Genopathy
Gene-Disorder Association · Article
Gene
ARSA
Arylsulfatase A
Disorder
Metachromatic Leukodystrophy
First reported 1989
Supporting publications 219
Key publication · gene–disorder Arylsulfatase A pseudodeficiency: loss of a polyadenylylation signal and N-glycosylation site.Proceedings of the National Academy of Sciences of the United States of America · 1989
Key publication · disorder Histochemistry of the eye in metachromatic leukoencephalopathy.A.M.A. archives of ophthalmology · 1958
Manually curated
Association Review

In brief

The association between ARSA (Arylsulfatase A) and Metachromatic Leukodystrophy is well established and manually curated, with its 5 contributing sources — 4 of them expert-curated — recording a known molecular basis, pathogenic and likely-pathogenic variants, and a causative germline mutation.

Sources 5
Clinical variants 1,114
Symptoms 113
Compounds 1
Trials 0
Publications 219
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
ARSA

The gene

1 source summary

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

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04
Metachromatic Leukodystrophy

The disorder

26 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

90 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

1,114 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
Interventions

Therapeutics

1 compound or drug

Gene-targeting drugs and associated compounds, with class, approval status, mechanism, indications and trials.

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09
Literature

Reading

219 publications

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

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10
Provenance

References & sources

20 references

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

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