Genopathy
Gene-Disorder Association · Article
Gene
SPTB
Spectrin Beta, Erythrocytic
Disorder
Hereditary Elliptocytosis
First reported 1991
Supporting publications 11
Key publication · gene–disorder Spectrin Rouen (beta 220-218), a novel shortened beta-chain variant in a kindred with hereditary elliptocytosis. Characterization of the molecular defect as exon skipping due to a splice site mutation.The Journal of clinical investigation · 1991
Key publication · disorder [Case of familial ovalocytosis in a Negro child in the Belgian Congo].Annales de la Societe belge de medecine tropicale (1920) · 1950
Manually curated
Association Review

In brief

The association between SPTB (Spectrin Beta, Erythrocytic) and Hereditary Elliptocytosis 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 0
Symptoms 23
Compounds 0
Trials 0
Publications 11
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
SPTB

The gene

1 source summary

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

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04
Hereditary Elliptocytosis

The disorder

9 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

23 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
Literature

Reading

11 publications

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

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08
Provenance

References & sources

13 references

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

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