LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6
General Information (adopted from Orphanet):
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Synonyms, Signs:
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Number of Symptoms
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6
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OrphanetNr:
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OMIM Id:
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615980
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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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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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No data available.
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1
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(HPO:0001397)
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Hepatic steatosis |
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75 / 7739
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2
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(HPO:0000855)
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Insulin resistance |
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32 / 7739
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3
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(HPO:0003119)
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Abnormality of lipid metabolism |
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60 / 7739
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4
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(HPO:0003236)
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Elevated serum creatine phosphokinase |
rare [HPO:skoehler]
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214 / 7739
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5
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(HPO:0003560)
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Muscular dystrophy |
rare [HPO:skoehler]
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88 / 7739
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6
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(HPO:0012743)
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Abdominal obesity |
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6 / 7739
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ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |