Peroxisome biogenesis disorder 3a (zellweger)

Preferred Label : Peroxisome biogenesis disorder 3a (zellweger);

Symbol : PBD3A;

CISMeF acronym : CG3; PBD3A;

Type : Phenotype, molecular basis known;

Included titles and symbols : Peroxisome biogenesis disorder, complementation group 3; CG3;

Description : The peroxisomal biogenesis disorder (PBD) 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 3 (CG3) have mutations in the PEX12 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 12 gene (PEX12, 601758.0001);

Laboratory abnormalities : Pipecolic acid elevated in urine and serum; Increased very long chain fatty acids (VLCFAs); Zellweger complementation group 3; Reduced plasmalogens; Normal serum phytanic acid; No peroxisomal matrix protein import in fibroblasts; Normal serum pristanic acid;

Prefixed ID : #614859;

Details

Origin ID

614859;

UMLS CUI

C3553929;

Automatic exact mappings (from CISMeF team)
- peroxisome biogenesis disorder, complementation group 3 [MeSH Supplementary Concept]
- peroxisome biogenesis disorder, complementation group 3 [MeSH concept]
CISMeF manual mappings
- Peroxisome Biogenesis Disorder 3A [NCIt concept]
Currated CISMeF NLP mapping
- peroxisome biogenesis disorder 3A [DO Concept]
DO Cross reference
- peroxisome biogenesis disorder 3A [DO Concept]
Genes related to phenotype
- Peroxisome biogenesis factor 12 [OMIM gene]
HPO term(s)
- Areflexia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Epiphyseal stippling [HPO term]
- Feeding difficulties in infancy [HPO term]
- Flat face [HPO term]
- Generalized hypotonia [HPO term]
- Generalized neonatal hypotonia [HPO term]
- Hepatomegaly [HPO term]
- High forehead [HPO term]
- Low-set ears [HPO term]
- Polycystic kidney dysplasia [HPO term]
- Seizure [HPO term]
- Vascular dilatation [HPO term]
- Wide nasal bridge [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 3A [NCIt concept]
- peroxisome biogenesis disorder 3A [DO Concept]

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