Peroxisome biogenesis disorder 8b

Preferred Label : Peroxisome biogenesis disorder 8b;

Symbol : PBD8B;

CISMeF acronym : PBD8B;

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 PEX16 gene have cells of complementation group 9 (CG9, equivalent to CGD). For information on the history of PBD complementation groups, see 214100.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the peroxisome biogenesis factor 16 gene (PEX16, 603360.0003);

Laboratory abnormalities : Elevated C27 bile acid intermediates; Elevated pristanic acid; Normal plasmalogen levels in erythrocytes; Elevated phytanic acid; Markedly enlarged, incompetent peroxisomes in fibroblasts; Normal immunoblot profile; Docosahexaenoic acid (DHA) deficiency; Reduced numbers of peroxisomes in fibroblasts; Elevated very long chain fatty acids (VLCFA);

Prefixed ID : #614877;

Details

Origin ID

614877;

UMLS CUI

C3553960;

Automatic exact mappings (from CISMeF team)
- Infantile Refsum disease [ORDO Disease]
- Neonatal adrenoleukodystrophy [ORDO Disease]
- Peroxisome Biogenesis Disorder 8B [NCIt concept]
Genes related to phenotype
- Peroxisome biogenesis factor 16 [OMIM gene]
HPO term(s)
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cataract [HPO term]
- Cerebellar vermis atrophy [HPO term]
- Cognitive impairment [HPO term]
- Constipation [HPO term]
- Corpus callosum atrophy [HPO term]
- Decreased liver function [HPO term]
- Dysarthria [HPO term]
- Dysmetria [HPO term]
- Dysphagia [HPO term]
- Failure to thrive [HPO term]
- Global developmental delay [HPO term]
- Leukodystrophy [HPO term]
- Neonatal hypotonia [HPO term]
- Nystagmus [HPO term]
- Optic atrophy [HPO term]
- Progressive [HPO term]
- Retinal dystrophy [HPO term]
- Sensorineural hearing impairment [HPO term]
- Spastic paraparesis [HPO term]
- Spasticity [HPO term]
- Very long chain fatty acid accumulation [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 8B [NCIt concept]

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