Peroxisome biogenesis disorder 5b

Preferred Label : Peroxisome biogenesis disorder 5b;

Symbol : PBD5B;

CISMeF acronym : PBD5B;

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 PEX2 gene have cells of complementation group 5 (CG5, equivalent to CG10 and CGF). For information on the history of PBD complementation groups, see 214100.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the peroxisome biogenesis factor 2 gene (PEX2, 170993.0002);

Laboratory abnormalities : Increased phytanic acid; Very long-chain fatty acids may be normal or increased; Increased bile acid intermediates (DHCA and THCA); Increased pristanic acid;

Prefixed ID : #614867;

Details

Origin ID

614867;

UMLS CUI

C3542026;

Automatic exact mappings (from CISMeF team)
- Infantile Refsum disease [ORDO Disease]
- Neonatal adrenoleukodystrophy [ORDO Disease]
CISMeF manual mappings
- Peroxisome Biogenesis Disorder 5B [NCIt concept]
Genes related to phenotype
- Peroxisome biogenesis factor 2 [OMIM gene]
HPO term(s)
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cerebellar atrophy [HPO term]
- Decreased liver function [HPO term]
- Difficulty running [HPO term]
- Dysarthria [HPO term]
- Dysmetria [HPO term]
- Elevated levels of phytanic acid [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hyporeflexia [HPO term]
- Neonatal hypotonia [HPO term]
- Nystagmus [HPO term]
- Oculomotor apraxia [HPO term]
- Pes cavus [HPO term]
- Retinal dystrophy [HPO term]
- Rod-cone dystrophy [HPO term]
- Sensorineural hearing impairment [HPO term]
- Slow saccadic eye movements [HPO term]
- Slowly progressive [HPO term]
- Tremor [HPO term]
- Unsteady gait [HPO term]
- Variable expressivity [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 5B [NCIt concept]

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