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ONTOLOGY REPORT - ANNOTATIONS


Term:leukoencephalopathy with vanishing white matter
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Accession:DOID:0060868 term browser browse the term
Definition:A leukodystrophy characterized by variable neurologic features resulting from deficiency in astrocyte maturation, including progressive cerebellar ataxia, spasticity, and cognitive impairment associated with white matter lesions on brain imaging with onset from early infancy to adulthood that has material_basis_in homozygous or compound heterozygous mutation in any of the 5 genes encoding subunits of the translation initiation factor EIF2B: EIF2B1 on chromosome 12q24, EIF2B2 on chromosome 14q24, EIF2B3 on chromosome 1p34, EIF2B4 on chromosome 2p23, or EIF2B5 on chromosome 3q27. (DO)
Synonyms:exact_synonym: CACH;   CLE;   Cree leukoencephalopathy;   VWM;   childhood ataxia with central nervous system hypomyelination;   childhood ataxia with central nervous system hypomyelinization;   vanishing white matter leukodystrophy;   vanishing white matter leukodystrophy with ovarian failure
 narrow_synonym: ovarioleukodystrophy
 primary_id: MESH:C565836
 alt_id: OMIM:603896
 xref: GARD:231;   NCI:C122664;   ORDO:135
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leukoencephalopathy with vanishing white matter term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Eif2b1 eukaryotic translation initiation factor 2B subunit alpha JBrowse link 12 37,444,136 37,452,391 RGD:7240710
RGD:8554872
G Eif2b2 eukaryotic translation initiation factor 2B subunit beta JBrowse link 6 109,044,830 109,051,254 RGD:734925
RGD:8554872
RGD:11554173
RGD:7240710
G Eif2b3 eukaryotic translation initiation factor 2B subunit gamma JBrowse link 5 135,882,946 135,949,276 RGD:7240710
RGD:8554872
G Eif2b4 eukaryotic translation initiation factor 2B subunit delta JBrowse link 6 26,546,917 26,552,474 RGD:7240710
RGD:8554872
RGD:11554173
G Eif2b5 eukaryotic translation initiation factor 2B subunit epsilon JBrowse link 11 84,080,273 84,090,259 RGD:734925
RGD:8554872
RGD:7240710
RGD:11554173
G Gtf2h3 general transcription factor IIH subunit 3 JBrowse link 12 37,427,556 37,444,027 RGD:8554872
G Mlh3 mutL homolog 3 JBrowse link 6 109,059,386 109,095,876 RGD:8554872

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Path 1
Term Annotations click to browse term
  disease 16021
    disease of anatomical entity 15274
      endocrine system disease 4935
        gonadal disease 868
          ovarian disease 658
            leukoencephalopathy with vanishing white matter 7
Path 2
Term Annotations click to browse term
  disease 16021
    disease of anatomical entity 15274
      Urogenital Diseases 4033
        Female Urogenital Diseases and Pregnancy Complications 1823
          Female Urogenital Diseases 1528
            female reproductive system disease 1524
              Adnexal Diseases 664
                ovarian disease 658
                  leukoencephalopathy with vanishing white matter 7
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.