Renal-hepatic-pancreatic dysplasia
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Renohepaticopancreatic dysplasia Ivemark II syndrome |
| Number of Symptoms | 25 |
| OrphanetNr: | 294415 |
| OMIM Id: |
208540
615415 |
| 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 recessive [Orphanet] |
| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: |
Syndromic renal or urinary tract malformation
-Rare developmental defect during embryogenesis -Rare genetic disease -Rare renal disease Syndromic visceral malformation -Rare abdominal surgical disease -Rare developmental defect during embryogenesis -Rare genetic disease |
Symptom Information:
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(HPO:0000110) | Renal dysplasia | 44 / 7739 | ||||
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(HPO:0000105) | Enlarged kidneys | 30 / 7739 | ||||
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(HPO:0000113) | Polycystic kidney dysplasia | 75 / 7739 | ||||
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(HPO:0000083) | Renal insufficiency | 232 / 7739 | ||||
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(HPO:0005999) | Ureteral atresia | rare [HPO:skoehler] | 5 / 7739 | |||
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(HPO:0002009) | Potter facies | 8 / 7739 | ||||
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(HPO:0001305) | Dandy-Walker malformation | Occasional [HPO:probinson] | 79 / 7739 | |||
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(HPO:0001562) | Oligohydramnios | 75 / 7739 | ||||
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(HPO:0001395) | Hepatic fibrosis | 67 / 7739 | ||||
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(HPO:0001737) | Pancreatic cysts | 15 / 7739 | ||||
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(HPO:0002613) | Biliary cirrhosis | 11 / 7739 | ||||
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(HPO:0001396) | Cholestasis | 136 / 7739 | ||||
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(HPO:0001748) | Polysplenia | 14 / 7739 | ||||
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(HPO:0001394) | Cirrhosis | 102 / 7739 | ||||
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(HPO:0002566) | Intestinal malrotation | 89 / 7739 | ||||
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(HPO:0002240) | Hepatomegaly | 467 / 7739 | ||||
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(HPO:0001746) | Asplenia | 19 / 7739 | ||||
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(HPO:0100732) | Pancreatic fibrosis | 12 / 7739 | ||||
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(HPO:0001407) | Hepatic cysts | 9 / 7739 | ||||
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(HPO:0001408) | Bile duct proliferation | 22 / 7739 | ||||
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(HPO:0001631) | Atria septal defect | 274 / 7739 | ||||
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(HPO:0001650) | Aortic valve stenosis | 49 / 7739 | ||||
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(HPO:0001643) | Patent ductus arteriosus | 228 / 7739 | ||||
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(HPO:0002089) | Pulmonary hypoplasia | 80 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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