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ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant

MONDO:0013982

Also known as:ECTD11Aectodermal dysplasia, hypohidrotic, autosomal dominant

Overview

GeneticsAutosomal dominant · EDARADD (chr 1)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Brittle hair, Hypodontia, Decreased sweating (hypohidrosis), and Sparse hair and others; and sometimes findings: Absent nipple. 11 total HPO annotations.

Organ System	Phenotype Count	Example Features
Skin	3	Anhidrosis, Dry skin, Decreased sweating (hypohidrosis)

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

EDARADD encodes EDAR associated via death domain (215 aa). Adapter protein that interacts with EDAR DEATH domain and couples the receptor to EDA signaling pathway during morphogenesis of ectodermal organs. Mediates the activation of NF-kappa-B Highest expression in Skin Not Sun Exposed Suprapubic (3.2 TPM) and Stomach (3.1 TPM).

Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant is associated with mutations in the EDARADD gene on chromosome 1.

EDARADD is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for EDARADD is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 5 always present features.

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 4:33 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:614940

GARD

Genetic and Rare Diseases Info Center

GARD:18592

Questions for Your Care Team

→Should I pursue genetic testing for EDARADD, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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