Visit Metagene.de!
Summary
LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2 CGL2
BERARDINELLI-SEIP CONGENITAL LIPODYSTROPHY, TYPE 2
269700
OMIM = Online Medalian Inheritance of Men
528
11q12.3
rare
autosomal recessive
mutations in the seipin gene
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 (ID/ IDD)
mental retardation
onset, infancy
onset, neonatal
pancreatitis
polycystic ovaries
splenomegaly (large spleen)
umbilical hernia
urolithiasis, kidney stones
laboratory finding
Leptin decreasedserum
Triglycerides increasedserum
Transaminases increasedserum
Literature
Akiyama T,et al.A Japanese case of +¦-ureidopropionase deficiency with dysmorphic featuresBrain Dev39158-612017
Cobbina E,Akhlaghi FNon-alcoholic fatty liver disease (NAFLD) - pathogenesis, classification, and effect on drug metabolizing enzymes and transportersDrug Metab Rev1701-152017
Shu J,et al.Analysis of UPB1 gene mutation in a family affected with beta-ureidopropinoase deficiencyZhonghua Yi Xue Yi Chuan Xue Za Zhi325647-6502015
Neuschwander-Tetri BANon-alcoholic fatty liver diseaseBMC Med151452017
Miyaaki H,Nakao KSignificance of genetic polymorphisms in patients with nonalcoholic fatty liver diseaseClin J Gastroenterol103201-2072017