Peroxisome biogenesis disorder 3b

Preferred Label : Peroxisome biogenesis disorder 3b;

Symbol : PBD3B;

CISMeF acronym : PBD3B;

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 PEX12 gene have cells of complementation group 3 (CG3). 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 : Hypocholesterolemia; Phytanic acid accumulation; Very long chain fatty acid accumulation; Di- and trihydroxycholestanoic acid accumulation; Pipecolic acid accumulation.; Peroxisome deficiency; Defective bile acid metabolism;

Prefixed ID : #266510;

Details

Origin ID

266510;

UMLS CUI

C3550693;

Automatic exact mappings (from CISMeF team)
- Infantile Refsum disease [ORDO Disease]
- Neonatal adrenoleukodystrophy [ORDO Disease]
CISMeF manual mappings
- Peroxisome Biogenesis Disorder 3B [NCIt concept]
DO Cross reference
- Refsum disease [DO Concept]
- infantile Refsum disease [DO Concept]
Genes related to phenotype
- Peroxisome biogenesis factor 12 [OMIM gene]
HPO term(s)
- Abnormal bleeding [HPO term]
- Abnormal electroretinogram [HPO term]
- Abnormal facial shape [HPO term]
- Autosomal recessive inheritance [HPO term]
- Congenital onset [HPO term]
- Depressed nasal ridge [HPO term]
- Failure to thrive [HPO term]
- Flat face [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hepatomegaly [HPO term]
- Hypocholesterolemia [HPO term]
- Hyporeflexia [HPO term]
- Hypotonia [HPO term]
- Intellectual disability [HPO term]
- Malar flattening [HPO term]
- Minor facial dysmorphism [HPO term]
- Onset in utero [HPO term]
- Osteoporosis [HPO term]
- Polyneuropathy [HPO term]
- Retinal dystrophy [HPO term]
- Rod-cone dystrophy [HPO term]
- Sensorineural hearing impairment [HPO term]
- Single transverse palmar crease [HPO term]
- Steatorrhea [HPO term]
- Very long chain fatty acid accumulation [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 3B [NCIt concept]

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