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 |
| 201 | Ichthyosis bullosa of Siemens Autosomal dominant |
Skin disorders |
KRT2 keratin 2 |
Reports Updated as of Dec 29, 2023 |
PubMed |
| 202 | Ichthyosis linearis circumflexa Autosomal recessive |
Skin disorders |
SPINK5 serine peptidase inhibitor Kazal type 5 |
Reports Updated as of Feb 26, 2025 |
PubMed |
| 203 | Idiopathic pulmonary fibrosis |
Respiratory disorders |
TERT telomerase reverse transcriptase |
Reports Updated as of May 24, 2023 |
PubMed |
| 204 | Imerslund-Grasbeck syndrome type 1 Autosomal recessive |
Metabolic disorders |
CUBN cubilin |
Reports Updated as of Feb 04, 2025 |
PubMed |
| 205 | Infantile GM1 gangliosidosis Autosomal recessive |
Metabolic disorders/Lysosomal storage disorders |
GLB1 galactosidase beta 1 |
Reports Updated as of Mar 09, 2023 |
PubMed |
| 206 | Infantile neuroaxonal dystrophy Autosomal recessive |
Neurodegenerative disorders |
PLA2G6 phospholipase A2 group VI |
Reports Updated as of Feb 01, 2025 |
PubMed |
| 207 | Insulin autoimmune syndrome |
Endocrine disorders |
AIRE autoimmune regulator |
Reports Updated as of Feb 20, 2024 |
PubMed |
| 208 | Interstitial cystitis |
Nephrological disorders |
TP53 tumor protein p53 |
Reports Updated as of Sep 15, 2022 |
PubMed |
| 209 | Isolated Pierre-Robin syndrome Autosomal dominant |
Oral disorders |
SNRPB small nuclear ribonucleoprotein polypeptides B and B1 |
Reports Updated as of Sep 05, 2023 |
PubMed |
| 210 | Johanson-Blizzard syndrome Autosomal recessive |
Developmental / Multisystemic disorders |
UBR1 ubiquitin protein ligase E3 component n-recognin 1 |
Reports Updated as of May 24, 2023 |
PubMed |