Genopathy
Gene-Disorder Association · Article
Gene
SLC4A1
Solute Carrier Family 4 Member 1 (Diego Blood Group)
Disorder
Hereditary Spherocytosis
First reported 1994
Supporting publications 19
Key publication · gene–disorder Duplication of 10 nucleotides in the erythroid band 3 (AE1) gene in a kindred with hereditary spherocytosis and band 3 protein deficiency (band 3PRAGUE).The Journal of clinical investigation · 1994
Key publication · disorder Hemolytic crisis in hereditary spherocytosis: study of a family of five with concurrent crises.Annals of internal medicine · 1950
Manually curated
Association Review

In brief

The association between SLC4A1 (Solute Carrier Family 4 Member 1 (Diego Blood Group)) and Hereditary Spherocytosis is a manually-curated gene–disease association, with its 2 contributing sources — 1 of them expert-curated — recording a causative germline mutation.

Sources 2
Clinical variants 1
Symptoms 28
Compounds 0
Trials 0
Publications 19
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

2 sources

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

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03
SLC4A1

The gene

1 source summary

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

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04
Hereditary Spherocytosis

The disorder

11 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

27 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

1 clinical variant

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
Literature

Reading

19 publications

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

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09
Provenance

References & sources

15 references

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

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