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
31	Aicardi-Goutieres syndrome 3 Autosomal recessive	Neurodegenerative disorders	RNASEH2C ribonuclease H2 subunit C	Reports Updated as of Jan 05, 2026	PubMed
32	Aicardi-Goutieres syndrome 4 Autosomal recessive	Multisystemic disorders	RNASEH2A ribonuclease H2 subunit A	Reports Updated as of Jul 20, 2024	PubMed
33	Aicardi-Goutieres syndrome 6 Autosomal recessive	Multisystemic disorders	ADAR adenosine deaminase RNA specific	Reports Updated as of Jul 20, 2024	PubMed
34	Alexander disease Autosomal dominant	Neurodegenerative disorders	GFAP glial fibrillary acidic protein	Reports Updated as of Jan 05, 2026	PubMed
35	Alkaptonuria Autosomal recessive	Metabolic disorders	HGD homogentisate 1,2-dioxygenase	Reports Updated as of Sep 15, 2022	PubMed
36	Allan-Herndon-Dudley syndrome X-linked recessive	Neurodevelopmental disorders	SLC16A2 solute carrier family 16 member 2	Reports Updated as of Feb 01, 2025	PubMed
37	Alopecia universalis congenita Autosomal recessive	Skin disorders	HR HR lysine demethylase and nuclear receptor corepressor	Reports Updated as of Nov 30, 2023	PubMed
38	Alpha-1-antitrypsin deficiency Autosomal recessive	Metabolic disorders	SERPINA1 serpin family A member 1	Reports Updated as of Nov 02, 2023	PubMed
39	Alpha-2-plasmin inhibitor deficiency Autosomal recessive	Blood disorders	SERPINF2 serpin family F member 2	Reports Updated as of Nov 30, 2023	PubMed
40	Alstrom syndrome Autosomal recessive	Multisystemic disorders	ALMS1 ALMS1 centrosome and basal body associated protein	Reports Updated as of Nov 30, 2023	PubMed

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