INFANTILE LIVER FAILURE SYNDROME 2
General Information (adopted from Orphanet):
Synonyms, Signs: |
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Number of Symptoms | 10 |
OrphanetNr: | |
OMIM Id: |
615486
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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:0001217) | Clubbing | 39 / 7739 | ||||
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(HPO:0002910) | Elevated hepatic transaminases | 158 / 7739 | ||||
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(HPO:0001397) | Hepatic steatosis | 75 / 7739 | ||||
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(HPO:0002240) | Hepatomegaly | 467 / 7739 | ||||
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(HPO:0001410) | Decreased liver function | 59 / 7739 | ||||
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(HPO:0001394) | Cirrhosis | rare [HPO:skoehler] | 102 / 7739 | |||
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(HPO:0001508) | Failure to thrive | 454 / 7739 | ||||
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(HPO:0002094) | Dyspnea | 132 / 7739 | ||||
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(HPO:0006530) | Interstitial pulmonary disease | 26 / 7739 | ||||
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(HPO:0012735) | Cough | 24 / 7739 |
Associated genes:
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
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