Canavan disease
Findings
No curated finding names Canavan disease yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A neurodegenerative disorder; its spectrum varies between severe forms with leukodystrophy, macrocephaly and severe developmental delay, and a very rare mild/juvenile form characterized by mild developmental delay.
Definition from the Mondo Disease Ontology (MONDO:0010079), read 2026-09-29. CC BY 4.0.
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
28 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 pyramidal signHPOHP:0007256
- 12 of 12 reported patients
- Elevated brain N-acetyl aspartate level by MRSHPOHP:0025053
- 10 of 10 reported patients
- Global developmental delayHPOHP:0001263
- 12 of 12 reported patients
- Very frequent (80% to 99% of cases)
- Reduced aspartoacylase activity in cultured fibroblastsHPOHP:6000354
- 22 of 22 reported patients
- Visual impairmentHPOHP:0000505
- 12 of 12 reported patients
- Frequent (30% to 79% of cases)
- Cognitive impairmentHPOHP:0100543
- Very frequent (80% to 99% of cases)
Show the remaining 16
- BlindnessHPOHP:0000618
- Frequent (30% to 79% of cases)
- Gastroesophageal refluxHPOHP:0002020
- Frequent (30% to 79% of cases)
- Hearing impairmentHPOHP:0000365
- Frequent (30% to 79% of cases)
- HypertoniaHPOHP:0001276
- Frequent (30% to 79% of cases)
- HypotoniaHPOHP:0001252
- Frequent (30% to 79% of cases)
- MacrocephalyHPOHP:0000256
- 7 of 12 reported patients
- 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
- Definitive · ClinGen · Autosomal recessive · 2020
- Definitive · Myriad Women's Health · Autosomal recessive · 2018
- Definitive · G2P · Autosomal recessive · 2015
- Definitive · Natera · Autosomal recessive · 2022
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- Narrower terms (2)
Other names
6 names
Resolves to: Canavan disease
- Also called
- ACY2 deficiencyaminoacylase 2 deficiencyaspartoacylase deficiencyCanavan-VAN Bogaert-Bertrand diseasespongy degeneration of central nervous systemspongy degeneration of the brain