Alexander disease

Preferred Label : Alexander disease;

Symbol : ALXDRD;

CISMeF acronym : ALXDRD;

Type : Phenotype, molecular basis known;

Description : In decreasing order of frequency, 3 forms of Alexander disease are recognized, based on age of onset: infantile, juvenile, and adult. Younger patients typically present with seizures, megalencephaly, developmental delay, and spasticity. In older patients, bulbar or pseudobulbar symptoms predominate, frequently accompanied by spasticity. The disease is progressive, with most patients dying within 10 years of onset. Imaging studies of the brain typically show cerebral white matter abnormalities, preferentially affecting the frontal region (Gorospe et al., 2002). All 3 forms have been shown to be caused by mutations in the;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutations in the glial fibrillary acidic protein gene (GFAP, 137780.0001);

Laboratory abnormalities : Elevated CSF protein; Presence of glial fibrillary acidic proteins (GFAP) in astrocytes; Presence of Rosenthal fibers (cytoplasmic inclusions) in astrocytes;

Prefixed ID : #203450;

Details

Origin ID

203450;

UMLS CUI

C0270726;

Automatic exact mappings (from CISMeF team)
- Alexander disease [ACR pathology]
Currated CISMeF NLP mapping
- Alexander Disease [NCIt concept]
- Alexander disease [DO Concept]
- Alexander disease [Disease (Nov.)]
- Alexander disease [PASCAL descriptor]
- Alexander disease [ICD-11 Subcategory]
- Alexander disease [MedDRA Preferred Term]
- Alexander disease [ORDO Disease]
- Alexander's disease (disorder) [SNOMED CT concept]
- alexander disease [MeSH Descriptor]
- alexander disease [MeSH concept]
- alexander's disease [SNOMED Notion]
DO Cross reference
- Alexander disease [DO Concept]
Genes related to phenotype
- Glial fibrillary acidic protein [OMIM gene]
HPO term(s)
- Adolescent onset [HPO term]
- Ataxia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bulbar signs [HPO term]
- Developmental regression [HPO term]
- Diffuse demyelination of the cerebral white matter [HPO term]
- Hydrocephalus [HPO term]
- Increased CSF protein [HPO term]
- Infantile onset [HPO term]
- Progressive macrocephaly [HPO term]
- Psychomotor regression [HPO term]
- Seizure [HPO term]
- Spasticity [HPO term]
ORDO concept(s)
- Alexander disease [ORDO Disease]
- Alexander disease type I [ORDO Disease]
- Alexander disease type II [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Alexander Disease [NCIt concept]
- Alexander disease [ORDO Disease]
- Alexander disease [DO Concept]
- Alexander disease [PASCAL descriptor]
- Alexander disease [Disease (Nov.)]
- Alexander disease [MedDRA Preferred Term]
- Alexander's disease (disorder) [SNOMED CT concept]
- alexander disease [MeSH Descriptor]
- alexander disease [MeSH concept]
- alexander's disease [SNOMED Notion]

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