Genopathy
Gene-Disorder Association · Article
Gene
SMARCAL1
SNF2 Related Chromatin Remodeling Annealing Helicase 1
Disorder
Spondyloenchondrodysplasia With Immune Dysregulation
First reported 1958
Key publication · disorder [A case of infantile generalized lupus erythematosus with unusual bone changes].Helvetica paediatrica acta · 1958
Manually curated
Association Review

In brief

The association between SMARCAL1 (SNF2 Related Chromatin Remodeling Annealing Helicase 1) and Spondyloenchondrodysplasia With Immune Dysregulation is reported, with clinical genetic testing available.

Sources 1
Clinical variants 0
Symptoms 115
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
SMARCAL1

The gene

1 source summary

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

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04
Spondyloenchondrodysplasia With Immune Dysregulation

The disorder

12 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

88 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

7 references

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

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