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
1	3-hydroxy-3-methylglutaryl-CoA synthase deficiency Autosomal recessive	Metabolic disorders	HMGCS2 3-hydroxy-3-methylglutaryl-CoA synthase 2	Reports Updated as of Feb 20, 2024	PubMed
2	3-Methylglutaconic aciduria type 2 X-linked dominant	Metabolic disorders	TAFAZZIN tafazzin, phospholipid-lysophospholipid transacylase	Reports Updated as of Jul 20, 2024	PubMed
3	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Autosomal recessive	Reproductive disorders	SRD5A2 steroid 5 alpha-reductase 2	Reports Updated as of Jul 20, 2024	PubMed
4	Abetalipoproteinaemia Autosomal recessive	Metabolic disorders	MTTP microsomal triglyceride transfer protein	Reports Updated as of Feb 01, 2024	PubMed
5	Acatalasia Autosomal recessive	Metabolic disorders	CAT catalase	Reports Updated as of Feb 01, 2024	PubMed
6	Achondroplasia Autosomal dominant	Bone disorders	FGFR3 fibroblast growth factor receptor 3	Reports Updated as of Nov 30, 2023	PubMed
7	Acrocallosal syndrome Autosomal recessive	Bone disorders	KIF7 kinesin family member 7	Reports Updated as of Nov 10, 2023	PubMed
8	Acrocephalosyndactyly Autosomal dominant	Bone disorders	FGFR2 fibroblast growth factor receptor 2	Reports Updated as of Sep 15, 2022	PubMed
9	Acrodermatitis continua suppurativa of Hallopeau Autosomal recessive	Skin disorders	IL36RN interleukin 36 receptor antagonist	Reports Updated as of Jul 20, 2024	PubMed
10	Acroerythrokeratoderma Autosomal recessive	Skin disorders	SLURP1 secreted LY6/PLAUR domain containing 1	Reports Updated as of Jan 04, 2024	PubMed

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