Peroxisome biogenesis disorder 5a (zellweger)

Preferred Label : Peroxisome biogenesis disorder 5a (zellweger);

Symbol : PBD5A;

CISMeF acronym : CGF; CG10; CG5; PBD5A;

Type : Phenotype, molecular basis known;

Included titles and symbols : Peroxisome biogenesis disorder, complementation group 5; Peroxisome biogenesis disorder, complementation group 10; Peroxisome biogenesis disorder, complementation group f; CG5; CG10; CGF;

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 5 (CG5, equivalent to CG10 and CGF) have mutations in the PEX2 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 2 gene (PEX2, 170993.0001);

Laboratory abnormalities : Absent peroxisomes in skin fibroblasts; Accumulation of very-long-chain fatty acids in serum;

Prefixed ID : #614866;

Details

Origin ID

614866;

UMLS CUI

C3553940;

Automatic exact mappings (from CISMeF team)
- CG 10 [MeSH Supplementary Concept]
- Core Genotyping Facility [NCIt concept]
CISMeF manual mappings
- Peroxisome Biogenesis Disorder 5A [NCIt concept]
Currated CISMeF NLP mapping
- peroxisome biogenesis disorder 5A [DO Concept]
DO Cross reference
- peroxisome biogenesis disorder 5A [DO Concept]
Genes related to phenotype
- Peroxisome biogenesis factor 2 [OMIM gene]
HPO term(s)
- Abnormal heart morphology [HPO term]
- Abnormal helix morphology [HPO term]
- Abnormality of cardiovascular system morphology [HPO term]
- Areflexia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Brushfield spots [HPO term]
- Camptodactyly [HPO term]
- Cataract [HPO term]
- Cleft palate [HPO term]
- Clitoral hypertrophy [HPO term]
- Cryptorchidism [HPO term]
- Cubitus valgus [HPO term]
- Epicanthus [HPO term]
- Epiphyseal stippling [HPO term]
- Failure to thrive [HPO term]
- Feeding difficulties in infancy [HPO term]
- Flat face [HPO term]
- Generalized hypotonia [HPO term]
- Generalized neonatal hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hepatomegaly [HPO term]
- Hepatosplenomegaly [HPO term]
- High forehead [HPO term]
- Hypertelorism [HPO term]
- Intellectual disability [HPO term]
- Intrahepatic biliary dysgenesis [HPO term]
- Intrauterine growth retardation [HPO term]
- Jaundice [HPO term]
- Large fontanelles [HPO term]
- Low-set ears [HPO term]
- Macrogyria [HPO term]
- Metatarsus adductus [HPO term]
- Micrognathia [HPO term]
- Opacification of the corneal stroma [HPO term]
- Optic nerve dysplasia [HPO term]
- Palpebral edema [HPO term]
- Pigmentary retinopathy [HPO term]
- Polymicrogyria [HPO term]
- Poor suck [HPO term]
- Renal cortical microcysts [HPO term]
- Renal cyst [HPO term]
- Round face [HPO term]
- Seizure [HPO term]
- Single transverse palmar crease [HPO term]
- Splenomegaly [HPO term]
- Stippled chondral calcification [HPO term]
- Talipes equinovarus [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 5A [NCIt concept]
- peroxisome biogenesis disorder 5A [DO Concept]

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