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 | Insulin autoimmune syndrome |
Endocrine disorders |
AIRE autoimmune regulator |
Reports Updated as of Feb 20, 2024 |
PubMed |
| 202 | Interstitial cystitis |
Nephrological disorders |
TP53 tumor protein p53 |
Reports Updated as of Sep 15, 2022 |
PubMed |
| 203 | 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 |
| 204 | Juvenile retinoschisis X-linked dominant |
Eye disorders |
RS1 retinoschisin 1 |
Reports Updated as of Feb 20, 2024 |
PubMed |
| 205 | Karyomegalic interstitial nephritis Autosomal recessive |
Nephrological disorders |
FAN1 FANCD2 and FANCI associated nuclease 1 |
Reports Updated as of Feb 01, 2024 |
PubMed |
| 206 | Kearns-Sayre syndrome Autosomal recessive, MT inheritance |
Metabolic disorders |
MT-TY mitochondrially encoded tRNA tyrosine |
Reports Updated as of May 24, 2023 |
PubMed |
| 207 | Kennedy disease X-linked recessive |
Neuromuscular disorders |
AR androgen receptor |
Reports Updated as of Feb 01, 2025 |
PubMed |
| 208 | Klippel-Feil syndrome 2, autosomal recessive Autosomal recessive |
Bone disorders |
MEOX1 mesenchyme homeobox 1 |
Reports Updated as of Feb 01, 2025 |
PubMed |
| 209 | Krabbe disease Autosomal recessive |
Metabolic disorders/Lysosomal storage disorders |
PSAP prosaposin |
Reports Updated as of May 24, 2023 |
PubMed |
| 210 | Lacrimoauriculodentodigital syndrome Autosomal dominant |
Oral disorders |
FGF10 fibroblast growth factor 10 |
Reports Updated as of Feb 01, 2024 |
PubMed |