Genopathy
Gene-Disorder Association · Article
Gene
GALC
Galactosylceramidase
Disorder
Krabbe Disease
First reported 1980
Supporting publications 123
Key publication · gene–disorder The Twitcher mouse: an enzymatically authentic model of human globoid cell leukodystrophy (Krabbe disease).Brain research · 1980
Key publication · disorder [Topologic value of radiologic and electroencephalographic signs in Sturge-Weber-Krabbe disease].Schweizer Archiv fur Neurologie und Psychiatrie. Archives suisses de neurologie et de psychiatrie. Archivio svizzero di neurologia e psichiatria · 1950
Manually curated
Association Review

In brief

The association between GALC (Galactosylceramidase) and Krabbe Disease is well established and manually curated, with its 5 contributing sources — 4 of them expert-curated — recording a known molecular basis, likely-pathogenic variants, and a causative germline mutation.

Sources 5
Clinical variants 1,266
Symptoms 168
Compounds 0
Trials 0
Publications 123
01
At a glance

Association overview

A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.

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02
Provenance

Evidence and sources

5 sources

Every contributing database and publication behind this association, with evidence type, strength, accessions and deep links.

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03
GALC

The gene

1 source summary

A gene summary alongside the source descriptions it was distilled from.

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04
Krabbe Disease

The disorder

17 database identifiers

The disorder’s summary, prevalence, aliases and cross-reference identifiers (OMIM, Orphanet, MONDO, ICD-10, MedGen).

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05
Phenotype

Clinical features

140 clinical features

The disorder’s clinical features (HPO) grouped by body system, each with observed frequency and penetrance.

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06
ClinVar and variant evidence

Genetic basis

1,266 clinical variants

ClinVar variants reported for this pair, with disorder-specific significance, review status, molecular consequence and origin.

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07
Mechanism overlap

Shared mechanisms

1 shared pathway

Biological pathways and phenotype concepts shared by the gene and the disorder, with supporting publications.

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08
Literature

Reading

123 publications

Publications linking the gene and the disorder, with title, authors, journal, year and citation metrics.

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09
Provenance

References & sources

20 references

Every source and publication cited across this dossier, as one numbered reference list.

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