Peroxisome biogenesis disorder 1b

Preferred Label : Peroxisome biogenesis disorder 1b;

Symbol : PBD1B;

CISMeF acronym : PBD1B;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Infantile phytanic acid storage disease; Peroxisome biogenesis disorder (neonatal adrenoleukodystrophy/infantile refsum disease); Peroxisome biogenesis disorder (nald/ird); Adrenoleukodystrophy, autosomal neonatal; Refsum disease, infantile;

Description : The peroxisome biogenesis disorders (PBDs) neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD) represent the milder manifestations of the Zellweger syndrome spectrum (ZSS). The milder presentations and longer life spans of NALD and IRD result in a more varied initial presentation and natural history. There has been survival of mildly affected patients into adulthood. The phenotypic boundaries between children labeled with NALD or IRD is often blurred and it seems more appropriate to consider these disorders a continuum of PBD. While many children present in the newborn period, others may not come to attention until later. Most children have hypotonia, but unlike Zellweger syndrome there is a degree of psychomotor development - achieving head control, sitting unsupported, and even walking independently. Many communicate and although language is rare, there have been children who have near normal language for age. Craniofacial features are similar to but less pronounced than in Zellweger syndrome. Seizures may be present. Renal cysts and bony stippling are seen routinely. In some individuals a leukodystrophy develops, with degeneration of myelin, loss of previously acquired skills, and development of spasticity. This may stabilize, or progress and be fatal. The most common manifestation in this group of patients that is less apparent in ZS is the development of sensorineural hearing loss and retinitis pigmentosa (summary by Steinberg et al., 2006). While Zellweger syndrome usually results in death in the first year of life, children with the NALD presentation may reach their teens, and those with the IRD presentation may reach adulthood (summary by Waterham and Ebberink, 2012). Individuals with mutations in the PEX1 gene have cells of complementation group 1 (CG1, equivalent to CGE). For information on the history of PBD complementation groups, see 214100. - Genetic Heterogeneity of Peroxisome Biogenesis Disorder;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the peroxisome biogenesis factor 1 gene (PEX1, 602136.0001);

Laboratory abnormalities : Increased very long chain fatty acids (VLCFAs); Varying degrees of catalase import into peroxisomes; Peroxisome biogenesis disorder complementation group E, CGE; Peroxisome biogenesis disorder complementation group 1, CG1;

Prefixed ID : #601539;

Details

Origin ID

601539;

UMLS CUI

C0282527;

Automatic exact mappings (from CISMeF team)
- Neonatal adrenoleukodystrophy [ORDO Disease]
- Refsum's disease [ICD-10 Sub-category]
CISMeF manual mappings
- Peroxisome Biogenesis Disorder 1B [NCIt concept]
Currated CISMeF NLP mapping
- Infantile Refsum disease [ORDO Disease]
- Infantile Refsum's disease (disorder) [SNOMED CT concept]
- infantile Refsum disease [Disease (Nov.)]
- infantile Refsum disease [DO Concept]
- refsum disease, infantile [MeSH Descriptor]
- refsum disease, infantile [MeSH concept]
Genes related to phenotype
- Peroxisome biogenesis factor 1 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Cirrhosis [HPO term]
- Convex nasal ridge [HPO term]
- Delayed speech and language development [HPO term]
- Epicanthus [HPO term]
- Epiphyseal stippling [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hepatic fibrosis [HPO term]
- Hepatomegaly [HPO term]
- Hyperoxaluria [HPO term]
- Leukodystrophy [HPO term]
- Midface retrusion [HPO term]
- Neonatal hypotonia [HPO term]
- Optic atrophy [HPO term]
- Psychomotor retardation [HPO term]
- Renal cyst [HPO term]
- Rod-cone dystrophy [HPO term]
- Seizure [HPO term]
- Sensorineural hearing impairment [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)
- Infantile Refsum Disease [NCIt concept]
- Infantile Refsum disease [ORDO Disease]
- Infantile Refsum disease [ICD-11 More detail]
- Infantile Refsum's disease (disorder) [SNOMED CT concept]
- infantile Refsum disease [DO Concept]
- infantile Refsum disease [Disease (Nov.)]
- refsum disease, infantile [MeSH Descriptor]
- refsum disease, infantile [MeSH concept]

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