PATENT DUCTUS VENOSUS
General Information (adopted from Orphanet):
Synonyms, Signs: |
PORTOSYSTEMIC VENOUS SHUNT, CONGENITAL PDV PSVS |
Number of Symptoms | 11 |
OrphanetNr: | |
OMIM Id: |
601466
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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:0002480) | Hepatic encephalopathy | 6 / 7739 | ||||
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(HPO:0001410) | Decreased liver function | 59 / 7739 | ||||
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(HPO:0001397) | Hepatic steatosis | 75 / 7739 | ||||
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(HPO:0012022) | Congenital portosystemic venous shunt | 1 / 7739 | ||||
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(HPO:0012021) | Persistent patent ductus venosus | 2 / 7739 | ||||
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(HPO:0001987) | Hyperammonemia | 50 / 7739 | ||||
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(HPO:0012024) | Hypergalactosemia | 6 / 7739 | ||||
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(OMIM) | Fatty degeneration of the liver | 1 / 7739 | ||||
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(OMIM) | Patent ductus venosus | 1 / 7739 | ||||
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(OMIM) | Progressive deterioration of hepatic function | 1 / 7739 | ||||
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(OMIM) | Elevated blood galactose without enzyme deficiency | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
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