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ectodermal dysplasia 4, hair/nail type - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

ectodermal dysplasia 4, hair/nail type

MONDO:0011177

Also known as:KRT85 pure hair and nail ectodermal dysplasiapure hair and nail ectodermal dysplasia caused by mutation in KRT85ECTD4

Overview

Any pure hair and nail ectodermal dysplasia in which the cause of the disease is a mutation in the KRT85 gene.

GeneticsAutosomal recessive · KRT85 (chr 12)

OnsetCONGENITAL

ResearchLimited published research (1 article)

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: Absent eyebrow, Absent eyelashes, Alopecia, and Sparse body hair and others. 14 total HPO annotations.

Organ System	Phenotype Count	Example Features
Skin	3	Alopecia, Nail dystrophy, Palmoplantar hyperkeratosis

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.

KRT85 encodes keratin 85 (507 aa). Highest expression in Testis (1.9 TPM) and Skin Not Sun Exposed Suprapubic (0.2 TPM).

Ectodermal dysplasia 4, hair/nail type is associated with mutations in the KRT85 gene on chromosome 12.

KRT85 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for KRT85 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 6 always present features.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for ectodermal dysplasia 4, hair/nail type.

1 publication has been identified in PubMed for ectodermal dysplasia 4, hair/nail type. Research spans Epidemiology / Natural History (100%).

Recent Publications

Kovalskaia VA (2026). [PMID: 41645317](https://pubmed.ncbi.nlm.nih.gov/41645317/). *Orphanet J Rare Dis*. [Epidemiology / Natural History]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 5:32 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:602032

GARD

Genetic and Rare Diseases Info Center

GARD:18062

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→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 4, hair/nail type

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

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Questions for Your Care Team

Questions for Your Care Team

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