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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:Pelizaeus-Merzbacher disease
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Accession:DOID:3210 term browser browse the term
Definition:A rare, slowly progressive disorder of myelin formation. Subtypes are referred to as classic, congenital, transitional, and adult forms of this disease. The classic form is X-chromosome linked, has its onset in infancy and is associated with a mutation of the proteolipid protein gene. Clinical manifestations include TREMOR, spasmus nutans, roving eye movements, ATAXIA, spasticity, and NYSTAGMUS, CONGENITAL. Death occurs by the third decade of life. The congenital form has similar characteristics but presents early in infancy and features rapid disease progression. Transitional and adult subtypes have a later onset and less severe symptomatology. Pathologic features include patchy areas of demyelination with preservation of perivascular islands (trigoid appearance). (From Menkes, Textbook of Child Neurology, 5th ed, p190)
Synonyms:exact_synonym: Brain Pelizaeus-Merzbacher Sclerosis;   Classic Pelizaeus Merzbacher Disease;   Cockayne Pelizaeus Merzbacher Disease;   HLD1;   LEUKODYSTROPHY, DEMYELINATING, ADULT-ONSET, AUTOSOMAL DOMINANT;   Leukodystrophy, Hypomyelinating, 1;   Leukodystrophy, sudanophilic;   PELIZAEUS-MERZBACHER DISEASE, AUTOSOMAL DOMINANT OR LATE-ONSET TYPE;   PMD;   adult Pelizaeus Merzbacher disease;   atypical Pelizaeus Merzbacher disease;   diffuse familial brain sclerosis;   sudanophilic leukodystrophy, Paelizeus-Merzbacher type;   transitional Pelizaeus Merzbacher disease
 narrow_synonym: PELIZAEUS-MERZBACHER DISEASE, CONNATAL;   Pelizaeus-Merzbacher disease, mild
 primary_id: MESH:D020371
 alt_id: OMIA:000770;   OMIM:312080
 xref: GARD:4265;   NCI:C75487;   ORDO:702
For additional species annotation, visit the Alliance of Genome Resources.


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Pelizaeus-Merzbacher disease term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gjc2 gap junction protein, gamma 2 ISO ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:23143715, PMID:25741868, PMID:31319225 NCBI chr10:45,526,740...45,535,520
Ensembl chr10:45,526,745...45,534,570
JBrowse link
G Lmnb1 lamin B1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr18:51,785,111...51,822,264
Ensembl chr18:51,785,111...51,822,264
JBrowse link
G Plp1 proteolipid protein 1 ISO ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease
ClinVar Annotator: match by term: Pelizaeus-merzbacher disease, atypical
DNA:missense mutation:cds:p.A246T (human)
ClinVar Annotator: match by OMIM:312080
ClinVar Annotator: match by term: Pelizaeus-merzbacher disease, atypical, UMLS MESH term: Atypical Pelizaeus Merzbacher Disease
ClinVar Annotator: match by term: Pelizaeus-merzbacher disease, connatal
ClinVar Annotator: match by term: Pelizaeus-merzbacher disease, mild
CTD Direct Evidence: marker/mechanism
ClinVar
OMIM
CTD
PMID:1376966, PMID:1384324, PMID:1605230, PMID:1707231, PMID:1715570, PMID:1720927, PMID:2479017, PMID:2480601, PMID:2773936, PMID:3827224, PMID:7573159, PMID:7574457, PMID:7683951, PMID:8659540, PMID:8696336, PMID:8723686, PMID:8786077, PMID:9056547, PMID:9482656, PMID:9633722, PMID:9634530, PMID:11071483, PMID:12605435, PMID:12910435, PMID:16380909, PMID:18571143, PMID:18835559, PMID:19396823, PMID:20301361, PMID:24088041, PMID:25326635, PMID:25491635, PMID:25741868, PMID:26125040, PMID:26633545, PMID:27535533, PMID:28492532, PMID:29451896, PMID:14572140, PMID:10425042 RGD:1358783, RGD:1358559 NCBI chr  X:107,494,326...107,511,355
Ensembl chr  X:107,496,072...107,511,348
JBrowse link
G Rab9b RAB9B, member RAS oncogene family ISO ClinVar Annotator: match by term: Pelizaeus-merzbacher disease, connatal
ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease
ClinVar Annotator: match by term: Pelizaeus-merzbacher disease, mild
ClinVar Annotator: match by term: Pelizaeus-merzbacher disease, atypical
ClinVar PMID:1376966, PMID:1384324, PMID:1605230, PMID:1707231, PMID:1715570, PMID:2479017, PMID:2480601, PMID:2773936, PMID:3827224, PMID:7573159, PMID:7574457, PMID:7683951, PMID:8696336, PMID:8786077, PMID:9056547, PMID:9482656, PMID:11071483, PMID:12910435, PMID:19396823, PMID:20301361, PMID:24088041, PMID:25326635, PMID:25491635, PMID:25741868, PMID:26125040, PMID:26633545, PMID:28492532, PMID:29451896 NCBI chr  X:107,531,404...107,542,510
Ensembl chr  X:107,531,404...107,542,510
JBrowse link
adult-onset autosomal dominant demyelinating leukodystrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmnb1 lamin B1 ISO DNA:duplication:cds (human)
ClinVar Annotator: match by term: Leukodystrophy, Adult-Onset
ClinVar Annotator: match by term: Leukodystrophy, adult-onset, autosomal dominant
ClinVar
OMIM
PMID:16951681, PMID:19151023, PMID:21225301, PMID:21909802, PMID:23649844, PMID:25741868, PMID:28492532, PMID:16951681 RGD:10044243 NCBI chr18:51,785,111...51,822,264
Ensembl chr18:51,785,111...51,822,264
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    Developmental Diseases 9506
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8364
        genetic disease 7847
          Nervous System Heredodegenerative Disorders 1947
            Hereditary Central Nervous System Demyelinating Diseases 40
              hypomyelinating leukodystrophy 24
                Pelizaeus-Merzbacher disease 4
                  Pelizaeus-Merzbacher like Brain Sclerosis 0
                  adult-onset autosomal dominant demyelinating leukodystrophy 1
Path 2
Term Annotations click to browse term
  disease 16103
    disease of anatomical entity 15351
      nervous system disease 10863
        central nervous system disease 9005
          brain disease 8328
            Metabolic Brain Diseases 574
              Metabolic Brain Diseases, Inborn 503
                Hereditary Central Nervous System Demyelinating Diseases 40
                  hypomyelinating leukodystrophy 24
                    Pelizaeus-Merzbacher disease 4
                      Pelizaeus-Merzbacher like Brain Sclerosis 0
                      adult-onset autosomal dominant demyelinating leukodystrophy 1
paths to the root

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