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GENATLAS PHENOTYPE

last update : 27-01-2010

Symbol	LPPA
Location	19p13.3
Name	lipodystrophy, partial, acquired
Other name(s)	Barraquer-Simons syndrome
Corresponding gene	LMNB2
Other symbol(s)	APL
Main clinical features	progressive loss of subcutaneous adipose tissue from face, upper limbs and trunk associated features such as dermatomyositis, renal dysfunction, abnormal glucose metabolism, and neurologic abnormalities onset in first or second decade, more common in females (male:female ratio 4:1) variable phenotype
Genetic determination
Function/system disorder
Type	malformation

Remark(s)