ONTOLOGY REPORT - ANNOTATIONS


Term:Zellweger syndrome
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Accession:DOID:905 term browser browse the term
Definition:An autosomal recessive disorder due to defects in PEROXISOME biogenesis which involves more than 13 genes encoding peroxin proteins of the peroxisomal membrane and matrix. Zellweger syndrome is typically seen in the neonatal period with features such as dysmorphic skull; MUSCLE HYPOTONIA; SENSORINEURAL HEARING LOSS; visual compromise; SEIZURES; progressive degeneration of the KIDNEYS and the LIVER. Zellweger-like syndrome refers to phenotypes resembling the neonatal Zellweger syndrome but seen in children or adults with apparently intact peroxisome biogenesis.
Synonyms:exact_synonym: PBD, ZSS;   Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum;   ZS;   ZWS;   Zellweger Disease;   Zellweger Like Syndrome;   Zellweger Spectrum;   Zellweger syndrome spectrum;   Zellweger's Syndrome;   cerebro hepato renal syndrome;   congenital iron overload;   peroxisome biogenesis disorder
 narrow_synonym: cerebrohepatorenal syndrome
 primary_id: MESH:D015211
 alt_id: RDO:0000246
 xref: GARD:7917;   ORDO:912
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Zellweger syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abcd3 ATP binding cassette subfamily D member 3 JBrowse link 2 225,335,708 225,389,120 RGD:1598658
RGD:11554173
G Cyp27a1 cytochrome P450, family 27, subfamily a, polypeptide 1 JBrowse link 9 81,968,285 81,998,213 RGD:13782195
G Gatad1 GATA zinc finger domain containing 1 JBrowse link 4 27,647,005 27,658,533 RGD:8554872
G Hsd17b4 hydroxysteroid (17-beta) dehydrogenase 4 JBrowse link 18 44,810,462 44,897,677 RGD:11554173
G Nr5a1 nuclear receptor subfamily 5, group A, member 1 JBrowse link 3 22,998,900 23,020,441 RGD:11062374
G Pex1 peroxisomal biogenesis factor 1 JBrowse link 4 27,659,376 27,698,037 RGD:8554872
RGD:11554173
G Pex10 peroxisomal biogenesis factor 10 JBrowse link 5 172,469,978 172,475,144 RGD:11554173
RGD:8554872
G Pex11b peroxisomal biogenesis factor 11 beta JBrowse link 2 198,762,138 198,771,040 RGD:13592920
G Pex12 peroxisomal biogenesis factor 12 JBrowse link 10 70,512,785 70,516,494 RGD:11554173
RGD:8554872
G Pex13 peroxisomal biogenesis factor 13 JBrowse link 14 108,394,299 108,411,994 RGD:11554173
RGD:8554872
G Pex14 peroxisomal biogenesis factor 14 JBrowse link 5 165,782,895 165,918,445 RGD:11554173
RGD:8554872
G Pex16 peroxisomal biogenesis factor 16 JBrowse link 3 81,283,137 81,292,575 RGD:11554173
RGD:8554872
G Pex19 peroxisomal biogenesis factor 19 JBrowse link 13 90,514,324 90,530,825 RGD:11554173
RGD:8554872
G Pex2 peroxisomal biogenesis factor 2 JBrowse link 2 98,251,756 98,269,185 RGD:11554173
RGD:8554872
RGD:13207457
RGD:13207456
G Pex26 peroxisomal biogenesis factor 26 JBrowse link 4 153,747,715 153,760,446 RGD:11554173
RGD:8554872
G Pex3 peroxisomal biogenesis factor 3 JBrowse link 1 7,685,209 7,726,238 RGD:11554173
RGD:8554872
G Pex5 peroxisomal biogenesis factor 5 JBrowse link 4 156,983,914 157,009,675 RGD:8554872
G Pex6 peroxisomal biogenesis factor 6 JBrowse link 9 16,568,743 16,580,900 RGD:11554173
RGD:8554872
G Phyh phytanoyl-CoA 2-hydroxylase JBrowse link 17 77,287,580 77,304,482 RGD:13831312
RGD:13831337
G Plch2 phospholipase C, eta 2 JBrowse link 5 172,386,400 172,455,965 RGD:8554872
G Pus10 pseudouridine synthase 10 JBrowse link 14 108,411,941 108,479,696 RGD:8554872
G Rer1 retention in endoplasmic reticulum sorting receptor 1 JBrowse link 5 172,476,746 172,488,822 RGD:8554872
G Scp2 sterol carrier protein 2 JBrowse link 5 127,647,934 127,735,703 RGD:13782196
Cerebrohepatorenal Syndrome, Variant Types term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pex5 peroxisomal biogenesis factor 5 JBrowse link 4 156,983,914 157,009,675 RGD:8554872
Zellweger Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abcd3 ATP binding cassette subfamily D member 3 JBrowse link 2 225,335,708 225,389,120 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14875
    syndrome 4220
      Zellweger syndrome 23
        Cerebrohepatorenal Syndrome, Variant Types 1
        Pseudo-Zellweger Syndrome 0
        Zellweger Leukodystrophy 0
        Zellweger Syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 14875
    disease of anatomical entity 14051
      nervous system disease 9116
        central nervous system disease 6913
          brain disease 6418
            Metabolic Brain Diseases 441
              Metabolic Brain Diseases, Inborn 385
                Zellweger syndrome 23
                  Cerebrohepatorenal Syndrome, Variant Types 1
                  Pseudo-Zellweger Syndrome 0
                  Zellweger Leukodystrophy 0
                  Zellweger Syndrome 2 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.