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ectodermal dysplasia 7, hair/nail type - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

ectodermal dysplasia 7, hair/nail type

MONDO:0013975

Also known as:KRT74 pure hair and nail ectodermal dysplasiapure hair and nail ectodermal dysplasia caused by mutation in KRT74ECTD7

Overview

Any pure hair and nail ectodermal dysplasia in which the cause of the disease is a mutation in the KRT74 gene.

GeneticsAutosomal recessive · KRT74 (chr 12)

ResearchLimited published research (2 articles)

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, Sparse eyebrow, Dystrophic fingernails, and Onycholysis and others. 11 total HPO annotations.

Organ System	Phenotype Count	Example Features
Skin	2	Alopecia, Abnormality of the skin
Arms and legs

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.

KRT74 encodes keratin 74 (529 aa). Has a role in hair formation. Specific component of keratin intermediate filaments in the inner root sheath (IRS) of the hair follicle (Probable) Highest expression in Testis (1.7 TPM) and Skin Sun Exposed Lower leg (1.3 TPM).

Ectodermal dysplasia 7, hair/nail type is associated with mutations in the KRT74 gene on chromosome 12.

KRT74 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for KRT74 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for ectodermal dysplasia 7, hair/nail type has been reported in the published literature.

Prognosis

Phenotype severity distribution: 7 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 7, hair/nail type.

2 publications have been identified in PubMed for ectodermal dysplasia 7, hair/nail type. Research spans Diagnostic / Biomarker (50%) and Epidemiology / Natural History (50%).

Recent Publications

Kovalskaia VA (2026). [PMID: 41645317](https://pubmed.ncbi.nlm.nih.gov/41645317/). *Orphanet journal of rare diseases*. [Epidemiology / Natural History]
So N (2025). [PMID: 39992008](https://pubmed.ncbi.nlm.nih.gov/39992008/). *The Australasian journal of dermatology*. [Diagnostic / Biomarker]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 7:52 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:614929

GARD

Genetic and Rare Diseases Info Center

GARD:18065

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 7, 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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