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Сімейна часткова ліподистрофія, повязана з PLIN1

ORPHA:280356· ICD-10 E88.1· PLIN1-related familial partial lipodystrophy

Визначення(English summary)

A rare genetic lipodystrophy characterized by loss of subcutaneous adipose tissue primarily affecting the lower limbs and gluteal region due to a defect in the PLIN1 gene. Associated features of insulin resistance, hepatic steatosis, dyslipidemia, hypertension, axillary acanthosis nigricans and muscular hypertrophy of the lower limbs are typical.

Поширеність
<1 / 1 000 000
Успадкування
Autosomal dominant
Вік початку
Childhood