Partial pancreatic agenesis
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Partial agenesis of the pancreas Congenital pancreatic agenesis |
| Number of Symptoms | 8 |
| OrphanetNr: | 2805 |
| OMIM Id: |
167755
260370 |
| ICD-10: |
Q45.0 |
| 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: | 50 cases [Orphanet] |
| Inheritance: |
Autosomal recessive [Orphanet] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Nonsyndromic visceral malformation
-Rare abdominal surgical disease -Rare developmental defect during embryogenesis -Rare genetic disease |
Symptom Information:
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(HPO:0000819) | Diabetes mellitus | 131 / 7739 | ||||
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(HPO:0009800) | Maternal diabetes | Very frequent [Orphanet] | 14 / 7739 | |||
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(HPO:0100651) | Type I diabetes mellitus | Very frequent [Orphanet] | 44 / 7739 | |||
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(HPO:0001732) | Abnormality of the pancreas | 5 / 7739 | ||||
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(HPO:0012090) | Abnormality of pancreas morphology | Very frequent [Orphanet] | 31 / 7739 | |||
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(HPO:0004325) | Decreased body weight | Very frequent [Orphanet] | 492 / 7739 | |||
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(HPO:0001511) | Intrauterine growth retardation | Very frequent [Orphanet] | 358 / 7739 | |||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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