Peroxisome biogenesis disorder 2b

Preferred Label : Peroxisome biogenesis disorder 2b;

Symbol : PBD2B;

CISMeF acronym : PBD2B;

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 PEX5 gene have cells of complementation group 2 (CG2). For information on the history of PBD complementation groups, see 214100.;

Inheritance : Autosomal recessive;

Laboratory abnormalities : Elevated long chain fatty acids Caused by mutation in the peroxisome biogenesis factor 5 gene (PEX5, 600414.0001);

Prefixed ID : #202370;

Details

Origin ID

202370;

UMLS CUI

C3550234;

Automatic exact mappings (from CISMeF team)
- Infantile Refsum disease [ORDO Disease]
- Neonatal adrenoleukodystrophy [ORDO Disease]
- peroxisome biogenesis disorder 2B [DO Concept]
CISMeF manual mappings
- Peroxisome Biogenesis Disorder 2B [NCIt concept]
DO Cross reference
- peroxisome biogenesis disorder 2B [DO Concept]
Genes related to phenotype
- Peroxisome biogenesis factor 5 [OMIM gene]
HPO term(s)
- Abnormal facial shape [HPO term]
- Adrenal insufficiency [HPO term]
- Anteverted nares [HPO term]
- Autosomal recessive inheritance [HPO term]
- Dolichocephaly [HPO term]
- Elevated circulating long chain fatty acid concentration [HPO term]
- Epicanthus [HPO term]
- Esotropia [HPO term]
- Frontal bossing [HPO term]
- High forehead [HPO term]
- High palate [HPO term]
- High, narrow palate [HPO term]
- Intellectual disability [HPO term]
- Low-set ears [HPO term]
- Polar cataract [HPO term]
- Prominent forehead [HPO term]
- Seizure [HPO term]
- Wide nasal bridge [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 2B [NCIt concept]

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