Genopathy
Gene-Disorder Association · Article
Gene
SERPINA1
Serpin Family A Member 1
Disorder
Alpha-1-Antitrypsin Deficiency
First reported 1983
Supporting publications 133
Key publication · gene–disorder alpha 1-antitrypsin deficiency detection by direct analysis of the mutation in the gene.Nature · 1983
Key publication · disorder PULMONARY EMPHYSEMA AND ALPHA1-ANTITRYPSIN DEFICIENCY.Acta medica Scandinavica · 1964
Manually curated
Association Review

In brief

The association between SERPINA1 (Serpin Family A Member 1) and Alpha-1-Antitrypsin Deficiency is well established and manually curated, with its 5 contributing sources — 4 of them expert-curated — recording a known molecular basis, pathogenic variants, and a causative germline mutation.

Sources 5
Clinical variants 401
Symptoms 44
Compounds 1
Trials 0
Publications 133
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

5 sources

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

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03
SERPINA1

The gene

1 source summary

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

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04
Alpha-1-Antitrypsin Deficiency

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

30 clinical features

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

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06
ClinVar and variant evidence

Genetic basis

401 clinical variants

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

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07
Mechanism overlap

Shared mechanisms

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

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08
Interventions

Therapeutics

1 compound or drug

Gene-targeting drugs and associated compounds, with class, approval status, mechanism, indications and trials.

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09
Literature

Reading

133 publications

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

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10
Provenance

References & sources

17 references

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

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