MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, NARP, SANDO
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expandleukodystrophy (MONDO:0019046)
Parent Node:
expandperoxisomal disease (MONDO:0019053)
Parent Node:
expandrare hereditary metabolic disease with peripheral neuropathy (MONDO:0016133)
..Starting node
..expandperoxisome biogenesis disorder ()

       Child Nodes:
........expandHeimler syndrome 1 ()
........expandHeimler syndrome 2 ()
........expandinfantile Refsum disease ()
........expandneonatal adrenoleukodystrophy ()
........expandperoxisome biogenesis disorder 10b ()
........expandrhizomelic chondrodysplasia punctata type 1 ()
........expandZellweger syndrome ()



 Sister Nodes: 
..expandabetalipoproteinemia ()
..expandadrenomyeloneuropathy ()
..expandadult polyglucosan body disease ()
..expandadult Refsum disease ()
..expandbeta-mannosidosis ()
..expandbiotinidase deficiency ()
..expandcataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome ()
..expandcerebrotendinous xanthomatosis ()
..expandchorea-acanthocytosis ()
..expandcongenital bile acid synthesis defect 4 ()
..expandde Barsy syndrome ()
..expandFabry disease ()
..expandfamilial isolated deficiency of vitamin E ()
..expandgyrate atrophy ()
..expandhomocystinuria due to methylene tetrahydrofolate reductase deficiency ()
..expandKrabbe disease ()
..expandLeigh-like basal ganglia disease-optic atrophy-peripheral neuropathy syndrome ()  LSDB  L: 00525;
..expandlong chain 3-hydroxyacyl-CoA dehydrogenase deficiency ()  LSDB  L: 00474;
..expandmetachromatic leukodystrophy ()
..expandmethylmalonic aciduria and homocystinuria type cblC ()
..expandmitochondrial disease with peripheral neuropathy ()
..expandNiemann-Pick disease type B ()
..expandnon-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy ()
..expandoptic atrophy-peripheral neuropathy-developmental delay syndrome ()
..expandperoxisome biogenesis disorder ()
..expandSandhoff disease ()
..expandTangier disease ()
..expandTay-Sachs disease ()
..expandtyrosinemia type I ()
..expandWilson disease ()
   

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Further data from MedGen, OMIM,ClinVar, CTD
Term ID:19234
Name:peroxisome biogenesis disorder
Definition:Peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS) is a group of autosomal recessive disorders affecting the formation of functional peroxisomes, characterized by sensorineural hearing loss, pigmentary retinal degeneration, multiple organ dysfunction and psychomotor impairment, and is comprised of the phenotypic variants Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD) (see these terms).
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Synonyms:cerebrohepatorenal syndrome; disorders of peroxisome biogenesis; PBD, ZSS; PBD-Zellweger spectrum disorder; PBD-ZSD; PBD-ZSS; peroxisomal biogenesis disorders; peroxisomal biogenesis disorders, Zellweger syndrome spectrum; peroxisome biogenesis disorder spectrum; peroxisome biogenesis disorder-Zellw
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