Genopathy
Gene-Disorder Association · Article
Gene
SLC37A4
Solute Carrier Family 37 Member 4
Disorder
Leukoencephalopathy, Progressive, With Ovarian Failure
First reported 2004
Key publication · disorder Decreased guanine nucleotide exchange factor activity in eIF2B-mutated patients.European journal of human genetics : EJHG · 2004
Manually curated
Association Review

In brief

The association between SLC37A4 (Solute Carrier Family 37 Member 4) and Leukoencephalopathy, Progressive, With Ovarian Failure is reported, with clinical genetic testing available.

Sources 1
Clinical variants 0
Symptoms 35
Compounds 0
Trials 0
Publications 0
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

1 source

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

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03
SLC37A4

The gene

1 source summary

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

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04
Leukoencephalopathy, Progressive, With Ovarian Failure

The disorder

8 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

23 clinical features

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

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06
Provenance

References & sources

5 references

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

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