Maturity-onset diabetes of the young, type 9
General Information (adopted from Orphanet):
| Synonyms, Signs: |
MODY9 |
| Number of Symptoms | 5 |
| OrphanetNr: | |
| OMIM Id: |
612225
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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:
| Caused by a heterozygous mutation in the PAX4 gene (OMIM). |
Symptom Information:
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(HPO:0003074) | Hyperglycemia | 21263211 | IBIS | 37 / 7739 | ||
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(HPO:0001959) | Polydipsia | 21263211; 11723072 | IBIS | 43 / 7739 | ||
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(HPO:0000103) | Polyuria | 21263211; 11723072 | IBIS | 60 / 7739 | ||
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(HPO:0004904) | Maturity-onset diabetes of the young | Very frequent [IBIS] | 23878349; 23869298 | IBIS | 17 / 7739 | |
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(HPO:0005978) | Type II diabetes mellitus | Very frequent [IBIS] | 21263211; 11723072; 23869298 | IBIS | 68 / 7739 |
Associated genes:
| PAX4; |
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Molecular genetics OMIM |
Plengvidhya et al. (2007) screened the PAX4 gene in 46 Thai probands with MODY who did not have mutations in known MODY genes and identified heterozygous mutations in 2 probands (167413.0004 and 167413.0005). Neither mutation was found in ... |