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
21	Agenesis of the corpus callosum with peripheral neuropathy Autosomal recessive	Neurodegenerative disorders	SLC12A6 solute carrier family 12 member 6	Reports Updated as of Feb 01, 2025	PubMed
22	Aicardi-Goutieres syndrome 4 Autosomal recessive	Multisystemic disorders	RNASEH2A ribonuclease H2 subunit A	Reports Updated as of Jul 20, 2024	PubMed
23	Aicardi-Goutieres syndrome 6 Autosomal recessive	Multisystemic disorders	ADAR adenosine deaminase RNA specific	Reports Updated as of Jul 20, 2024	PubMed
24	Alkaptonuria Autosomal recessive	Metabolic disorders	HGD homogentisate 1,2-dioxygenase	Reports Updated as of Sep 15, 2022	PubMed
25	Allan-Herndon-Dudley syndrome X-linked recessive	Neurodevelopmental disorders	SLC16A2 solute carrier family 16 member 2	Reports Updated as of Feb 01, 2025	PubMed
26	Alopecia universalis congenita Autosomal recessive	Skin disorders	HR HR lysine demethylase and nuclear receptor corepressor	Reports Updated as of Nov 30, 2023	PubMed
27	Alpha-1-antitrypsin deficiency Autosomal recessive	Metabolic disorders	SERPINA1 serpin family A member 1	Reports Updated as of Nov 02, 2023	PubMed
28	Alpha-2-plasmin inhibitor deficiency Autosomal recessive	Blood disorders	SERPINF2 serpin family F member 2	Reports Updated as of Nov 30, 2023	PubMed
29	Alstrom syndrome Autosomal recessive	Multisystemic disorders	ALMS1 ALMS1 centrosome and basal body associated protein	Reports Updated as of Nov 30, 2023	PubMed
30	Alveolar soft part sarcoma	Cancer disorders	ASPSCR1 ASPSCR1 tether for SLC2A4, UBX domain containing	Reports Updated as of Nov 30, 2023	PubMed

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