Genopathy
Gene-Disorder Association · Article
Gene
AARS1
Alanyl-TRNA Synthetase 1
Disorder
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 2
First reported 2019
Supporting publications 2
Key publication · gene–disorder An AARS variant as the likely cause of Swedish type hereditary diffuse leukoencephalopathy with spheroids.Acta neuropathologica communications · 2019
Key publication · disorder Hereditary diffuse leucoencephalopathy with spheroids.Acta psychiatrica Scandinavica. Supplementum · 1984
Manually curated
Association Review

In brief

The association between AARS1 (Alanyl-TRNA Synthetase 1) and Leukoencephalopathy, Hereditary Diffuse, With Spheroids 2 is well established and manually curated, with its 4 contributing sources — 3 of them expert-curated — recording a known molecular basis, pathogenic variants, and causative variation.

Sources 4
Clinical variants 11
Symptoms 41
Compounds 0
Trials 0
Publications 2
01
At a glance

Association overview

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

Request access
02
Provenance

Evidence and sources

4 sources

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

Request access
03
AARS1

The gene

1 source summary

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

Request access
04
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 2

The disorder

6 database identifiers

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

Request access
05
Phenotype

Clinical features

12 clinical features

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

Request access
06
ClinVar and variant evidence

Genetic basis

11 clinical variants

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

Request access
07
Mechanism overlap

Shared mechanisms

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

Request access
08
Literature

Reading

2 publications

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

Request access
09
Provenance

References & sources

8 references

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

Request access