Peroxisome biogenesis disorder 7b

Preferred Label : Peroxisome biogenesis disorder 7b;

Symbol : PBD7B;

CISMeF acronym : PBD7B;

Type : Phenotype, molecular basis known;

Description : The overlapping phenotypes of neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD) represent the milder manifestations of the Zellweger syndrome spectrum (ZSS) of peroxisome biogenesis disorders. The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy, and visual impairment. Children with the NALD presentation may reach their teens, and those with the IRD presentation may reach adulthood (summary by Waterham and Ebberink, 2012). For a complete phenotypic description and a discussion of genetic heterogeneity of PBD(NALD/IRD), see 601539. Individuals with mutations in the PEX26 gene have cells of complementation group 8 (CG8, equivalent to CGA). For information on the history of PBD complementation groups, see 214100.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the peroxisome biogenesis factor 26 gene (PEX26, 608666.0001);

Laboratory abnormalities : Low import of catalase by peroxisomes in patient fibroblasts (import increased or restored by culturing at 30 degrees C); Normal but inefficient import of thiolase by peroxisomes in patient fibroblasts (numbers of thiolase-positive peroxisomes increased by culturing at 30 degrees C);

Prefixed ID : #614873;

Details

Origin ID

614873;

UMLS CUI

C3553951;

Automatic exact mappings (from CISMeF team)
- Infantile Refsum disease [ORDO Disease]
- Neonatal adrenoleukodystrophy [ORDO Disease]
CISMeF manual mappings
- Peroxisome Biogenesis Disorder 7B [NCIt concept]
Genes related to phenotype
- Peroxisome biogenesis factor 26 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Decreased liver function [HPO term]
- Global developmental delay [HPO term]
- Neonatal hypotonia [HPO term]
- Retinal dystrophy [HPO term]
- Sensorineural hearing impairment [HPO term]
- Visual impairment [HPO term]
ORDO concept(s)
- Infantile Refsum disease [ORDO Disease]
- Neonatal adrenoleukodystrophy [ORDO Disease]
- Peroxisome biogenesis disorder [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Peroxisome Biogenesis Disorder 7B [NCIt concept]

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