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	Adenine phosphoribosyltransferase deficiency Autosomal recessive	Metabolic disorders	APRT adenine phosphoribosyltransferase	Reports Updated as of Feb 01, 2024	PubMed
22	Adenylosuccinate lyase deficiency Autosomal recessive	Metabolic disorders	ADSL adenylosuccinate lyase	Reports Updated as of Feb 01, 2024	PubMed
23	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder Autosomal dominant	Neurodevelopmental disorders	ADNP activity dependent neuroprotector homeobox	Reports Updated as of Nov 30, 2023	PubMed
24	Adrenocortical carcinoma	Cancer disorders	TP53 tumor protein p53	Reports Updated as of Nov 30, 2023	PubMed
25	Adrenoleukodystrophy X-linked dominant	Metabolic disorders	ABCD1 ATP binding cassette subfamily D member 1	Reports Updated as of Mar 09, 2023	PubMed
26	Adult polyglucosan body disease Autosomal recessive	Metabolic disorders	GBE1 1,4-alpha-glucan branching enzyme 1	Reports Updated as of Feb 01, 2024	PubMed
27	ADULT syndrome Autosomal dominant	Skin disorders	TP63 tumor protein p63	Reports Updated as of Nov 30, 2023	PubMed
28	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
29	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
30	Aicardi-Goutieres syndrome 1 Autosomal dominant, Autosomal recessive	Neurodegenerative disorders	TREX1 three prime repair exonuclease 1	Reports Updated as of Jan 05, 2026	PubMed

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