Peroxisome biogenesis disorder 2a (zellweger)

Preferred Label : Peroxisome biogenesis disorder 2a (zellweger);

Symbol : PBD2A;

CISMeF acronym : CG2; PBD2A;

Type : Phenotype, molecular basis known;

Included titles and symbols : Peroxisome biogenesis disorder, complementation group 2; CG2;

Description : The peroxisome 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 2 (CG2) have mutations in the PEX5 gene. For information on the history of PBD complementation groups, see 214100.;

Inheritance : Autosomal recessive, several forms;

Prefixed ID : #214110;

Details

Origin ID

214110;

UMLS CUI

C3550273;

Broader ORDO disease(s)
- Zellweger syndrome [ORDO Disease]
CISMeF manual mappings
- Peroxisome Biogenesis Disorder 2A [NCIt concept]
Currated CISMeF NLP mapping
- peroxisome biogenesis disorder 2A [DO Concept]
DO Cross reference
- peroxisome biogenesis disorder 2A [DO Concept]
Genes related to phenotype
- Peroxisome biogenesis factor 5 [OMIM gene]
HPO term(s)
- Abnormal heart morphology [HPO term]
- Abnormal helix morphology [HPO term]
- Abnormality of cardiovascular system morphology [HPO term]
- Abnormality of the mitochondrion [HPO term]
- Aminoaciduria [HPO term]
- Apnea [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]
- Corneal opacity [HPO term]
- Cryptorchidism [HPO term]
- Cubitus valgus [HPO term]
- Death in childhood [HPO term]
- Dolichocephaly [HPO term]
- Dolichoturricephaly [HPO term]
- Early death [HPO term]
- Elevated circulating long chain fatty acid concentration [HPO term]
- Elevated long chain fatty acids in plasma, fibroblasts and amniocytes [HPO term]
- Epicanthus [HPO term]
- Failure to thrive [HPO term]
- Generalized hypotonia [HPO term]
- Hepatomegaly [HPO term]
- High forehead [HPO term]
- Hypertelorism [HPO term]
- Hypoplasia of the thymus [HPO term]
- Hypotonia [HPO term]
- Intellectual disability [HPO term]
- Intrahepatic biliary dysgenesis [HPO term]
- Intrauterine growth retardation [HPO term]
- Jaundice [HPO term]
- Joint contracture of the hand [HPO term]
- Large fontanelles [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]
- Polycystic kidney dysplasia [HPO term]
- Poor suck [HPO term]
- Prenatal growth deficiency [HPO term]
- Seizure [HPO term]
- Single transverse palmar crease [HPO term]
- Stippled chondral calcification [HPO term]
- Talipes equinovarus [HPO term]
- Turricephaly [HPO term]
- Upslanted palpebral fissure [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 2A [NCIt concept]
- peroxisome biogenesis disorder 2A [DO Concept]

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