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Details
Link-It Detail - Disease - Alexander Disease
Debug Stats
  • ### Total Build Time: 159 ms 31.452 KB
  • CONCEPT_NAME gt=10 ms Completed: 10 ms rowSize= 332 bytes
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  • Skipping details on: CONCEPT_TEXT gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
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  • CONCEPT_GENES gt=10 ms Completed: 10 ms rowSize= 1.035 KB
  • CONCEPT_XREFS gt=14 ms Completed: 14 ms rowSize= 1.151 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
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Disease (1)
Alexander Disease C0270726
Definition (1)
A rare genetic neurodegenerative disorder which belongs to the group of leukodystrophies. It has a slow and progressive clinical course and is characterized by developmental delay, macrocephaly, seizures, dementia and spasticity.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (2)
img Hereditary Central Nervous System Demyelinating Diseases C0751877
img Heredodegenerative Disorders, Nervous System C0751870
Ancestral Roots
RootRoot Plus OneDepthParent
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 Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501236img 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 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
img Nervous System Diseases C0027765img Neurodegenerative Diseases C05248514img Heredodegenerative Disorders, Nervous System C0751870
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501234img Heredodegenerative Disorders, Nervous System C0751870
Relationships (29)

Relation Types:
diso_​to_​anat : 3
diso_​to_​chem : 1
diso_​to_​diso : 21
diso_​to_​phen : 2
diso_​to_​phys : 2


Relationships:
none : 8
is_​associated_​anatomic_​site_​of : 1
manifestation_​of : 17
mapped_​to : 1
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_PHEN48img genetic aspects C0017399
DISO_to_PHEN45img genetic aspects C0017399
DISO_to_CHEM35img Glial Fibrillary Acidic Protein C0017626
DISO_to_DISO16img Complication Aspects C1171258
DISO_to_PHYS15img Mutation C0026882
DISO_to_PHYS14img Mutation C0026882
DISO_to_ANAT12img Brain C0006104
DISO_to_ANAT10img Astrocytes C0004112
DISO_to_ANATis_associated_anatomic_site_ofimg Nervous System C0027763
DISO_to_DISOpermuted_term_ofimg ALEXANDER DISEASE C0270726
DISO_to_DISOmanifestation_ofimg Adult patients have heterogeneous symptoms including some with relapsing-remitting symptoms similar to multiple sclerosis C1859904
DISO_to_DISOmapped_toimg Alexanders leukodystrophy C2930798
DISO_to_DISOmanifestation_ofimg Average age of onset 6 months (range birth - 2 years) C1859900
DISO_to_DISOmanifestation_ofimg Caused by mutations in the glial fibrillary acidic protein gene (GFAP, 137780.0001) C1859899
DISO_to_DISOmanifestation_ofimg Cerebrospinal fluid (CSF) with increased protein C1806780
DISO_to_DISOmanifestation_ofimg Coarsened pattern of sulci and gyri C1859894
DISO_to_DISOmanifestation_ofimg Death by age 5 (infantile form) C1859901
DISO_to_DISOmanifestation_ofimg Diffuse demyelination (increased signal intensity in T2-weighted images, especially frontal lobes) C1859893
DISO_to_DISOmanifestation_ofimg Hydrocephalus C0020255
DISO_to_DISOmanifestation_ofimg Juvenile patients have slower clinical course with preserved intellect, bulbar signs, ataxia, and spasticity C1859903
DISO_to_DISOused_forimg Leucodystrophy C0023520
DISO_to_DISOmanifestation_ofimg Macrocephaly, progressive C1859896
DISO_to_DISOmanifestation_ofimg Muscle Spasticity C0026838
DISO_to_DISOmanifestation_ofimg Presence of Rosenthal fibers (cytoplasmic inclusions) in astrocytes C1859897
DISO_to_DISOmanifestation_ofimg Presence of Rosenthal fibers (eosinophilic bodies near astrocyte filaments) C1859895
Genes (1)

Species:
human : 1
SpeciesGeneGeneIdGene NameEvidence
HumanGFAP2670glial fibrillary acidic protein
Click here to display 18 evidence detail records.
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0270726Alexander Disease0self