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ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type

MONDO:0015024

Also known as:ECTD12KDF1 ectodermal dysplasia syndromeectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type; ECTD12

Overview

Any ectodermal dysplasia syndrome in which the cause of the disease is a mutation in the KDF1 gene.

GeneticsAutosomal dominant · KDF1 (chr 1)

ResearchLimited published research (6 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: Orthokeratosis, Acne inversa, Palmar hyperlinearity, and Concave nasal ridge and others; and very common findings: Keratosis pilaris and Nail dystrophy. 17 total HPO annotations.

Organ System	Phenotype Count	Example Features
Skin	5	Scarring alopecia of scalp, Subungual hyperkeratosis, Eczematoid dermatitis

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.

KDF1 encodes keratinocyte differentiation factor 1 (398 aa). Plays a role in the regulation of the epidermis formation during early development. Highest expression in Skin Not Sun Exposed Suprapubic (29.3 TPM) and Skin Sun Exposed Lower leg (28.7 TPM).

Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type is caused by mutations in the KDF1 gene on chromosome 1.

KDF1 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for KDF1 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 7 always present features, 2 very common features, 4 common 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 12, hypohidrotic/hair/tooth/nail type.

6 publications have been identified in PubMed for ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type. Research spans Review / Meta-Analysis (33%), Basic Science / Preclinical (33%), and Case Report / Case Series (17%).

Recent Publications

Kovalskaia VA (2026). [PMID: 41645317](https://pubmed.ncbi.nlm.nih.gov/41645317/). *Orphanet J Rare Dis*. [Epidemiology / Natural History]
Peng L (2026). [PMID: 42267391](https://pubmed.ncbi.nlm.nih.gov/42267391/). *J Dent Res*. [Basic Science / Preclinical]
Graham JM Jr (2025). [PMID: 40554824](https://pubmed.ncbi.nlm.nih.gov/40554824/). *Int Dent J*. [Basic Science / Preclinical]
Morandini AC (2025). [PMID: 40083426](https://pubmed.ncbi.nlm.nih.gov/40083426/). *Front Pediatr*. [Review / Meta-Analysis]
Keramida C (2025). [PMID: 40463401](https://pubmed.ncbi.nlm.nih.gov/40463401/). *Biomed Rep*. [Case Report / Case Series]

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 3:02 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:617337

GARD

Genetic and Rare Diseases Info Center

GARD:18593

Questions for Your Care Team

→Should I pursue genetic testing for KDF1, 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 12, hypohidrotic/hair/tooth/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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