Alexander Disease (ALXDRD)

Alias:
Alexander's Disease
Axd
Alxdrd
Fibrinoid Degeneration of Astrocytes
Leukodystrophy with Rosenthal Fibers
Dysmyelinogenic Leukodystrophy
Demyelinogenic Leukodystrophy
Alexander's Leukodystrophy
Alexander Disease Type Ii
Alexanders Leukodystrophy
Alexander Disease Type I
Alexanders Disease
Axd Type Ii
Axd Type I
Alx
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Alexander Disease, also known as alexander's disease, is related to leukodystrophy and multiple system atrophy 1, and has symptoms including muscle spasticity and seizures. An important gene associated with Alexander Disease is GFAP (Glial Fibrillary Acidic Protein), and among its related pathways/superpathways are COPI-independent Golgi-to-ER retrograde traffic and GDNF signaling. The drug Metronidazole has been mentioned in the context of this disorder. Affiliated tissues include spinal cord and brain, and related phenotypes are macrocephaly and intellectual disability
Related ID:
MESH:D038261
ICD11:2023359698

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Newborn
<1/1000000
32
361
95

Medical Symptom

#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

#
Gene
Function
Score
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

Title
PMID
Journal
Year
IF
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