SPLENOPORTAL VASCULAR ANOMALIES
General Information (adopted from Orphanet):
Synonyms, Signs: |
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Number of Symptoms | 10 |
OrphanetNr: | |
OMIM Id: |
271500
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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: |
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Age of onset: |
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Disease classification (adopted from Orphanet):
Parent Diseases: | No data available. |
Symptom Information:
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(HPO:0007111) | Chronic hepatic encephalopathy | 1 / 7739 | ||||
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(HPO:0000819) | Diabetes mellitus | 131 / 7739 | ||||
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(HPO:0001744) | Splenomegaly | 337 / 7739 | ||||
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(HPO:0001394) | Cirrhosis | 102 / 7739 | ||||
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(HPO:0005201) | Anomalous splenoportal venous system | 2 / 7739 | ||||
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(HPO:0001395) | Hepatic fibrosis | 67 / 7739 | ||||
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(HPO:0001541) | Ascites | 94 / 7739 | ||||
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(HPO:0001987) | Hyperammonemia | 50 / 7739 | ||||
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(OMIM) | Mild diabetes mellitus | 1 / 7739 | ||||
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(OMIM) | Splenic venograph shows splenocaval shunt | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
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