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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
 xref: GARD:5774;   NCI:C84545
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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
Term Annotations click to browse term
  disease 16022
    disease of anatomical entity 15275
      nervous system disease 10770
        neurodegenerative disease 3144
          Nervous System Heredodegenerative Disorders 1897
            Alexander Disease 2
Path 2
Term Annotations click to browse term
  disease 16022
    Developmental Diseases 9336
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8164
        genetic disease 7688
          monogenic disease 5446
            autosomal genetic disease 4409
              autosomal dominant disease 2753
                Alexander Disease 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.