2026	PubMed
257	Hemochromatosis type 2A Autosomal recessive	Metabolic disorders	HJV hemojuvelin BMP co-receptor	Reports Updated as of Jan 05, 2026	PubMed
258	Hemolytic anemia due to adenylate kinase deficiency Autosomal recessive	Metabolic disorders	AK1 adenylate kinase 1	Reports Updated as of Mar 30, 2026	PubMed
259	Hemophilia B X-linked dominant	Blood disorders	F9 coagulation factor IX	Reports Updated as of Sep 05, 2023	PubMed
260	Hereditary acrodermatitis enteropathica Autosomal recessive	Metabolic disorders	SLC39A4 solute carrier family 39 member 4	Reports Updated as of Feb 01, 2024	PubMed

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