Genopathy
Gene-Disorder Association · Article
Gene
CAPN3
Calpain 3
Disorder
Progressive Muscular Atrophy
First reported 1950
Key publication · disorder [Werdnig-Hoffmann's infantile progressive muscular atrophy; clinical aspects, pathology, heredity, and relation to Oppenheim's amyotonia congenita and other morbid conditions with laxity of the joints or muscles in children].Nordisk medicin · 1950
Association Review

In brief

The association between CAPN3 (Calpain 3) and Progressive Muscular Atrophy is supported by expert-curated evidence, drawing on a single expert-curated source, which records pathogenic variants.

Sources 1
Clinical variants 2
Symptoms 0
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.

Request access
02
Provenance

Evidence and sources

1 source

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

Request access
03
CAPN3

The gene

2 source summaries

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

Request access
04
Progressive Muscular Atrophy

The disorder

9 database identifiers

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

Request access
05
ClinVar and variant evidence

Genetic basis

2 clinical variants

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

Request access
06
Provenance

References & sources

4 references

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

Request access