Krabbe disease
Findings
No curated finding names Krabbe disease yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A lysosomal disorder that affects the white matter of the central and peripheral nervous systems. It includes infantile, late-infantile/juvenile and adult forms.
Definition from the Mondo Disease Ontology (MONDO:0009499), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset · Young adult onset · Childhood onset
HPO, annotations 2026-09-02
Features
55 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.
- Progressive spasticityHPOHP:0002191
- 30 of 30 reported patients
- Reduced tissue galactocerebrosidase activityHPOHP:0034322
- 29 of 29 reported patients
- Very frequent (80% to 99% of cases)
- Abnormal thumb morphologyHPOHP:0001172
- Very frequent (80% to 99% of cases)
- Abnormality of metabolism/homeostasisHPOHP:0001939
- Very frequent (80% to 99% of cases)
- Aplasia/Hypoplasia of the abdominal wall musculatureHPOHP:0010318
- Very frequent (80% to 99% of cases)
- AtaxiaHPOHP:0001251
- Very frequent (80% to 99% of cases)
Show the remaining 43
- Peripheral neuropathyHPOHP:0009830
- Very frequent (80% to 99% of cases)
- Sensorineural hearing impairmentHPOHP:0000407
- Very frequent (80% to 99% of cases)
- Sensory neuropathyHPOHP:0000763
- Very frequent (80% to 99% of cases)
- SpasticityHPOHP:0001257
- Very frequent (80% to 99% of cases)
- Visual impairmentHPOHP:0000505
- Very frequent (80% to 99% of cases)
- Axial hypotoniaHPOHP:0008936
- 23 of 30 reported patients
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.
- GALCHGNC:4115
- Definitive · ClinGen · Autosomal recessive · 2022
- Definitive · Laboratory for Molecular Medicine · Autosomal recessive · 2020
- Definitive · Myriad Women's Health · Autosomal recessive · 2018
- Definitive · G2P · Autosomal recessive · 2015
- Definitive · Natera · Autosomal recessive · 2023
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
10 names
Resolves to: Krabbe disease
- Also called
- diffuse globoid body sclerosisgalactocerebrosidase deficiencygalactosylceramidase deficiencygalactosylceramide lipidosisGALC deficiencyGALC enzyme deficiencygloboid cell leukodystrophygloboid cell leukoencephalopathyKrabbe's leukodystrophyLeukodystrophy, Krabbe's