Alexander disease type I
MONDO:0018209Mondo
Findings
No curated finding names Alexander disease type I yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Alexander disease type I (AxD type I) is an astrogliopathy and the most severe and common form of Alexander disease (AxD), presenting before the age of 4 and characterized by seizures, megalencephaly and developmental delay with progressive deterioration.
Definition from the Mondo Disease Ontology (MONDO:0018209), read 2026-09-29. CC BY 4.0.
Features
22 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal cerebral white matter morphologyHPOHP:0002500
- Very frequent (80% to 99% of cases)
- Focal T2 hyperintense basal ganglia lesionHPOHP:0007183
- Very frequent (80% to 99% of cases)
- Abnormal pyramidal signHPOHP:0007256
- Frequent (30% to 79% of cases)
- Abnormal thalamic MRI signal intensityHPOHP:0012696
- Frequent (30% to 79% of cases)
- Cerebellar atrophyHPOHP:0001272
- Frequent (30% to 79% of cases)
- Failure to thriveHPOHP:0001508
- Frequent (30% to 79% of cases)
- Progressive macrocephalyHPOHP:0004481
- Frequent (30% to 79% of cases)
- Rosenthal fibersHPOHP:0100320
- Frequent (30% to 79% of cases)
- ScoliosisHPOHP:0002650
- Frequent (30% to 79% of cases)
- SeizureHPOHP:0001250
- Frequent (30% to 79% of cases)
- AtaxiaHPOHP:0001251
- Occasional (5% to 29% of cases)
- CachexiaHPOHP:0004326
- Occasional (5% to 29% of cases)
Show the remaining 10
- DysarthriaHPOHP:0001260
- Occasional (5% to 29% of cases)
- DysphagiaHPOHP:0002015
- Occasional (5% to 29% of cases)
- Global developmental delayHPOHP:0001263
- Occasional (5% to 29% of cases)
- HydrocephalusHPOHP:0000238
- Occasional (5% to 29% of cases)
- HyperreflexiaHPOHP:0001347
- Occasional (5% to 29% of cases)
- SpasticityHPOHP:0001257
- Occasional (5% to 29% of cases)
Where it sits
- A kind of
Other names
1 name
Resolves to: Alexander disease type I
- Also called
- AxD type I