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Details
Link-It Detail - Disease - Pelizaeus-Merzbacher Disease
Debug Stats
  • ### Total Build Time: 36 ms 38.209 KB
  • CONCEPT_NAME gt=2 ms Completed: 2 ms rowSize= 354 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
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  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Pelizaeus-Merzbacher Disease C0205711
Definition (1)
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)
Semantic Types (1)
Disease or Syndrome (T047)
Parents (2)
img Genetic Diseases, X-Linked C1138434
img Hereditary Central Nervous System Demyelinating Diseases C0751877
Ancestral Roots
RootRoot Plus OneDepthParent
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501234img Genetic Diseases, X-Linked C1138434
img Nervous System Diseases C0027765img Central Nervous System Diseases C00076825img Hereditary Central Nervous System Demyelinating Diseases C0751877
img Nervous System Diseases C0027765img Central Nervous System Diseases C00076826img Hereditary Central Nervous System Demyelinating Diseases C0751877
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255176img Hereditary Central Nervous System Demyelinating Diseases C0751877
img Nervous System Diseases C0027765img Central Nervous System Diseases C00076827img Hereditary Central Nervous System Demyelinating Diseases C0751877
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501236img Hereditary Central Nervous System Demyelinating Diseases C0751877
img Nervous System Diseases C0027765img Demyelinating Diseases C00113034img Hereditary Central Nervous System Demyelinating Diseases C0751877
img Nervous System Diseases C0027765img Neurodegenerative Diseases C05248515img Hereditary Central Nervous System Demyelinating Diseases C0751877
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501235img Hereditary Central Nervous System Demyelinating Diseases C0751877
Relationships (47)

Relation Types:
diso_​to_​chem : 3
diso_​to_​diso : 41
diso_​to_​phen : 2
diso_​to_​phys : 1


Relationships:
none : 6
inheritance_​type_​of : 1
isa : 6
manifestation_​of : 32
permuted_​term_​of : 1
used_​for : 1
Page Size
Current 25
  Page 1 of 2
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN55img genetic aspects C0017399
DISO_to_PHEN48img genetic aspects C0017399
DISO_to_CHEM32img Myelin Proteolipid Protein C0060617
DISO_to_CHEM28img Myelin Proteolipid Protein C0060617
DISO_to_CHEM20img Membrane Associated Proteins C0025252
DISO_to_PHYS17img Mutation C0026882
DISO_to_DISOmanifestation_ofimg Absent myelination of the brain (severe connatal form) C1839447
DISO_to_DISOmanifestation_ofimg Ataxia C0004134
DISO_to_DISOmanifestation_ofimg CHOREOATHETOSIS C0085583
DISO_to_DISOisaimg CLASSIC PELIZAEUS MERZBACHER DIS C0751916
DISO_to_DISOmanifestation_ofimg Caused by mutation in the proteolipid protein 1 gene (PLP1, 300401.0001) C3275643
DISO_to_DISOmanifestation_ofimg Classical form (type I), less severe with survival into adulthood C1839452
DISO_to_DISOmanifestation_ofimg Connatal form (type II), most severe with death in first decade C1839451
DISO_to_DISOmanifestation_ofimg Decreased Reflex C0151888
DISO_to_DISOmanifestation_ofimg Decreased or absent brainstem auditory evoked potentials (BAEP) of waves III-V C3275641
DISO_to_DISOmanifestation_ofimg Diffuse white matter hyperintensities on T2-weighed imaging C3275640
DISO_to_DISOmanifestation_ofimg Dysarthria C0013362
DISO_to_DISOmanifestation_ofimg Dysmyelination of the brain, myelin is not formed properly C1839446
DISO_to_DISOmanifestation_ofimg Dystonia C0013421
DISO_to_DISOmanifestation_ofimg Hearing impairment may improve with age C3275644
DISO_to_DISOmanifestation_ofimg Hearing impairment may occur C3275642
DISO_to_DISOmanifestation_ofimg Intellectual Disability C0025362
DISO_to_DISOmanifestation_ofimg Lack of psychomotor development (severe connatal form) C1839444
DISO_to_DISOused_forimg Leucodystrophy C0023520
DISO_to_DISOmanifestation_ofimg MICROCEPHALY C0025958
Genes (3)

Species:
human : 3
SpeciesGeneGeneIdGene NameEvidence
HumanGJC257165gap junction protein, gamma 2, 47kDa
img OMIM, Score=862, UMLKSK CUI: C0205711
HumanPLP15354proteolipid protein 1
img GENERIF, Score=1000, Pubmed Id: 17962415, UMLKSK CUI: C0205711
img GENERIF, Score=923, Pubmed Id: 15837131, UMLKSK CUI: C0205711
img GAD, Score=909, Pubmed Id: 10425042, UMLKSK CUI: C0205711
img GENERIF, Score=1000, Pubmed Id: 15753308, UMLKSK CUI: C0205711
img OMIM, Score=1000, UMLKSK CUI: C0205711
img GENERIF, Score=694, Pubmed Id: 18190592, UMLKSK CUI: C0205711
img GENERIF, Score=1000, Pubmed Id: 18470932, UMLKSK CUI: C0205711
img GENERIF, Score=1000, Pubmed Id: 12491939, UMLKSK CUI: C0205711
img GENERIF, Score=1000, Pubmed Id: 19024090, UMLKSK CUI: C0205711
HumanGJA32700gap junction protein, alpha 3, 46kDa
img GENERIF, Score=1000, Pubmed Id: 17492548, UMLKSK CUI: C0205711
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0205711Pelizaeus-Merzbacher Disease0self