Peroxisome biogenesis disorder 6b

Preferred Label : Peroxisome biogenesis disorder 6b;

Symbol : PBD6B;

CISMeF acronym : PBD6B;

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 PEX10 gene have cells of complementation group 7 (CG7, equivalent to CGB). For information on the history of PBD complementation groups, see 214100.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the peroxisome biogenesis factor 10 gene (PEX10, 602859.0002);

Laboratory abnormalities : Increased plasma phytanic acid; Increased plasma pipecolic acid; Increased bile acid intermediates (DHCA and THCA); Increased plasma pristanic acid; Increased plasma branched-chain fatty acids;

Prefixed ID : #614871;

Details

Origin ID

614871;

UMLS CUI

C3553948;

Automatic exact mappings (from CISMeF team)
- Infantile Refsum disease [ORDO Disease]
- Neonatal adrenoleukodystrophy [ORDO Disease]
CISMeF manual mappings
- Peroxisome Biogenesis Disorder 6B [NCIt concept]
Genes related to phenotype
- Peroxisome biogenesis factor 10 [OMIM gene]
HPO term(s)
- Abnormal cerebral white matter morphology [HPO term]
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cerebellar atrophy [HPO term]
- Decreased liver function [HPO term]
- Distal amyotrophy [HPO term]
- Distal sensory impairment [HPO term]
- Dysarthria [HPO term]
- Dysmetric saccades [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hyporeflexia [HPO term]
- Impaired smooth pursuit [HPO term]
- Intention tremor [HPO term]
- Neonatal hypotonia [HPO term]
- Nystagmus [HPO term]
- Pes cavus [HPO term]
- Retinal dystrophy [HPO term]
- Sensorineural hearing impairment [HPO term]
- Slowly progressive [HPO term]
- Variable expressivity [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 6B [NCIt concept]

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