Pancreatic beta cell agenesis with neonatal diabetes mellitus
General Information (adopted from Orphanet):
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Synonyms, Signs:
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Number of Symptoms
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3
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OrphanetNr:
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28455
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OMIM Id:
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600089
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ICD-10:
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E10
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UMLs:
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C1838655
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MeSH:
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C538111
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MedDRA:
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Snomed:
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Prevalence, inheritance and age of onset:
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Prevalence:
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No data available.
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Inheritance:
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Age of onset:
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Disease classification (adopted from Orphanet):
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Parent Diseases:
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Rare genetic diabetes mellitus
-Rare genetic disease
Rare insulin-dependent diabetes mellitus
-Rare endocrine disease
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1
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(HPO:0000857)
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Neonatal insulin-dependent diabetes mellitus |
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7 / 7739
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2
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(HPO:0001438)
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Abnormality of the abdomen |
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28 / 7739
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3
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(OMIM)
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Congenital absence of pancreatic islet insulin-producing beta cells |
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1 / 7739
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ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |