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ONTOLOGY REPORT - ANNOTATIONS


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
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Pelizaeus-Merzbacher disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gjc2 gap junction protein, gamma 2 JBrowse link 10 45,526,740 45,535,520 RGD:8554872
G Lmnb1 lamin B1 JBrowse link 18 51,785,111 51,822,264 RGD:11554173
G Plp1 proteolipid protein 1 JBrowse link X 107,494,326 107,511,355 RGD:1358783
RGD:8554872
RGD:1358559
RGD:7240710
RGD:11554173
G Rab9b RAB9B, member RAS oncogene family JBrowse link X 107,531,404 107,542,510 RGD:8554872
adult-onset autosomal dominant demyelinating leukodystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lmnb1 lamin B1 JBrowse link 18 51,785,111 51,822,264 RGD:10044243
RGD:8554872
RGD:7240710

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  disease 15609
    Developmental Diseases 8986
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7802
        genetic disease 7293
          Nervous System Heredodegenerative Disorders 1738
            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 15609
    disease of anatomical entity 14966
      nervous system disease 10397
        central nervous system disease 8544
          brain disease 7900
            Metabolic Brain Diseases 482
              Metabolic Brain Diseases, Inborn 415
                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
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.