Maturity-onset diabetes of the young, type 7
General Information (adopted from Orphanet):
Synonyms, Signs: |
MODY7 |
Number of Symptoms | 5 |
OrphanetNr: | |
OMIM Id: |
610508
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ICD-10: |
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UMLs: |
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MeSH: |
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MedDRA: |
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Snomed: |
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Prevalence, inheritance and age of onset:
Prevalence: | No data available. |
Inheritance: |
Autosomal dominant 23869298 [IBIS] |
Age of onset: |
Adolescent Adult 23869298 [IBIS] |
Disease classification (adopted from Orphanet):
Parent Diseases: |
MODY syndrome
-Rare endocrine disease -Rare genetic disease |
Comment:
Maturity-onset diabetes of the young type 7 (MODY7) is caused by heterozygous mutation in the KLF11 gene (OMIM). |
Symptom Information:
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(HPO:0012094) | Abnormal pancreas size | 23869298 | IBIS | 5 / 7739 | ||
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(HPO:0001738) | Exocrine pancreatic insufficiency | 23869298 | IBIS | 23 / 7739 | ||
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(HPO:0004904) | Maturity-onset diabetes of the young | Very frequent [IBIS] | 23878349; 15774581 | IBIS | 17 / 7739 | |
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(HPO:0005978) | Type II diabetes mellitus | Very frequent [IBIS] | 23878349; 15774581; 23869298 | IBIS | 68 / 7739 | |
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(MedDRA:10033603) | Pancreatic atrophy | 23869298 | IBIS | 3 / 7739 |
Associated genes:
KLF11; |
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
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