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
41	Aromatase deficiency Autosomal recessive	Endocrine disorders	CYP19A1 cytochrome P450 family 19 subfamily A member 1	Reports Updated as of Feb 01, 2024	PubMed
42	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Autosomal recessive	Skin disorders	DSP desmoplakin	Reports Updated as of Jun 12, 2025	PubMed
43	Arterial tortuosity syndrome Autosomal recessive	Cardiovascular disorders	SLC2A10 solute carrier family 2 member 10	Reports Updated as of Feb 20, 2024	PubMed
44	Ataxia-telangiectasia syndrome Autosomal recessive	Neurodegenerative disorders	ATM ATM serine/threonine kinase	Reports Updated as of Sep 15, 2022	PubMed
45	Autoerythrocyte sensitization syndrome	Immune disorders	CRP C-reactive protein	Reports Updated as of Feb 20, 2024	PubMed
46	Autosomal dominant hypophosphatemic rickets Autosomal dominant	Bone disorders	FGF23 fibroblast growth factor 23	Reports Updated as of Sep 08, 2025	PubMed
47	Autosomal dominant osteopetrosis 2 Autosomal dominant	Bone disorders	CLCN7 chloride voltage-gated channel 7	Reports Updated as of Jul 20, 2024	PubMed
48	Autosomal recessive congenital ichthyosis 4B Autosomal recessive	Skin disorders	ABCA12 ATP binding cassette subfamily A member 12	Reports Updated as of Dec 07, 2023	PubMed
49	Autosomal recessive hyper-IgE syndrome Autosomal recessive	Immune disorders	DOCK8 dedicator of cytokinesis 8	Reports Updated as of Feb 26, 2025	PubMed
50	Autosomal recessive limb-girdle muscular dystrophy type 2A Autosomal recessive	Neuromuscular disorders	CAPN3 calpain 3	Reports Updated as of Feb 26, 2025	PubMed

First «3 4 5 6 7 »Last 48 pages