Genopathy
Gene-Disorder Association · Article
Gene
SLC52A3
Solute Carrier Family 52 Member 3
Disorder
Spinal Muscular Atrophy, Type Ii
First reported 1969
Key publication · disorder A distal form of chronic spinal muscular atrophy.Neurology · 1969
Manually curated
Association Review

In brief

The association between SLC52A3 (Solute Carrier Family 52 Member 3) and Spinal Muscular Atrophy, Type Ii is reported, with clinical genetic testing available.

Sources 1
Clinical variants 0
Symptoms 13
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
SLC52A3

The gene

1 source summary

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

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04
Spinal Muscular Atrophy, Type Ii

The disorder

13 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

8 clinical features

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

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06
Mechanism overlap

Shared mechanisms

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

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07
Provenance

References & sources

6 references

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

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