GenTIGSA Gene Database on Rare Genetic Disorders
  Beta Version

Monogenic disorders list    

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