Alexander disease
Findings
No curated finding names Alexander disease yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Alexander disease (AxD) is a rare neurodegenerative disorder of the astrocytes comprised of two clinical forms: AxD Type I and Type II manifesting with various degrees of macrocephaly, spasticity, ataxia and seizures and leading to psychomotor regression and death.
Definition from the Mondo Disease Ontology (MONDO:0008752), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Death in infancy · Juvenile onset · Death in childhood · Death in adolescence · Childhood onset · Late young adult onset
HPO, annotations 2026-09-02
Features
70 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 dentate nucleus morphologyHPOHP:0100321
- 1 of 1 reported patient
- ApathyHPOHP:0000741
- 1 of 1 reported patient
- AtaxiaHPOHP:0001251
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
- Babinski signHPOHP:0003487
- 1 of 1 reported patient
- DrowsinessHPOHP:0002329
- 1 of 1 reported patient
- DysarthriaHPOHP:0001260
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
- Dysmetria
Show the remaining 58
- Abnormal speech patternHPOHP:0002167
- Very frequent (80% to 99% of cases)
- Agenesis of corpus callosumHPOHP:0001274
- Very frequent (80% to 99% of cases)
- ClonusHPOHP:0002169
- Very frequent (80% to 99% of cases)
- EEG abnormalityHPOHP:0002353
- Very frequent (80% to 99% of cases)
- Failure to thriveHPOHP:0001508
- Very frequent (80% to 99% of cases)
- Frontal bossingHPOHP:0002007
- Very frequent (80% to 99% 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
- Definitive · ClinGen · Autosomal dominant · 2024
- Definitive · G2P · Autosomal dominant · 2015
- Strong · Genomics England PanelApp · Autosomal dominant · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- A kind of
- Narrower terms (2)
Other names
1 name
Resolves to: Alexander disease
- Also called
- AxD