Peroxisome biogenesis disorder 11a (zellweger)

Preferred Label : Peroxisome biogenesis disorder 11a (zellweger);

Symbol : PBD11A;

CISMeF acronym : CGH; CG13; PBD11A;

Type : Phenotype, molecular basis known;

Included titles and symbols : Peroxisome biogenesis disorder, complementation group 13; Peroxisome biogenesis disorder, complementation group h; CG13; CGH;

Description : Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome resulting from disordered peroxisome biogenesis. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by Steinberg et al., 2006). For a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see 214100. Individuals with PBDs of complementation group 13 (CG13, equivalent to CGH) have mutations in the PEX13 gene. 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, 601789.0001);

Laboratory abnormalities : Elevated hexacosanoic acid; Elevated ratios of tetracosanoic and hexacosanoic acid to docosanoic acid in plasma; Elevated liver enzymes; 'Ghost' peroxisomes in fibroblasts seen on immunofluorescence microscopy;

Prefixed ID : #614883;

Details

Origin ID

614883;

UMLS CUI

C3554000;

Automatic exact mappings (from CISMeF team)
- Comparative Genomic Hybridization [NCIt concept]
- HTC2 Gene [NCIt concept]
- comparative genomic hybridization [MeSH Descriptor]
- comparative genomic hybridization [MeSH concept]
- peroxisome biogenesis disorder, complementation group 13 [MeSH concept]
- peroxisome biogenesis disorder, complementation group 13 [MeSH Supplementary Concept]
- peroxisome biogenesis disorder, complementation group H [MeSH concept]
- peroxisome biogenesis disorder, complementation group H [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- peroxisome biogenesis disorder 11A [DO Concept]
DO Cross reference
- peroxisome biogenesis disorder 11A [DO Concept]
Genes related to phenotype
- Peroxisome biogenesis factor 13 [OMIM gene]
HPO term(s)
- Anteverted nares [HPO term]
- Apnea [HPO term]
- Autosomal recessive inheritance [HPO term]
- CNS hypomyelination [HPO term]
- Decreased liver function [HPO term]
- Depressed nasal bridge [HPO term]
- Elevated hepatic transaminase [HPO term]
- Failure to thrive [HPO term]
- Global developmental delay [HPO term]
- High forehead [HPO term]
- Infantile muscular hypotonia [HPO term]
- Large face [HPO term]
- Large fontanelles [HPO term]
- Lissencephaly [HPO term]
- Multiple renal cysts [HPO term]
- Polymicrogyria [HPO term]
- Renal cyst [HPO term]
- Seizure [HPO term]
- Severe muscular hypotonia [HPO term]
- Triangular face [HPO term]
- Wide anterior fontanel [HPO term]
ORDO concept(s)
- Peroxisome biogenesis disorder [ORDO Disease]
- Zellweger syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- peroxisome biogenesis disorder 11A [DO Concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients