Term:Alexander Disease
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Accession:DOID:4252 term browser browse the term
Definition:Rare leukoencephalopathy with infantile-onset accumulation of Rosenthal fibers in the subpial, periventricular, and subependymal zones of the brain. Rosenthal fibers are GLIAL FIBRILLARY ACIDIC PROTEIN aggregates found in ASTROCYTES. Juvenile- and adult-onset types show progressive atrophy of the lower brainstem instead. De novo mutations in the GFAP gene are associated with the disease with propensity for paternal inheritance.
Synonyms:exact_synonym: ALXDRD;   Alexander's Disease;   Alexanders Disease;   Alexanders Leukodystrophy;   Demyelinogenic Leukodystrophy;   Dysmyelinogenic Leukodystrophy;   Fibrinoid Degeneration of Astrocytes;   Leukodystrophy with Rosenthal Fibers
 primary_id: MESH:D038261
 alt_id: DOID:9002692;   MESH:C531607;   OMIA:001208;   OMIM:203450;   RDO:0000025;   RDO:0000026
 xref: GARD:5774
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Alexander Disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccdc103 coiled-coil domain containing 103 JBrowse link 10 90,984,213 90,987,829 RGD:8554872
G Gfap glial fibrillary acidic protein JBrowse link 10 90,990,762 90,999,435 RGD:7240710

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Path 1
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  disease 14920
    disease of anatomical entity 14086
      nervous system disease 9150
        neurodegenerative disease 2536
          Nervous System Heredodegenerative Disorders 1609
            Alexander Disease 2
Path 2
Term Annotations click to browse term
  disease 14920
    Developmental Diseases 7769
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7091
        genetic disease 6451
          monogenic disease 3222
            autosomal genetic disease 2160
              autosomal dominant disease 1111
                Alexander Disease 2
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