Peroxisome biogenesis disorder 13a (zellweger)

Preferred Label : Peroxisome biogenesis disorder 13a (zellweger);

Symbol : PBD13A;

CISMeF acronym : CGK; PBD13A;

Type : Phenotype, molecular basis known;

Included titles and symbols : Peroxisome biogenesis disorder, complementation group k; CGK;

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 K (CGK) have mutations in the PEX14 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 14 gene (PEX14, 601791.0001);

Laboratory abnormalities : Normal phytanic acid level; Elevated di- and trihydroxycholestanoic acid; Elevated very long chain fatty acids (VLCFA);

Prefixed ID : #614887;

Details

Origin ID

614887;

UMLS CUI

C3554004;

Automatic exact mappings (from CISMeF team)
- PRKG1 wt Allele [NCIt concept]
- peroxisome biogenesis disorder 13A [DO Concept]
- peroxisome biogenesis disorder, complementation group K [MeSH Supplementary Concept]
- peroxisome biogenesis disorder, complementation group K [MeSH concept]
DO Cross reference
- peroxisome biogenesis disorder 13A [DO Concept]
Genes related to phenotype
- Peroxisome biogenesis factor 14 [OMIM gene]
HPO term(s)
- Abnormal facial shape [HPO term]
- Abnormal nasal bridge morphology [HPO term]
- Abnormality of neuronal migration [HPO term]
- Abnormality of the eye [HPO term]
- Autosomal recessive inheritance [HPO term]
- Central hypotonia [HPO term]
- Cholestasis [HPO term]
- Delayed closure of the anterior fontanelle [HPO term]
- Dolichocephaly [HPO term]
- Feeding difficulties [HPO term]
- Flat occiput [HPO term]
- Generalized hypotonia [HPO term]
- Hepatomegaly [HPO term]
- High forehead [HPO term]
- Hypotonia [HPO term]
- Jaundice [HPO term]
- Large fontanelles [HPO term]
- Micrognathia [HPO term]
- Seizure [HPO term]
- Triangular face [HPO term]
ORDO concept(s)
- Peroxisome biogenesis disorder [ORDO Disease]
- Zellweger syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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