Peroxisome biogenesis disorder 11b

Preferred Label : Peroxisome biogenesis disorder 11b;

Symbol : PBD11B;

CISMeF acronym : PBD11B;

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 PEX13 gene have cells of complementation group 13 (CG13, equivalent to CGH). For information on the history of PBD complementation groups, see 214100.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the peroxisome biogenesis factor 13 gene (PEX13, 601789.0002);

Laboratory abnormalities : Normal dihydroxyacetonephosphate acyltransferase (DHAPAT) activity in fibroblasts; Residual beta-oxidation activity in fibroblasts; Scarce peroxisomes in fibroblasts;

Prefixed ID : #614885;

Details

Origin ID

614885;

UMLS CUI

C3554001;

Automatic exact mappings (from CISMeF team)
- Infantile Refsum disease [ORDO Disease]
- Neonatal adrenoleukodystrophy [ORDO Disease]
Genes related to phenotype
- Peroxisome biogenesis factor 13 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Cataract [HPO term]
- Central hypotonia [HPO term]
- Feeding difficulties [HPO term]
- Generalized hypotonia [HPO term]
- Hearing abnormality [HPO term]
- Hearing impairment [HPO term]
- Hypotonia [HPO term]
- Muscle weakness [HPO term]
- Progressive muscle weakness [HPO term]
- Respiratory tract infection [HPO term]
- Visual loss [HPO term]
Not associated HPO term(s)
- Hepatosplenomegaly [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]

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