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 |