Peroxisome biogenesis disorder 8a (zellweger)

Preferred Label : Peroxisome biogenesis disorder 8a (zellweger);

Symbol : PBD8A;

CISMeF acronym : CGD; CG9; PBD8A;

Type : Phenotype, molecular basis known;

Included titles and symbols : Peroxisome biogenesis disorder, complementation group 9; Peroxisome biogenesis Disorder, complementation group D; CG9; CGD;

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 9 (CG9, equivalent to CGD) have mutations in the PEX16 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 16 gene (PEX16, 603360.0001);

Laboratory abnormalities : Elevated serum glutamic pyruvic transaminase (SGPT); Elevated cerebrospinal fluid (CSF) protein; Elevated serum glutamic oxaloacetic transaminase (SGOT);

Prefixed ID : #614876;

Details

Origin ID

614876;

UMLS CUI

C3553959;

Automatic exact mappings (from CISMeF team)
- CYBB wt Allele [NCIt concept]
- Chronic Granulomatous Disease [NCIt concept]
- Chronic granulomatous disease [ORDO Disease]
- Chronic granulomatous disease [ICD-11 More detail]
- chronic granulomatous disease [DO Concept]
- granulomatous disease, chronic [MeSH Descriptor]
- peroxisome biogenesis disorder, complementation group 9 [MeSH concept]
- peroxisome biogenesis disorder, complementation group 9 [MeSH Supplementary Concept]
- peroxisome biogenesis disorder, complementation group D [MeSH Supplementary Concept]
- peroxisome biogenesis disorder, complementation group D [MeSH concept]
CISMeF manual mappings
- Peroxisome Biogenesis Disorder 8A [NCIt concept]
Currated CISMeF NLP mapping
- peroxisome biogenesis disorder 8A [DO Concept]
DO Cross reference
- peroxisome biogenesis disorder 8A [DO Concept]
Genes related to phenotype
- Peroxisome biogenesis factor 16 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Cataract [HPO term]
- Death in infancy [HPO term]
- Elevated circulating aspartate aminotransferase concentration [HPO term]
- Epiphyseal stippling [HPO term]
- Feeding difficulties in infancy [HPO term]
- Generalized hypotonia [HPO term]
- Generalized neonatal hypotonia [HPO term]
- Glossoptosis [HPO term]
- Hepatomegaly [HPO term]
- Jaundice [HPO term]
- Seizure [HPO term]
- Severe global developmental delay [HPO term]
- Ventricular septal defect [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 8A [NCIt concept]
- peroxisome biogenesis disorder 8A [DO Concept]

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