LIPE-related familial partial lipodystrophy

Orpha code: 435660OMIM code: 615980

Definicja

A rare, genetic lipodystrophy characterized by abnormal subcutaneous fat distribution, resulting in excess accumulation of fat in the face, neck, shoulders, axillae, trunk and pubic region, and loss of subcutaneous fat from the lower extremities. Variable common additional features are progressive adult onset myopathy, insulin resistance, diabetes, hypertriglyceridemia, hepatic steatosis, and vitiligo.

Disease data
Klasyfikacja

Disease

Synonimy
FPLD6
FplD związana z LIPE
FplD6
LIPE-related FPLD
Kod ORPHA
435660
Kod OMIM
615980
Kod ICD10
E88.1
Kod ICD11
-

No additional description.

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