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Summary
LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1 CGL1
BERARDINELLI-SEIP CONGENITAL LIPODYSTROPHY, TYPE 1 BSCL1
608594
OMIM = Online Medalian Inheritance of Men
528
9q34.3
rare
autosomal recessive
symptoms
acanthosis nigrans
cardiomyopathy
cardiomyopathy, hypertrophic
cirrhosis or fibrosis of liver
diabetes mellitus
hepatomegaly (large liver)
hirsutism
hyperinsulinism
increased growth velocity
intellectual disability/intellectual developmental disorder (ID/ IDD)
lipodystrophia
muscle hypertrophy
onset, neonatal
pancreatitis
peripheral neuropathy
psychomotor retardation
umbilical hernia
urolithiasis, kidney stones
laboratory finding
Transaminases increasedserum
Triglycerides increasedserum
Leptin decreasedserum
Literature
Knowles SR,Dewhurst N, Shear NHAnticonvulsant hypersensitivity syndrome: an updateExpert Opin Drug Saf115767-7782012
Lam CW,et al.NMR-based urinalysis for rapid diagnosis of +¦-ureidopropionase deficiency in a patient with Dravet syndromeClin Chim Acta4400201-2042015
Miyaaki H,Nakao KSignificance of genetic polymorphisms in patients with nonalcoholic fatty liver diseaseClin J Gastroenterol103201-2072017