Peroxisome biogenesis disorder 1a (zellweger)

Preferred Label : Peroxisome biogenesis disorder 1a (zellweger);

Symbol : PBD1A;

CISMeF acronym : CGE; CG1; CHR; ZWS; PBD1A;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Zs; Cerebrohepatorenal syndrome; ZWS; CHR;

Included titles and symbols : Peroxisome biogenesis disorder, complementation group 1; Peroxisome biogenesis disorder, complementation group e; CG1; CGE;

Description : Zellweger syndrome is an autosomal recessive systemic disorder characterized clinically by severe neurologic dysfunction, craniofacial abnormalities, and liver dysfunction, and biochemically by the absence of peroxisomes. Most severely affected individuals with classic Zellweger syndrome phenotype die within the first year of life (summary by Wanders, 2004). 'Zellweger syndrome' is the prototype of a large group of peroxisomal disorders, which can be classified into 2 main groups: (1) disorders of peroxisome biogenesis and (2) single peroxisomal enzyme deficiencies (see 264470). The peroxisome biogenesis disorders (PBDs) fall into 4 main phenotypic classes. Three of them, Zellweger syndrome, neonatal adrenoleukodystrophy (NALD), and infantile Refsum disease (IRD), have multiple complementation groups and form a spectrum of overlapping features, with the most severe being the Zellweger syndrome and the least severe infantile Refsum disease. The fourth group, rhizomelic chondrodysplasia punctata (RCDP1; 215100), is a distinct PBD phenotype (summary by Moser et al., 1995, Wanders, 2004). - Genetic Heterogeneity of Zellweger Syndrome Zellweger syndrome (denoted by the suffix 'A' in the symbol) is a genetically heterogeneous disorder and can be caused by mutation in any one of several genes, known as pexins, involved in peroxisome biogenesis. The pexin (PEX) genes encode proteins essential for the assembly of functional peroxisomes (summary by Distel et al., 1996). Forms of Zellweger syndrome include PBD1A, caused by mutation in the PEX1 gene on chromosome 7q21; PBD2A (214110), caused by mutation in the PEX5 (600414) gene on chromosome 12p13; PBD3A (614859), caused by mutation in the PEX12 (601758) gene on chromosome 17; PBD4A (614862), caused by mutation in the PEX6 (601498) gene on chromosome 6p21; PBD5A (614866), caused by mutation in the PEX2 (170993) gene on chromosome 8q21; PBD6A (614870), caused by mutation in the PEX10 (602859) gene on chromosome 1p36; PBD7A (614872), caused by mutation in the PEX26 (608666) gene on chromosome 22q11; PBD8A (614876), caused by mutation in the PEX16 (603360) gene on chromosome 11p12; PBD10A (614882), caused by mutation in the PEX3 (603164) gene on chromosome 6q23-q24; PBD11A (614883), caused by mutation in the PEX13 (601789) gene on chromosome 2p15; PBD12A (614886), caused by mutation in the PEX19 (600279) gene on chromosome 1q22; and PBD13A (614887), caused by mutation in the PEX14 gene (601791) on chromosome 1p36.2. Mutation in the pexin genes also causes the less severe phenotypes of neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD); see PBD1B (601539) for a phenotypic description and discussion of genetic heterogeneity of these PBDs. The rhizomelic chondrodysplasia subtype of PBD (RCDP1, PBD9; 215100), and a PBD without rhizomelia (PBD9B; 614879), are caused by mutation in the PEX7 gene (601757) on chromosome 6q22-q24. In addition to the defects in peroxisome assembly, Distel et al. (1996) noted that peroxisomal disorders include a number of single peroxisomal enzyme deficiencies: X-linked adrenoleukodystrophy (ALD; 300100), acyl-coenzyme A oxidase deficiency (264470), DHAPAT deficiency (222765), alkyl-DHAP synthase deficiency (600121), glutaric aciduria type III (231690), classic Refsum disease (266500), hyperoxaluria type I (259900), and acatalasia (115500). A peroxisomal and mitochondrial fission defect results in a lethal encephalopathy (EMPF; 614388).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the peroxisome biogenesis factor-1 gene (PEX1, 602136.0001);

Laboratory abnormalities : Decreased dihydroxyacetone phosphate acyltransferase (DHAP-AT) activity; Elevated long chain fatty acids; Elevated serum iron and iron binding capacity; Decreased plasmalogen; Increased phytanic acid; Pipecolic acidemia; Aminoaciduria; Albuminuria;

Prefixed ID : #214100;

Details

Origin ID

214100;

UMLS CUI

C4721541;

