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 |
| 161 | Ichthyosis bullosa of Siemens (Dec 29, 2023) Autosomal dominant |
Skin disorders |
KRT2 keratin 2 |
PubMed | Reports |
| 162 | Idiopathic pulmonary fibrosis (May 24, 2023) |
Respiratory disorders |
TERT telomerase reverse transcriptase |
PubMed | Reports |
| 163 | Infantile GM1 gangliosidosis (Mar 09, 2023) Autosomal recessive |
Metabolic disorders/Lysosomal storage disorders |
GLB1 galactosidase beta 1 |
PubMed | Reports |
| 164 | Insulin autoimmune syndrome (Feb 20, 2024) |
Endocrine disorders |
AIRE autoimmune regulator |
PubMed | Reports |
| 165 | Interstitial cystitis (Sep 15, 2022) |
Nephrological disorders |
TP53 tumor protein p53 |
PubMed | Reports |
| 166 | Isolated Pierre-Robin syndrome (Sep 05, 2023) Autosomal dominant |
Oral disorders |
SNRPB small nuclear ribonucleoprotein polypeptides B and B1 |
PubMed | Reports |
| 167 | Johanson-Blizzard syndrome (May 24, 2023) Autosomal recessive |
Developmental / Multisystemic disorders |
UBR1 ubiquitin protein ligase E3 component n-recognin 1 |
PubMed | Reports |
| 168 | Juvenile retinoschisis (Feb 20, 2024) X-linked dominant |
Eye disorders |
RS1 retinoschisin 1 |
PubMed | Reports |
| 169 | Karyomegalic interstitial nephritis (Feb 01, 2024) Autosomal recessive |
Nephrological disorders |
FAN1 FANCD2 and FANCI associated nuclease 1 |
PubMed | Reports |
| 170 | Kearns-Sayre syndrome (May 24, 2023) Autosomal recessive, MT inheritance |
Metabolic disorders |
MT-TY mitochondrially encoded tRNA tyrosine |
PubMed | Reports |