Peroxisome biogenesis disorder 7a (zellweger)

Preferred Label : Peroxisome biogenesis disorder 7a (zellweger);

Symbol : PBD7A;

CISMeF acronym : CGA; CG8; PBD7A;

Type : Phenotype, molecular basis known;

Included titles and symbols : Peroxisome biogenesis disorder, complementation group 8; Peroxisome biogenesis disorder, complementation group a; CG8; CGA;

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 8 (CG8, equivalent to CGA) have mutations in the PEX26 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 26 gene (PEX26, 608666.0002);

Laboratory abnormalities : Zellweger complementation group A (CGA); Elevated very long chain fatty acids (VLCFAs); Zellweger complementation group 8 (CG8); No thiolase import by peroxisomes in patient fibroblasts; No catalase import by peroxisomes in patient fibroblasts;

Prefixed ID : #614872;

Details

Origin ID

614872;

UMLS CUI

C3888385;

Automatic exact mappings (from CISMeF team)
- CGA Gene [NCIt concept]
- CHGA wt Allele [NCIt concept]
- Chromogranin A Measurement [NCIt concept]
- Chromogranin-A [NCIt concept]
- anterior cingulate gyrus [UBERON concept]
CISMeF manual mappings
- Peroxisome Biogenesis Disorder 7A [NCIt concept]
Currated CISMeF NLP mapping
- peroxisome biogenesis disorder 7A [DO Concept]
DO Cross reference
- peroxisome biogenesis disorder 7A [DO Concept]
Genes related to phenotype
- Peroxisome biogenesis factor 26 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Cataract [HPO term]
- Death in infancy [HPO term]
- Epiphyseal stippling [HPO term]
- Feeding difficulties [HPO term]
- Flat face [HPO term]
- Flat occiput [HPO term]
- Generalized neonatal hypotonia [HPO term]
- Hepatomegaly [HPO term]
- High forehead [HPO term]
- High palate [HPO term]
- Jaundice [HPO term]
- Long philtrum [HPO term]
- Low-set ears [HPO term]
- Nystagmus [HPO term]
- Posteriorly rotated ears [HPO term]
- Seizure [HPO term]
- Severe muscular hypotonia [HPO term]
- Talipes equinovarus [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 7A [NCIt concept]
- peroxisome biogenesis disorder 7A [DO Concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients