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peroxisome biogenesis disorder 12A (Zellweger)

Disease Summary
Associated Targets (1)
Tbio

1


Uniprot Description A peroxisomal disorder arising from a failure of protein import into the peroxisomal membrane or matrix. The peroxisome biogenesis disorders (PBD group) are genetically heterogeneous with at least 14 distinct genetic groups as concluded from complementation studies. Include disorders are: Zellweger syndrome (ZWS), neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and classical rhizomelic chondrodysplasia punctata (RCDP). ZWS, NALD and IRD are distinct from RCDP and constitute a clinical continuum of overlapping phenotypes known as the Zellweger spectrum (PBD-ZSS).
Disease Ontology Description A peroxisomal biogenesis disorder that has_material_basis_in homozygous mutation in the PEX19 gene on chromosome 1q23.
Mondo Term and Equivalent IDs
MONDO:0013951:  peroxisome biogenesis disorder 12A (Zellweger)
UMLS:C3554002: