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 |
| 151 | Hutchinson-Gilford syndrome (Sep 15, 2022) Autosomal dominant, Autosomal recessive |
Aging disorders |
LMNA lamin A/C |
PubMed | Reports |
| 152 | Hyaline fibromatosis syndrome (May 24, 2023) Autosomal recessive |
Bone disorders |
ANTXR2 ANTXR cell adhesion molecule 2 |
PubMed | Reports |
| 153 | Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency (Mar 09, 2023) Autosomal recessive |
Metabolic disorders |
CA5A carbonic anhydrase 5A |
PubMed | Reports |
| 154 | Hyperekplexia 1 (Mar 09, 2023) Autosomal dominant, Autosomal recessive |
Neurodevelopmental disorders |
GLRA1 glycine receptor alpha 1 |
PubMed | Reports |
| 155 | Hypereosinophilic syndrome, idiopathic (Feb 20, 2024) Somatic mutation |
Blood disorders |
PDGFRA platelet derived growth factor receptor alpha |
PubMed | Reports |
| 156 | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (Jul 20, 2024) Autosomal recessive |
Metabolic disorders |
SLC25A15 solute carrier family 25 member 15 |
PubMed | Reports |
| 157 | Hyperphenylalaninemia due to tetrahydrobiopterin deficiency (Nov 02, 2023) Autosomal recessive |
Metabolic disorders |
GCH1 GTP cyclohydrolase 1 |
PubMed | Reports |
| 158 | Hyperprolinemia type 2 (Feb 20, 2024) Autosomal recessive |
Metabolic disorders |
ALDH4A1 aldehyde dehydrogenase 4 family member A1 |
PubMed | Reports |
| 159 | Hypoparathyroidism, deafness, renal disease syndrome (Mar 09, 2023) Autosomal dominant |
Multisystemic disorders |
GATA3 GATA binding protein 3 |
PubMed | Reports |
| 160 | Hypophosphatasia (Sep 05, 2023) Autosomal dominant, Autosomal recessive |
Metabolic disorders |
ALPL alkaline phosphatase, biomineralization associated |
PubMed | Reports |