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
11	Acrokeratosis verruciformis of Hopf Autosomal dominant	Skin disorders	ATP2A2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2	Reports Updated as of Feb 04, 2025	PubMed
12	Acute fatty liver of pregnancy Autosomal recessive	Metabolic disorders	HADHA hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha	Reports Updated as of Nov 30, 2023	PubMed
13	Acute febrile neutrophilic dermatosis Autosomal dominant	Skin disorders	MEFV MEFV innate immunity regulator, pyrin	Reports Updated as of Dec 29, 2023	PubMed
14	Adams-Oliver syndrome 1 Autosomal dominant	Bone disorders	ARHGAP31 Rho GTPase activating protein 31	Reports Updated as of Feb 01, 2024	PubMed
15	Adenine phosphoribosyltransferase deficiency Autosomal recessive	Metabolic disorders	APRT adenine phosphoribosyltransferase	Reports Updated as of Feb 01, 2024	PubMed
16	Adenylosuccinate lyase deficiency Autosomal recessive	Metabolic disorders	ADSL adenylosuccinate lyase	Reports Updated as of Feb 01, 2024	PubMed
17	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
18	Adrenocortical carcinoma	Cancer disorders	TP53 tumor protein p53	Reports Updated as of Nov 30, 2023	PubMed
19	Adrenoleukodystrophy X-linked dominant	Metabolic disorders	ABCD1 ATP binding cassette subfamily D member 1	Reports Updated as of Mar 09, 2023	PubMed
20	Adult polyglucosan body disease Autosomal recessive	Metabolic disorders	GBE1 1,4-alpha-glucan branching enzyme 1	Reports Updated as of Feb 01, 2024	PubMed

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