Automatic exact mappings (from CISMeF team)
- Cherokee Language [NCIt concept]
- Cobalt Gray Equivalent [NCIt concept]
- Complete Hematologic Response [NCIt concept]
- KTN1 wt Allele [NCIt concept]
- MAMLD1 wt Allele [NCIt concept]
- Reticulocyte Corpuscular Hemoglobin Content [NCIt concept]
- hospitals, district [MeSH Descriptor]
- mastermind like domain containing 1 [ORDO Gene]
- peroxisome biogenesis disorder, complementation group 1 [MeSH Supplementary Concept]
- peroxisome biogenesis disorder, complementation group 1 [MeSH concept]
- peroxisome biogenesis disorder, complementation group E [MeSH Supplementary Concept]
- peroxisome biogenesis disorder, complementation group E [MeSH concept]
Broader ORDO disease(s)
- Zellweger syndrome [ORDO Disease]
CISMeF manual mappings
- Peroxisome Biogenesis Disorder 1A [NCIt concept]
Currated CISMeF NLP mapping
- Cerebrohepatorenal syndrome [PASCAL descriptor]
- Cerebrohepatorenal syndrome [MedDRA Preferred Term]
- Zellweger Syndrome [NCIt concept]
- Zellweger syndrome [ORDO Disease]
- Zellweger syndrome [DO Concept]
- Zellweger syndrome [MedDRA LLT]
- Zellweger syndrome (disorder) [SNOMED CT concept]
- peroxisome biogenesis disorder 1A [DO Concept]
- zellweger syndrome [SNOMED Notion]
- zellweger syndrome [MeSH Descriptor]
- zellweger syndrome [MeSH concept]
DO Cross reference
- peroxisome biogenesis disorder 1A [DO Concept]
False automatic mappings
- Lower case Roman letter z (qualifier value) [SNOMED CT concept]
- Upper case Roman letter Z (qualifier value) [SNOMED CT concept]
- Z-Coordinate [NCIt concept]
- Z-Dimension [NCIt concept]
- Zepto [NCIt concept]
- Zetta [NCIt concept]
- Zimbabwe [NCIt concept]
- caudal ganglionic eminence [UBERON concept]
Genes related to phenotype
- Peroxisome biogenesis factor 1 [OMIM gene]
HPO term(s)
- Abnormal electroretinogram [HPO term]
- Abnormal helix morphology [HPO term]
- Adrenal hypoplasia [HPO term]
- Albuminuria [HPO term]
- Aminoaciduria [HPO term]
- Anteverted nares [HPO term]
- Aplasia/Hypoplasia of the corpus callosum [HPO term]
- Areflexia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bell-shaped thorax [HPO term]
- Brachyturricephaly [HPO term]
- Breech presentation [HPO term]
- Brushfield spots [HPO term]
- Cataract [HPO term]
- Cerebral cortical atrophy [HPO term]
- Clitoral hypertrophy [HPO term]
- Congenital vertical talus [HPO term]
- Corneal opacity [HPO term]
- Cryptorchidism [HPO term]
- Cubitus valgus [HPO term]
- Death in childhood [HPO term]
- Delayed skeletal maturation [HPO term]
- Delayed speech and language development [HPO term]
- Dysphagia [HPO term]
- Elevated circulating long chain fatty acid concentration [HPO term]
- Epicanthus [HPO term]
- Epiphyseal stippling [HPO term]
- Failure to thrive [HPO term]
- Feeding difficulties [HPO term]
- Flat face [HPO term]
- Flat occiput [HPO term]
- Frequent falls [HPO term]
- Generalized hypotonia [HPO term]
- Glaucoma [HPO term]
- Global developmental delay [HPO term]
- Gray matter heterotopia [HPO term]
- Hearing impairment [HPO term]
- Hepatomegaly [HPO term]
- High forehead [HPO term]
- High palate [HPO term]
- High, narrow palate [HPO term]
- High-arched palate [HPO term]
- Hydronephrosis [HPO term]
- Hypertelorism [HPO term]
- Hypoplastic olfactory lobes [HPO term]
- Hyporeflexia [HPO term]
- Hypospadias [HPO term]
- Hypotonia [HPO term]
- Infantile onset [HPO term]
- Intellectual disability, progressive [HPO term]
- Intellectual disability, severe [HPO term]
- Intrahepatic biliary dysgenesis [HPO term]
- Loss of ambulation [HPO term]
- Low-set ears [HPO term]
- Macrocephaly [HPO term]
- Macroglossia [HPO term]
- Malar flattening [HPO term]
- Metatarsus adductus [HPO term]
- Micrognathia [HPO term]
- Neonatal onset [HPO term]
- Neonatal respiratory distress [HPO term]
- Nystagmus [HPO term]
- Opacification of the corneal stroma [HPO term]
- Optic disc pallor [HPO term]
- Patent ductus arteriosus [HPO term]
- Pigmentary retinopathy [HPO term]
- Polymicrogyria [HPO term]
- Posteriorly rotated ears [HPO term]
- Prolonged neonatal jaundice [HPO term]
- Protruding tongue [HPO term]
- Pulmonary hypoplasia [HPO term]
- Redundant neck skin [HPO term]
- Redundant skin folds [HPO term]
- Renal cortical microcysts [HPO term]
- Rocker bottom foot [HPO term]
- Round face [HPO term]
- Seizure [HPO term]
- Sensorineural hearing impairment [HPO term]
- Single transverse palmar crease [HPO term]
- Subependymal cysts [HPO term]
- Talipes equinovarus [HPO term]
- Ulnar deviation of the hand [HPO term]
- Ulnar deviation of the hand or of fingers of the hand [HPO term]
- Unsteady gait [HPO term]
- Upslanted palpebral fissure [HPO term]
- Ventricular septal defect [HPO term]
- Wide anterior fontanel [HPO term]
- Widely patent fontanelles and sutures [HPO term]
ORDO concept(s)
- Peroxisome biogenesis disorder [ORDO Disease]
- Zellweger syndrome [ORDO Disease]
See also inter- (CISMeF)
- Zellweger syndrome [Disease (Nov.)]
- Zellweger syndrome [ICD-11 More detail]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cerebrohepatorenal syndrome [MedDRA Preferred Term]
- Peroxisome Biogenesis Disorder 1A [NCIt concept]
- Zellweger Syndrome [NCIt concept]
- Zellweger syndrome [ORDO Disease]
- Zellweger syndrome [MedDRA LLT]
- Zellweger syndrome [DO Concept]
- Zellweger syndrome (disorder) [SNOMED CT concept]
- peroxisome biogenesis disorder 1A [DO Concept]
- zellweger syndrome [SNOMED Notion]
- zellweger syndrome [MeSH Descriptor]
- zellweger syndrome [MeSH concept]

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