Peroxisome biogenesis disorder 12a (zellweger)

Preferred Label : Peroxisome biogenesis disorder 12a (zellweger);

Symbol : PBD12A;

CISMeF acronym : CGJ; PBD12A;

Type : Phenotype, molecular basis known;

Included titles and symbols : Peroxisome biogenesis disorder, complementation group 14; Cg14; Peroxisome biogenesis disorder, complementation group j; Cgj;

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 14 (CG14, equivalent to CGJ) have mutations in the PEX19 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 19 gene (PEX19, 600279.0001);

Laboratory abnormalities : Elevated plasma very long chain fatty acids (VLCFA); Decreased phytanic acid alpha-oxidation; Complete absence of peroxisomes in fibroblasts; Decreased pristanic acid beta-oxidation; Deficiency of dihydroxyacetonephosphate acyltransferase (DHAPAT);

Prefixed ID : #614886;

Details

Origin ID

614886;

UMLS CUI

C3554002;

Automatic exact mappings (from CISMeF team)
- peroxisome biogenesis disorder 12A [DO Concept]
- peroxisome biogenesis disorder, complementation group 14 [MeSH Supplementary Concept]
- peroxisome biogenesis disorder, complementation group 14 [MeSH concept]
- peroxisome biogenesis disorder, complementation group J [MeSH concept]
- peroxisome biogenesis disorder, complementation group J [MeSH Supplementary Concept]
DO Cross reference
- peroxisome biogenesis disorder 12A [DO Concept]
Genes related to phenotype
- Peroxisome biogenesis factor 19 [OMIM gene]
HPO term(s)
- Abnormal cortical bone morphology [HPO term]
- Abnormality of the hairline [HPO term]
- Abnormality of the male genitalia [HPO term]
- Atrial septal defect [HPO term]
- Autosomal recessive inheritance [HPO term]
- CNS demyelination [HPO term]
- Central hypotonia [HPO term]
- Cerebral atrophy [HPO term]
- Cholelithiasis [HPO term]
- Cranial asymmetry [HPO term]
- Decreased body weight [HPO term]
- Decreased fetal movement [HPO term]
- Delayed closure of the anterior fontanelle [HPO term]
- Double outlet right ventricle [HPO term]
- Elevated circulating long chain fatty acid concentration [HPO term]
- Elevated hepatic transaminase [HPO term]
- Epicanthus [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Growth delay [HPO term]
- Hepatic failure [HPO term]
- Hydrocephalus [HPO term]
- Hyperbilirubinemia [HPO term]
- Hypotonia [HPO term]
- Microcephaly [HPO term]
- Patent ductus arteriosus [HPO term]
- Periorbital fullness [HPO term]
- Prominent nose [HPO term]
- Renal tubular dysfunction [HPO term]
- Scaphocephaly [HPO term]
- Seizure [HPO term]
- Short stature [HPO term]
- Triangular face [HPO term]
- Wide anterior fontanel [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]

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