Krabbe disease
E942551
autosomal recessive disease
inborn error of metabolism
leukodystrophy
lysosomal storage disease
neurodegenerative disease
rare disease
Krabbe disease is a rare, inherited neurodegenerative disorder that destroys the protective myelin sheath of nerve cells in the brain and nervous system, typically leading to severe developmental regression and early death in infancy or childhood.
All labels observed (4)
| Label | Occurrences |
|---|---|
| Krabbe disease canonical | 3 |
| galactosylceramide lipidosis | 1 |
| globoid cell leukodystrophy | 1 |
| infantile Krabbe disease | 1 |
How this entity was disambiguated
This entity first appeared as the object of triple T11714076 — resolving that mention is where its identity was fixed. The disambiguator weighed these candidate entities and picked the highlighted one (or “None”, minting a new entity). This is how homonymy is resolved: the same surface form can point to different entities.
NED1
Entity disambiguation (via context triple)
gpt-5-mini-2025-08-07
Target entity: Krabbe disease Context triple: [Hunter Kelly, medicalCondition, Krabbe disease]
-
A.
Zellweger
Zellweger is the surname of Renée Zellweger, the acclaimed American actress known for roles in films such as "Bridget Jones's Diary," "Chicago," and "Judy."
-
B.
Joubbé
Joubbé is a locality in Lebanon that forms part of the pastoral territory served by the Maronite Catholic Eparchy of Joubbé, Sarba and Jounieh.
-
C.
Meckingsen
Meckingsen is a village-level district that forms part of the town of Soest in North Rhine-Westphalia, Germany.
-
D.
Huntington-Whiteley
Huntington-Whiteley is the hyphenated surname of English model and actress Rosie Huntington-Whiteley, known for her work with Victoria’s Secret and in films like "Mad Max: Fury Road."
-
E.
Huntington's chorea
Huntington's chorea is a hereditary neurodegenerative disorder characterized by progressive motor dysfunction, cognitive decline, and psychiatric symptoms, typically manifesting in mid-adulthood.
- F. None of above. chosen
- G. Unsure - the case is ambiguous/there is not enough information to decide.
NED2
Entity disambiguation (via description)
gpt-5-mini-2025-08-07
Target entity: Krabbe disease Target entity description: Krabbe disease is a rare, inherited neurodegenerative disorder that destroys the protective myelin sheath of nerve cells in the brain and nervous system, typically leading to severe developmental regression and early death in infancy or childhood.
-
A.
Zellweger
Zellweger is the surname of Renée Zellweger, the acclaimed American actress known for roles in films such as "Bridget Jones's Diary," "Chicago," and "Judy."
-
B.
Joubbé
Joubbé is a locality in Lebanon that forms part of the pastoral territory served by the Maronite Catholic Eparchy of Joubbé, Sarba and Jounieh.
-
C.
Meckingsen
Meckingsen is a village-level district that forms part of the town of Soest in North Rhine-Westphalia, Germany.
-
D.
Huntington-Whiteley
Huntington-Whiteley is the hyphenated surname of English model and actress Rosie Huntington-Whiteley, known for her work with Victoria’s Secret and in films like "Mad Max: Fury Road."
-
E.
Huntington's chorea
Huntington's chorea is a hereditary neurodegenerative disorder characterized by progressive motor dysfunction, cognitive decline, and psychiatric symptoms, typically manifesting in mid-adulthood.
- F. None of above. chosen
Statements (60)
| Predicate | Object |
|---|---|
| instanceOf |
autosomal recessive disease
ⓘ
inborn error of metabolism ⓘ leukodystrophy ⓘ lysosomal storage disease ⓘ neurodegenerative disease ⓘ rare disease ⓘ |
| accumulatesSubstrate |
galactocerebroside
ⓘ
psychosine ⓘ |
| affectsCellType |
Schwann cells
ⓘ
oligodendrocytes ⓘ |
| affectsSystem |
central nervous system
ⓘ
peripheral nervous system ⓘ |
| belongsToPathway | sphingolipid metabolism ⓘ |
| biochemicalDefect | deficiency of galactocerebrosidase ⓘ |
| carrierFrequency | increased in certain isolated populations ⓘ |
| causedByMutationIn | GALC gene ⓘ |
| causes |
cognitive decline
ⓘ
progressive neurodegeneration ⓘ severe motor impairment ⓘ |
| cellularFeature | presence of globoid cells in white matter ⓘ |
| diagnosticTest |
MRI of brain
ⓘ
measurement of GALC enzyme activity ⓘ molecular genetic testing of GALC gene ⓘ |
| geneLocation | chromosome 14q31 ⓘ |
| hasSynonym |
galactosylceramide lipidosis
ⓘ
linked to:
Krabbe disease
globoid cell leukodystrophy ⓘ
linked to:
Krabbe disease
|
| ICD10 | E75.2 ⓘ |
| inheritancePattern | autosomal recessive ⓘ |
| management | supportive care ⓘ |
| modeOfInheritanceRisk | 25 percent recurrence risk for each pregnancy of carrier parents ⓘ |
| mostCommonForm |
infantile Krabbe disease
ⓘ
linked to:
Krabbe disease
|
| MRICharacteristic | diffuse white matter abnormalities ⓘ |
| namedAfter | Knud Haraldsen Krabbe ⓘ |
| newbornScreeningAvailableIn | some regions of the United States ⓘ |
| OMIMID | 245200 ⓘ |
| onset |
adult
ⓘ
infantile ⓘ juvenile ⓘ late-infantile ⓘ |
| OrphanetID | ORPHA:526 ⓘ |
| prevalence | approximately 1 in 100000 births ⓘ |
| primaryPathology |
demyelination
ⓘ
loss of myelin sheath ⓘ |
| prognosis |
poor for infantile form
ⓘ
variable for later-onset forms ⓘ |
| symptom |
developmental regression
ⓘ
feeding difficulties ⓘ hearing loss ⓘ hypertonia ⓘ irritability ⓘ opisthotonus ⓘ peripheral neuropathy ⓘ seizures ⓘ spasticity ⓘ stiffness ⓘ vision loss ⓘ |
| treatment | hematopoietic stem cell transplantation ⓘ |
| treatmentTiming | most effective when performed presymptomatically ⓘ |
| typicalAgeOfOnsetInfantile | before 6 months of age ⓘ |
| typicalSurvivalInfantile | before 2 years of age ⓘ |
How these facts were elicited
The pipeline generated the facts above by prompting gpt-5.1 with this entity's name + description and the instruction below.
Instruction
You are a knowledge base construction expert. Given a subject entity and a description of it, return factual statements that you know for the subject as a JSON list of dictionaries(triples), where keys must be "subject", "predicate" and "object". The number of facts may be very high, between 25 to 50 or more, for very popular subjects. For less popular subjects, the number of facts can be very low, like 5 or 10. # Requirements - If you don't know the subject at all, return an empty list. - If the subject is not a named entity, return an empty list. - Include at least one triple where predicate is "instanceOf". - Do not get too wordy. - Separate several objects into multiple triples with one object.
Input
Subject: Krabbe disease Description of subject: Krabbe disease is a rare, inherited neurodegenerative disorder that destroys the protective myelin sheath of nerve cells in the brain and nervous system, typically leading to severe developmental regression and early death in infancy or childhood.
Referenced by (6)
Full triples — surface form annotated when it differs from this entity's canonical label.
linked to: Krabbe disease
linked to: Krabbe disease
linked to: Krabbe disease