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 (Gentigs update) Modes of inheritance	Category	Gene symbol	Links	Indian context
31	Ankylosing spondylitis (Sep 15, 2022)	Immune disorders	PTGER4 prostaglandin E receptor 4	PubMed	Reports
32	Aplasia cutis congenita (Feb 01, 2024) Autosomal dominant	Skin disorders	BMS1 BMS1 ribosome biogenesis factor	PubMed	Reports
33	Apparent mineralocorticoid excess (Feb 01, 2024) Autosomal recessive	Endocrine disorders	HSD11B2 hydroxysteroid 11-beta dehydrogenase 2	PubMed	Reports
34	Arginase deficiency (Nov 30, 2023) Autosomal recessive	Metabolic disorders	ARG1 arginase 1	PubMed	Reports
35	Aromatase deficiency (Feb 01, 2024) Autosomal recessive	Endocrine disorders	CYP19A1 cytochrome P450 family 19 subfamily A member 1	PubMed	Reports
36	Aromatic L-amino acid decarboxylase deficiency (Sep 05, 2023) Autosomal recessive	Metabolic disorders	DDC dopa decarboxylase	PubMed	Reports
37	Arterial tortuosity syndrome (Feb 20, 2024) Autosomal recessive	Cardiovascular disorders	SLC2A10 solute carrier family 2 member 10	PubMed	Reports
38	Ataxia-telangiectasia syndrome (Sep 15, 2022) Autosomal recessive	Neurodegenerative disorders	ATM ATM serine/threonine kinase	PubMed	Reports
39	Autoerythrocyte sensitization syndrome (Feb 20, 2024)	Immune disorders	CRP C-reactive protein	PubMed	Reports
40	Autosomal dominant osteopetrosis 2 (Jul 20, 2024) Autosomal dominant	Bone disorders	CLCN7 chloride voltage-gated channel 7	PubMed	Reports

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