Genopathy
Gene-Disorder Association · Article
Gene
SRPRA
SRP Receptor Subunit Alpha
Disorder
Congenital Smooth Muscle Hamartoma, With Or Without Hemihypertrophy
First reported 1971
Key publication · disorder [Chorionic somato-mammotropic hormone (CSMH) (review of the literature)].Akusherstvo i ginekologiia · 1971
Manually curated
Association Review

In brief

The association between SRPRA (SRP Receptor Subunit Alpha) and Congenital Smooth Muscle Hamartoma, With Or Without Hemihypertrophy is reported, with clinical genetic testing available.

Sources 1
Clinical variants 0
Symptoms 8
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
SRPRA

The gene

1 source summary

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

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04
Congenital Smooth Muscle Hamartoma, With Or Without Hemihypertrophy

The disorder

5 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

3 clinical features

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

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06
Provenance

References & sources

4 references

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

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