Genopathy
Gene-Disorder Association · Article
Gene
SPTA1
Spectrin Alpha, Erythrocytic 1
Disorder
Hyperpigmentation, Familial Progressive, 1
First reported 2001
Key publication · disorder Recognition of nine base pairs in the minor groove of DNA by a tripyrrole peptide-Hoechst conjugate.Journal of the American Chemical Society · 2001
Manually curated
Association Review

In brief

The association between SPTA1 (Spectrin Alpha, Erythrocytic 1) and Hyperpigmentation, Familial Progressive, 1 is a manually-curated gene–disease association, supported by a single expert-curated source.

Sources 1
Clinical variants 0
Symptoms 1
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
SPTA1

The gene

1 source summary

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

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04
Hyperpigmentation, Familial Progressive, 1

The disorder

4 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

1 clinical feature

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

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06
Provenance

References & sources

3 references

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

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