LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2; CGL2

Question 1

What is  LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2; CGL2?

Accepted Answer

rare
autosomal recessive
mutations in the seipin gene (BSCL2)

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Lipodystrophie Typ 2; Lipodystrophie Berardinelli; generalisierte kongenitale Form

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 269700

Question 4

Which enzymes are involved?

Accepted Answer

Seipin

Disease	LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2; CGL2
Synonym	BERARDINELLI-SEIP CONGENITAL LIPODYSTROPHY, TYPE 2
OMIM	269700 OMIM = Online Mendelian Inheritance of Men
Orphanet	528
Protein (UniProt)	Seipin
Gene locus	11q12.3
ICD	E88.1
Summary	rare autosomal recessive mutations in the seipin gene (BSCL2)
Laboratory findings	Leptin dec (serum) Transaminases (ASAT/ALAT) inc (serum) Triglycerides inc (serum)
Symptoms	acanthosis nigrans bone age, advanced cardiomyopathy, hypertrophic cirrhosis or fibrosis of liver diabetes mellitus hepatomegaly (large liver) hirsutism increased growth velocity intellectual disability/intellectual developmental disorder mental retardation onset, infancy onset, neonatal pancreatitis polycystic ovaries splenomegaly (large spleen) umbilical hernia urolithiasis, nephrolithiasis, kidney stones