Disorder of bile acid synthesis
General Information (adopted from Orphanet):
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Synonyms, Signs:
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Number of Symptoms
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8
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OrphanetNr:
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79168
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OMIM Id:
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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:
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Prevalence:
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0.6
of 100 000
[Orphanet]
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Inheritance:
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Age of onset:
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All ages
[Orphanet]
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Disease classification (adopted from Orphanet):
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Parent Diseases:
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Sterol metabolism disorder
-Rare genetic disease
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1
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(HPO:0000504)
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Abnormality of vision |
Occasional [Orphanet]
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22 / 7739
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2
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(HPO:0009830)
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Peripheral neuropathy |
Frequent [Orphanet]
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206 / 7739
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3
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(HPO:0004349)
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Reduced bone mineral density |
Frequent [Orphanet]
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165 / 7739
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4
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(HPO:0002024)
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Malabsorption |
Very frequent [Orphanet]
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142 / 7739
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5
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(HPO:0002910)
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Elevated hepatic transaminases |
Very frequent [Orphanet]
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158 / 7739
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6
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(HPO:0001410)
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Decreased liver function |
Very frequent [Orphanet]
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59 / 7739
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7
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(HPO:0001396)
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Cholestasis |
Very frequent [Orphanet]
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136 / 7739
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8
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(HPO:0003010)
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Prolonged bleeding time |
Frequent [Orphanet]
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88 / 7739
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ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |