Cholesterol-ester transfer protein deficiency
General Information (adopted from Orphanet):
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Synonyms, Signs:
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Familial hyperalphalipoproteinemia
CEPT deficiency
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Number of Symptoms
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2
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OrphanetNr:
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79506
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OMIM Id:
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143470
614028
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ICD-10:
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E78.4
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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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No data available.
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Inheritance:
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Age of onset:
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Disease classification (adopted from Orphanet):
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Parent Diseases:
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Hyperalphalipoproteinemia
-Rare endocrine disease
-Rare genetic disease
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1
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(HPO:0012184)
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Hyperalphalipoproteinemia |
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3 / 7739
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2
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(HPO:0000006)
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Autosomal dominant inheritance |
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2518 / 7739
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ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |