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
21	Acute febrile neutrophilic dermatosis Autosomal dominant	Skin disorders	MEFV MEFV innate immunity regulator, pyrin	Reports Updated as of Dec 29, 2023	PubMed
22	Acyl-CoA oxidase deficiency Autosomal recessive	Metabolic disorders	ACOX1 acyl-CoA oxidase 1	Reports Updated as of Feb 10, 2026	PubMed
23	Adams-Oliver syndrome 1 Autosomal dominant	Bone disorders	ARHGAP31 Rho GTPase activating protein 31	Reports Updated as of Feb 01, 2024	PubMed
24	Adenine phosphoribosyltransferase deficiency Autosomal recessive	Metabolic disorders	APRT adenine phosphoribosyltransferase	Reports Updated as of Feb 01, 2024	PubMed
25	Adenylosuccinate lyase deficiency Autosomal recessive	Metabolic disorders	ADSL adenylosuccinate lyase	Reports Updated as of Feb 01, 2024	PubMed
26	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
27	Adrenocortical carcinoma	Cancer disorders	TP53 tumor protein p53	Reports Updated as of Nov 30, 2023	PubMed
28	Adrenoleukodystrophy X-linked dominant	Metabolic disorders	ABCD1 ATP binding cassette subfamily D member 1	Reports Updated as of Mar 09, 2023	PubMed
29	Adult polyglucosan body disease Autosomal recessive	Metabolic disorders	GBE1 1,4-alpha-glucan branching enzyme 1	Reports Updated as of Feb 01, 2024	PubMed
30	ADULT syndrome Autosomal dominant	Skin disorders	TP63 tumor protein p63	Reports Updated as of Nov 30, 2023	PubMed

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