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 |
| 191 | Hyperprolinemia type 2 Autosomal recessive |
Metabolic disorders |
ALDH4A1 aldehyde dehydrogenase 4 family member A1 |
Reports Updated as of Feb 20, 2024 |
PubMed |
| 192 | Hypoparathyroidism, deafness, renal disease syndrome Autosomal dominant |
Multisystemic disorders |
GATA3 GATA binding protein 3 |
Reports Updated as of Mar 09, 2023 |
PubMed |
| 193 | Hypophosphatasia Autosomal dominant, Autosomal recessive |
Metabolic disorders |
ALPL alkaline phosphatase, biomineralization associated |
Reports Updated as of Sep 05, 2023 |
PubMed |
| 194 | Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 Autosomal recessive |
Neurodevelopmental disorders |
NALCN sodium leak channel, non-selective |
Reports Updated as of Feb 26, 2025 |
PubMed |
| 195 | Ichthyosis bullosa of Siemens Autosomal dominant |
Skin disorders |
KRT2 keratin 2 |
Reports Updated as of Dec 29, 2023 |
PubMed |
| 196 | Ichthyosis linearis circumflexa Autosomal recessive |
Skin disorders |
SPINK5 serine peptidase inhibitor Kazal type 5 |
Reports Updated as of Feb 26, 2025 |
PubMed |
| 197 | Idiopathic pulmonary fibrosis |
Respiratory disorders |
TERT telomerase reverse transcriptase |
Reports Updated as of May 24, 2023 |
PubMed |
| 198 | Imerslund-Grasbeck syndrome type 1 Autosomal recessive |
Metabolic disorders |
CUBN cubilin |
Reports Updated as of Feb 04, 2025 |
PubMed |
| 199 | Infantile GM1 gangliosidosis Autosomal recessive |
Metabolic disorders/Lysosomal storage disorders |
GLB1 galactosidase beta 1 |
Reports Updated as of Mar 09, 2023 |
PubMed |
| 200 | Infantile neuroaxonal dystrophy Autosomal recessive |
Neurodegenerative disorders |
PLA2G6 phospholipase A2 group VI |
Reports Updated as of Feb 01, 2025 |
PubMed |