Genopathy
Gene-Disorder Association · Article
Gene
CYP2D6
Cytochrome P450 Family 2 Subfamily D Member 6 (Gene/Pseudogene)
Disorder
Episodic Pain Syndrome, Familial, 2
First reported 1987
Key publication · disorder [Muckle-Wells syndrome or association of joint pain attacks, urticarial outbreaks and sensory deafness?].Revue du rhumatisme et des maladies osteo-articulaires · 1987
Manually curated
Association Review

In brief

The association between CYP2D6 (Cytochrome P450 Family 2 Subfamily D Member 6 (Gene/Pseudogene)) and Episodic Pain Syndrome, Familial, 2 is reported, with clinical genetic testing available.

Sources 1
Clinical variants 0
Symptoms 6
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
CYP2D6

The gene

1 source summary

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

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04
Episodic Pain Syndrome, Familial, 2

The disorder

8 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

4 references

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

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