Alexander disease type II
Findings
No curated finding names Alexander disease type II yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Alexander disease type II (AxD type II) is an astrogliopathy and a form of Alexander disease (AxD) characterized by ataxia, bulbar symptoms, spastic paraparesis, palatal myoclonus, and autonomic symptoms.
Definition from the Mondo Disease Ontology (MONDO:0018210), read 2026-09-29. CC BY 4.0.
Features
20 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 medulla oblongata morphologyHPOHP:0011441
- Very frequent (80% to 99% of cases)
- Cervical spinal cord atrophyHPOHP:0010873
- Very frequent (80% to 99% of cases)
- Abnormal autonomic nervous system physiologyHPOHP:0012332
- Frequent (30% to 79% of cases)
- Abnormal periventricular white matter morphologyHPOHP:0002518
- Frequent (30% to 79% of cases)
- AtaxiaHPOHP:0001251
- Frequent (30% to 79% of cases)
- Babinski signHPOHP:0003487
- Frequent (30% to 79% of cases)
- DysarthriaHPOHP:0001260
- Frequent (30% to 79% of cases)
- DysphagiaHPOHP:0002015
- Frequent (30% to 79% of cases)
- DysphoniaHPOHP:0001618
- Frequent (30% to 79% of cases)
- HyperreflexiaHPOHP:0001347
- Frequent (30% to 79% of cases)
- Limb muscle weaknessHPOHP:0003690
- Frequent (30% to 79% of cases)
- NystagmusHPOHP:0000639
- Frequent (30% to 79% of cases)
Show the remaining 8
- Palatal tremorHPOHP:0010530
- Frequent (30% to 79% of cases)
- Periventricular cystsHPOHP:0007109
- Frequent (30% to 79% of cases)
- Spastic paraparesisHPOHP:0002313
- Frequent (30% to 79% of cases)
- SpasticityHPOHP:0001257
- Frequent (30% to 79% of cases)
- Urinary bladder sphincter dysfunctionHPOHP:0002839
- Frequent (30% to 79% of cases)
- RigidityHPOHP:0002063
- Occasional (5% to 29% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- GFAPHGNC:4235
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- A kind of
Other names
1 name
Resolves to: Alexander disease type II
- Also called
- AxD type II