Peroxisome Biogenesis Disorder 4A (Zellweger)

Alternative Names

  • PBD4A
  • Peroxisome Biogenesis Disorder, Complementation Group 4
  • CG4
  • Peroxisome Biogenesis Disorder, Complementation Group 6
  • CG6
  • Peroxisome Biogenesis Disorder, Complementation Group C
  • CGC
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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

OMIM Number

614862

Mode of Inheritance

Autosomal recessive

Gene Map Locus

6p21.1

Description

The Zellweger spectrum is a group of conditions that have overlapping signs and symptoms that affect many parts of the body. These disorders include Zellweger syndrome, neonatal adrenoleukodystrophy (NALD), and infantile Refsum disease. Zellweger syndrome (ZS) is the most severe variant among these disease entities. The symptoms typically appear is in the first few hours or days of life. Affected newborns often have hypotonia, seizures, feeding difficulties, liver cysts with liver dysfunction, vision loss, hearing loss, and distinctive facial characteristics including a flattened face, broad nasal bridge, high forehead, upslanting palpebral fissures, epicanthal folds and other features.

Diagnosis could be suspected due to the characteristics of the newborn. In addition, biochemical tests can confirm the diagnosis of Zellweger syndrome. Genetic testing of the PEX6 gene can also be used to confirm the diagnosis. There is no cure for Zellweger syndrome; treatment may be symptomatic and supportive.

Molecular Genetics

Mutations in one of the twelve PEX genes; encoding peroxins are the cause of Zellweger spectrum. Mutations in PEX1 are the most common cause of Zellweger spectrum found in about 68% of the affected individuals.

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
614862.1United Arab EmiratesUnknownNM_000287.4:c.611C>GHomozygousAutosomal, RecessiveAl-Shamsi et al. 2014; Ali et al. 2011 Patient with Zellweg...
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