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
31	Alstrom syndrome Autosomal recessive	Multisystemic disorders	ALMS1 ALMS1 centrosome and basal body associated protein	Reports Updated as of Nov 30, 2023	PubMed
32	Alveolar soft part sarcoma	Cancer disorders	ASPSCR1 ASPSCR1 tether for SLC2A4, UBX domain containing	Reports Updated as of Nov 30, 2023	PubMed
33	Amelocerebrohypohidrotic syndrome Autosomal recessive	Neurodegenerative disorders	ROGDI rogdi atypical leucine zipper	Reports Updated as of Feb 01, 2024	PubMed
34	Amelogenesis imperfecta type 1G Autosomal recessive	Oral disorders	FAM20A FAM20A golgi associated secretory pathway pseudokinase	Reports Updated as of Dec 29, 2023	PubMed
35	Amyotrophic neuralgia Autosomal dominant	Neuromuscular disorders	SEPTIN9 septin 9	Reports Updated as of Feb 01, 2025	PubMed
36	Ankylosing spondylitis	Immune disorders	PTGER4 prostaglandin E receptor 4	Reports Updated as of Sep 15, 2022	PubMed
37	Aplasia cutis congenita Autosomal dominant	Skin disorders	BMS1 BMS1 ribosome biogenesis factor	Reports Updated as of Feb 01, 2024	PubMed
38	Apparent mineralocorticoid excess Autosomal recessive	Endocrine disorders	HSD11B2 hydroxysteroid 11-beta dehydrogenase 2	Reports Updated as of Feb 01, 2024	PubMed
39	Arginase deficiency Autosomal recessive	Metabolic disorders	ARG1 arginase 1	Reports Updated as of Nov 30, 2023	PubMed
40	Aromatase deficiency Autosomal recessive	Endocrine disorders	CYP19A1 cytochrome P450 family 19 subfamily A member 1	Reports Updated as of Feb 01, 2024	PubMed

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