Preferred Label : Peroxisome biogenesis disorder 10a (zellweger);
Symbol : PBD10A;
CISMeF acronym : CGG; CG12; PBD10A;
Type : Phenotype, molecular basis known;
Included titles and symbols : Peroxisome biogenesis disorder, complementation group 12; Peroxisome biogenesis disorder, complementation group g; CG12; CGG;
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 12 (CG12, equivalent to CGG) have mutations in the PEX3 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 3 gene (PEX3, 603164.0001);
Laboratory abnormalities : No peroxisomes; Elevated very long chain fatty acids; Decreased pristanic acid beta-oxidation; Decreased DHAP-AT; Decreased alkyl DHAP synthase;
Prefixed ID : #614882;
Origin ID : 614882;
UMLS CUI : C3553999;
Automatic exact mappings (from CISMeF team)
- DO Cross reference
- Genes related to phenotype
- HPO term(s)
- ORDO concept(s)
- Semantic type(s)
