Visit Metagene.de!
Summary
PEROXISOME BIOGENESIS DISORDER 1B (PBD1B)
ADRENOLEUKODYSTROPHY/INFANTILE REFSUM DISEASE)
601539
OMIM = Online Medalian Inheritance of Men
44
7q21.2
rare
autosomal recessive
mutation in the PEX1 gene
symptoms
cirrhosis or fibrosis of liver
developmental delay
dysmorphism
hearing defect, deafness
hepatomegaly (large liver)
hypotonia
leukodystrophy
onset, childhood
onset, infancy
onset, neonatal
optic atrophy
psychomotor retardation
retinitis pigmentosa
seizures
small mid-face (malar or maxillary hypoplasia)
laboratory finding
Very-long-chain fatty acids increasedserum
Literature
Nesterova G,Gahl WACystinosis: the evolution of a treatable diseasePediatr Nephrol28151-592013
Waterham HRet al.Mutations in the 3beta-hydroxysterol Delta24-reductase gene cause desmosterolosis, an autosomal recessive disorder of cholesterol biosynthesisAm J Hum Genet694685-6942001