severe Canavan disease
Findings
No curated finding names severe Canavan disease yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Severe Canavan disease (CD) is a rapidly progressing neurodegenerative disorder characterized by leukodystrophy with macrocephaly, severe developmental delay and hypotonia.
Definition from the Mondo Disease Ontology (MONDO:0017830), read 2026-09-29. CC BY 4.0.
Features
34 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.
- Absent speechHPOHP:0001344
- Very frequent (80% to 99% of cases)
- Elevated brain N-acetyl aspartate level by MRSHPOHP:0025053
- Very frequent (80% to 99% of cases)
- Elevated urine N-acetylaspartic acid levelHPOHP:0034649
- Very frequent (80% to 99% of cases)
- Functional motor deficitHPOHP:0004302
- Very frequent (80% to 99% of cases)
- Global developmental delayHPOHP:0001263
- Very frequent (80% to 99% of cases)
- HypotoniaHPOHP:0001252
- Very frequent (80% to 99% of cases)
- Inability to walkHPOHP:0002540
- Very frequent (80% to 99% of cases)
- MacrocephalyHPOHP:0000256
- Very frequent (80% to 99% of cases)
- Motor delayHPOHP:0001270
- Very frequent (80% to 99% of cases)
- Poor head controlHPOHP:0002421
- Very frequent (80% to 99% of cases)
- Visual fixation instabilityHPOHP:0025405
- Very frequent (80% to 99% of cases)
- Babinski signHPOHP:0003487
- Frequent (30% to 79% of cases)
Show the remaining 22
- Bilateral tonic-clonic seizureHPOHP:0002069
- Frequent (30% to 79% of cases)
- Cerebral white matter atrophyHPOHP:0012762
- Frequent (30% to 79% of cases)
- Feeding difficultiesHPOHP:0011968
- Frequent (30% to 79% of cases)
- Gastroesophageal refluxHPOHP:0002020
- Frequent (30% to 79% of cases)
- HyperreflexiaHPOHP:0001347
- Frequent (30% to 79% of cases)
- IrritabilityHPOHP:0000737
- Frequent (30% to 79% 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.
- ASPAHGNC:756
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
2 names
Resolves to: severe Canavan disease
- Also called
- infantile Canavan diseaseneonatal Canavan disease