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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

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
For additional species annotation, visit the Alliance of Genome Resources.


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leukoencephalopathy with vanishing white matter term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arhgef6 Rac/Cdc42 guanine nucleotide exchange factor 6 ISO ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter ClinVar PMID:25741868 NCBI chr  X:159,722,031...159,841,344
Ensembl chr  X:159,723,866...159,841,072
JBrowse link
G Eif2b1 eukaryotic translation initiation factor 2B subunit alpha ISO ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter OMIM
ClinVar
PMID:11835386, PMID:15776425, PMID:16807905, PMID:18263758, PMID:25741868, PMID:25761052, PMID:25843247, PMID:26285592, PMID:28492532 NCBI chr12:37,444,136...37,452,391
Ensembl chr12:37,444,072...37,465,398
JBrowse link
G Eif2b2 eukaryotic translation initiation factor 2B subunit beta ISO ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter
ClinVar Annotator: match by term: Ovarioleukodystrophy
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by synonym: Ovarioleukodystrophy
ClinVar
CTD
OMIM
PMID:11704758, PMID:12707859, PMID:14566705, PMID:15060152, PMID:15136673, PMID:15776425, PMID:18263758, PMID:20301435, PMID:21484434, PMID:21560189, PMID:22128017, PMID:22430157, PMID:24033266, PMID:25741868, PMID:26740508, PMID:27159321, PMID:28492532, PMID:29706645, PMID:30266093, PMID:11704758 RGD:734925 NCBI chr 6:109,044,830...109,051,254
Ensembl chr 6:109,043,880...109,051,253
JBrowse link
G Eif2b3 eukaryotic translation initiation factor 2B subunit gamma ISO ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter OMIM
ClinVar
PMID:11835386, PMID:18414213, PMID:19158808, PMID:20301435, PMID:21484434, PMID:22312164, PMID:23932106, PMID:24028880, PMID:25079571, PMID:25326635, PMID:25741868, PMID:25761052, PMID:26162493, PMID:26467025, PMID:28492532, PMID:31072091 NCBI chr 5:135,882,946...135,949,276
Ensembl chr 5:135,882,967...135,949,818
JBrowse link
G Eif2b4 eukaryotic translation initiation factor 2B subunit delta ISO ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by synonym: Ovarioleukodystrophy
OMIM
ClinVar
CTD
PMID:11835386, PMID:12707859, PMID:25741868, PMID:25761052, PMID:25843247, PMID:26467025, PMID:26553438, PMID:28008009, PMID:28492532 NCBI chr 6:26,546,917...26,552,474
Ensembl chr 6:26,546,924...26,552,430
JBrowse link
G Eif2b5 eukaryotic translation initiation factor 2B subunit epsilon ISO ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter
ClinVar Annotator: match by term: Ovarioleukodystrophy
ClinVar Annotator: match by synonym: Ovarioleukodystrophy
CTD Direct Evidence: marker/mechanism
ClinVar
OMIM
CTD
PMID:9710032, PMID:11704758, PMID:12325082, PMID:12499492, PMID:12707859, PMID:14694060, PMID:15054402, PMID:15060152, PMID:15136673, PMID:15136689, PMID:15136690, PMID:15507143, PMID:15723074, PMID:15776425, PMID:16041584, PMID:16807905, PMID:17439913, PMID:17646634, PMID:18005052, PMID:18263758, PMID:18266750, PMID:18294360, PMID:18678442, PMID:18813718, PMID:18845387, PMID:19023445, PMID:19531691, PMID:19625339, PMID:20301435, PMID:20838246, PMID:20958979, PMID:20975056, PMID:21307862, PMID:21484434, PMID:21560189, PMID:22238342, PMID:22699478, PMID:22952606, PMID:24033266, PMID:24482476, PMID:24938145, PMID:25089094, PMID:25326635, PMID:25525159, PMID:25741868, PMID:25761052, PMID:26112719, PMID:26467025, PMID:26671108, PMID:28492532, PMID:28953922, PMID:11704758 RGD:734925 NCBI chr11:84,080,273...84,090,259
Ensembl chr11:84,080,273...84,090,259
JBrowse link
G Mlh3 mutL homolog 3 ISO ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter ClinVar PMID:25741868 NCBI chr 6:109,059,386...109,095,876
Ensembl chr 6:109,059,341...109,095,557
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      endocrine system disease 4988
        gonadal disease 902
          ovarian disease 665
            leukoencephalopathy with vanishing white matter 7
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      Urogenital Diseases 4145
        Female Urogenital Diseases and Pregnancy Complications 1895
          Female Urogenital Diseases 1589
            female reproductive system disease 1585
              Adnexal Diseases 673
                ovarian disease 665
                  leukoencephalopathy with vanishing white matter 7
paths to the root

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