Peroxisome biogenesis disorder 4a (zellweger)

Preferred Label : Peroxisome biogenesis disorder 4a (zellweger);

Symbol : PBD4A;

CISMeF acronym : CGC; CG4; CG6; PBD4A;

Type : Phenotype, molecular basis known;

Included titles and symbols : Peroxisome biogenesis disorder, complementation group 4; Peroxisome biogenesis disorder, complementation group 6; Peroxisome biogenesis disorder, Complementation group C; CG4; CG6; CGC;

Description : The peroxisomal biogenesis disorder (PBD) Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome. 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 4 (CG4, equivalent to CG6 and CGC) have mutations in the PEX6 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 6 gene (PEX6, 601498.0001);

Laboratory abnormalities : Zellweger complementation group C; Absence of peroxisomes; Zellweger complementation group 4; Elevated serum very long chain fatty acids (VLCFA);

Prefixed ID : #614862;

Details

Origin ID

614862;

UMLS CUI

C3553936;

Automatic exact mappings (from CISMeF team)
- carcinoma, large cell [MeSH Descriptor]
- peroxisome biogenesis disorder, complementation group 4 [MeSH concept]
- peroxisome biogenesis disorder, complementation group 4 [MeSH Supplementary Concept]
- peroxisome biogenesis disorder, complementation group 6 [MeSH concept]
- peroxisome biogenesis disorder, complementation group C [MeSH concept]
CISMeF manual mappings
- Peroxisome Biogenesis Disorder 4A [NCIt concept]
Currated CISMeF NLP mapping
- peroxisome biogenesis disorder 4A [DO Concept]
DO Cross reference
- peroxisome biogenesis disorder 4A [DO Concept]
Genes related to phenotype
- Peroxisome biogenesis factor 6 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Death in infancy [HPO term]
- Depressed nasal bridge [HPO term]
- Epicanthus inversus [HPO term]
- Epiphyseal stippling [HPO term]
- Feeding difficulties in infancy [HPO term]
- Generalized hypotonia [HPO term]
- Generalized neonatal hypotonia [HPO term]
- Hepatomegaly [HPO term]
- Hypertelorism [HPO term]
- Renal cyst [HPO term]
- Respiratory failure [HPO term]
- Seizure [HPO term]
- Upslanted palpebral fissure [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 4A [NCIt concept]
- peroxisome biogenesis disorder 4A [DO Concept]

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