Peroxisome biogenesis disorder 4b

Preferred Label : Peroxisome biogenesis disorder 4b;

Symbol : PBD4B;

CISMeF acronym : PBD4B;

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 (PBDs). 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 PEX6 gene have cells of complementation group 4 (CG4, equivalent to CG6 and CGC). For information on the history of PBD complementation groups, see 214100.;

Inheritance : Autosomal recessive; Autosomal dominant;

Molecular basis : Caused by mutation in the peroxisome biogenesis factor 6 gene (PEX6, 601498.0007);

Laboratory abnormalities : Elevated spinal fluid protein; Elevated very long chain fatty acids (VLCFAs) in serum and fibroblasts; Catalase import deficiency; Random serum ACTH of 100 units; Low serum albumin;

Prefixed ID : #614863;

Details

Origin ID

614863;

UMLS CUI

C3553937;

Automatic exact mappings (from CISMeF team)
- Infantile Refsum disease [ORDO Disease]
- Neonatal adrenoleukodystrophy [ORDO Disease]
CISMeF manual mappings
- Peroxisome Biogenesis Disorder 4B [NCIt concept]
Genes related to phenotype
- Peroxisome biogenesis factor 6 [OMIM gene]
HPO term(s)
- Adrenal insufficiency [HPO term]
- Ataxia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Autosomal recessive inheritance [HPO term]
- Decreased liver function [HPO term]
- Decreased nerve conduction velocity [HPO term]
- Gait disturbance [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hepatomegaly [HPO term]
- Hypertelorism [HPO term]
- Intellectual disability [HPO term]
- Macrocephaly [HPO term]
- Neonatal hypotonia [HPO term]
- Nystagmus [HPO term]
- Optic atrophy [HPO term]
- Recurrent fever [HPO term]
- Retinal dystrophy [HPO term]
- Rod-cone dystrophy [HPO term]
- Seizure [HPO term]
- Sensorineural hearing impairment [HPO term]
- Short nose [HPO term]
- Single transverse palmar crease [HPO term]
- Ureterocele [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 4B [NCIt concept]

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