Genopathy
Gene-Disorder Association · Article
Gene
SLC27A5
Solute Carrier Family 27 Member 5
Disorder
D-Bifunctional Protein Deficiency
First reported 1982
Key publication · disorder Pharmacological studies on supersensitization. IX. Non-specific supersensitivity of vas deferens of guinea pig induced by tripelennamine, N,N-dimethyl-N',N'-dibenzylethylenediamine and N,N-dibenzyl-N',N'-dimethyl-1,2-propanediamine.Journal of pharmacobio-dynamics · 1982
Manually curated
Association Review

In brief

The association between SLC27A5 (Solute Carrier Family 27 Member 5) and D-Bifunctional Protein Deficiency is reported, with clinical genetic testing available.

Sources 1
Clinical variants 0
Symptoms 109
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
SLC27A5

The gene

1 source summary

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

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04
D-Bifunctional Protein Deficiency

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

60 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

1 shared pathway

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

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07
Provenance

References & sources

9 references

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

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