Genopathy
Gene-Disorder Association · Article
Gene
RANBP2
RAN Binding Protein 2
Disorder
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia Syndrome
First reported 2005
Supporting publications 31
Key publication · gene–disorder Novel mutations in the EDAR gene in two Pakistani consanguineous families with autosomal recessive hypohidrotic ectodermal dysplasia.The British journal of dermatology · 2005
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 RANBP2 (RAN Binding Protein 2) and Autosomal Recessive Hypohidrotic Ectodermal Dysplasia Syndrome is well established and manually curated, drawing on a single expert-curated source, which records pathogenic and likely-pathogenic variants.

Sources 1
Clinical variants 178
Symptoms 11
Compounds 0
Trials 0
Publications 31
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
RANBP2

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

178 clinical variants

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

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07
Literature

Reading

31 publications

Publications linking the gene and the disorder, with title, authors, journal, year and citation metrics.

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08
Provenance

References & sources

13 references

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

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