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
31	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
32	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome Autosomal dominant	Multisystemic disorders	AHDC1 AT-hook DNA binding motif containing 1	Reports Updated as of Jan 05, 2026	PubMed
33	Aicardi-Goutieres syndrome 1 Autosomal dominant, Autosomal recessive	Neurodegenerative disorders	TREX1 three prime repair exonuclease 1	Reports Updated as of Jan 05, 2026	PubMed
34	Aicardi-Goutieres syndrome 3 Autosomal recessive	Neurodegenerative disorders	RNASEH2C ribonuclease H2 subunit C	Reports Updated as of Jan 05, 2026	PubMed
35	Aicardi-Goutieres syndrome 4 Autosomal recessive	Multisystemic disorders	RNASEH2A ribonuclease H2 subunit A	Reports Updated as of Jul 20, 2024	PubMed
36	Aicardi-Goutieres syndrome 6 Autosomal recessive	Multisystemic disorders	ADAR adenosine deaminase RNA specific	Reports Updated as of Jul 20, 2024	PubMed
37	Alexander disease Autosomal dominant	Neurodegenerative disorders	GFAP glial fibrillary acidic protein	Reports Updated as of Jan 05, 2026	PubMed
38	Alkaptonuria Autosomal recessive	Metabolic disorders	HGD homogentisate 1,2-dioxygenase	Reports Updated as of Sep 15, 2022	PubMed
39	Allan-Herndon-Dudley syndrome X-linked recessive	Neurodevelopmental disorders	SLC16A2 solute carrier family 16 member 2	Reports Updated as of Feb 01, 2025	PubMed
40	Alopecia universalis congenita Autosomal recessive	Skin disorders	HR HR lysine demethylase and nuclear receptor corepressor	Reports Updated as of Nov 30, 2023	PubMed

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