Genopathy
Gene-Disorder Association · Article
Gene
EDARADD
EDAR Associated Via Death Domain
Disorder
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia Syndrome
First reported 1972
Key publication · disorder Autosomal recessive hypohidrotic ectodermal dysplasia: dental manifestations.Oral surgery, oral medicine, and oral pathology · 1972
Manually curated
Association Review

In brief

The association between EDARADD (EDAR Associated Via Death Domain) and Autosomal Recessive Hypohidrotic Ectodermal Dysplasia Syndrome is well established and manually curated, drawing on a single expert-curated source, which records a causative germline mutation.

Sources 1
Clinical variants 5
Symptoms 11
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
EDARADD

The gene

1 source summary

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

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04
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia Syndrome

The disorder

6 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

10 clinical features

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

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06
ClinVar and variant evidence

Genetic basis

5 clinical variants

ClinVar variants reported for this pair, with disorder-specific significance, review status, molecular consequence and origin.

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07
Mechanism overlap

Shared mechanisms

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

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08
Provenance

References & sources

5 references

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

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