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
51	Aplasia cutis congenita Autosomal dominant	Skin disorders	BMS1 BMS1 ribosome biogenesis factor	Reports Updated as of Feb 01, 2024	PubMed
52	Apparent mineralocorticoid excess Autosomal recessive	Endocrine disorders	HSD11B2 hydroxysteroid 11-beta dehydrogenase 2	Reports Updated as of Feb 01, 2024	PubMed
53	Arginase deficiency Autosomal recessive	Metabolic disorders	ARG1 arginase 1	Reports Updated as of Nov 30, 2023	PubMed
54	Argininosuccinate lyase deficiency Autosomal recessive	Metabolic disorders	ASL argininosuccinate lyase	Reports Updated as of Feb 10, 2026	PubMed
55	Aromatase deficiency Autosomal recessive	Endocrine disorders	CYP19A1 cytochrome P450 family 19 subfamily A member 1	Reports Updated as of Feb 01, 2024	PubMed
56	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Autosomal recessive	Skin disorders	DSP desmoplakin	Reports Updated as of Jun 12, 2025	PubMed
57	Arterial calcification, generalized, of infancy, 1 Autosomal recessive	Cardiovascular disorders	ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1	Reports Updated as of Mar 30, 2026	PubMed
58	Arterial tortuosity syndrome Autosomal recessive	Cardiovascular disorders	SLC2A10 solute carrier family 2 member 10	Reports Updated as of Feb 20, 2024	PubMed
59	Arthrogryposis, renal dysfunction, and cholestasis 2 Autosomal recessive	Multisystemic disorders	VIPAS39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog	Reports Updated as of Feb 10, 2026	PubMed
60	Ataxia-telangiectasia syndrome Autosomal recessive	Neurodegenerative disorders	ATM ATM serine/threonine kinase	Reports Updated as of Sep 15, 2022	PubMed

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