MODY syndrome
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Maturity-onset diabetes of the young |
| Number of Symptoms | 2 |
| OrphanetNr: | 552 |
| OMIM Id: |
125850
125851 600496 606391 606392 606394 609812 610508 612225 613370 613375 |
| ICD-10: |
E11.8 |
| UMLs: |
|
| MeSH: |
|
| MedDRA: |
|
| Snomed: |
|
Prevalence, inheritance and age of onset:
| Prevalence: | <= 200 of 100 000 - PMID: 23869298 [IBIS] |
| Inheritance: |
Autosomal dominant - PMID: 23869298 [IBIS] |
| Age of onset: |
Adolescent Adult - PMID: 23869298 [IBIS] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Rare genetic diabetes mellitus
-Rare genetic disease Rare insulin-independent diabetes mellitus -Rare endocrine disease |
Comment:
| The MODY group of monogenic diabetes results from heterozygous mutations in the genes coding for various transcription factors involved in the foetal development of the pancreas and the β‐cells as well as those regulating the maturation and maintenance of β‐cell function after birth. In addition, mutations in enzymes directly or indirectly involved in glucose sensing of the β‐cell have also been shown to result in early onset diabetes. There is wide clinical as well as genetic heterogeneity within and among the different MODY subtypes (PMID:23869298). This term does not characterize a disease but a group of diseases. Annotations can be found at a more specific level. MODY syndrome comprises the following Phenodis entries: Phenodis:8976 Maturity-onset diabetes of the young, type 1, OMIM:125850; Phenodis:8977 Maturity-onset diabetes of the young, type 2, OMIM:125851; Phenodis:10677 Maturity-onset diabetes of the young, type 3, OMIM:600496; Phenodis:10975 Maturity-onset diabetes of the young, type 4, OMIM:606392; Phenodis:7224 Renal cysts and diabetes syndrome; Orphanet:93111; Phenodis:10976 Maturity-onset diabetes of the young, type 6, OMIM:606394; Phenodis:11275 Maturity-onset diabetes of the young, type 7, OMIM:610508; Phenodis:11198 Maturity-onset diabetes of the young, type 8, with exocrine dysfunction, OMIM:609812; Phenodis:11397 Maturity-onset diabetes of the young, type 9, OMIM:612225; Phenodis:11574 Maturity-onset diabetes of the young, type 10, OMIM:613370; Phenodis:11575 Maturity-onset diabetes of the young, type 11, OMIM:613375; Phenodis:12204 Maturity-onset diabetes of the young, type 13, OMIM:616329; Phenodis:12760 Maturity-onset diabetes of the young, type 14, OMIM:616511; |
Symptom Information:
|
|
(HPO:0005978) | Type II diabetes mellitus | Very frequent [IBIS] | 23869298 | IBIS | 68 / 7739 | |
|
|
(HPO:0004904) | Maturity-onset diabetes of the young | Very frequent [IBIS] | 23869298 | IBIS | 17 / 7739 |
Associated genes:
| HNF4A; GCK; HNF1A; PDX1; HNF1B; NEUROD1; KLF11; CEL; PAX4; INS; BLK; KCNJ11; APPL1; |
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|