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epidermolytic hyperkeratosis 1 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

epidermolytic hyperkeratosis 1

MONDO:0700249

Overview

GeneticsAutosomal recessive, Autosomal dominant · KRT1 (chr 12)

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: Abnormal blistering of the skin, Scaling skin, Congenital bullous ichthyosiform erythroderma, and Epidermal acanthosis and 2 more.

Organ System	Phenotype Count	Example Features
Skin	4	Abnormal blistering of the skin, Scaling skin, Congenital bullous ichthyosiform erythroderma

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.

KRT1 encodes keratin 1 (644 aa). May regulate the activity of kinases such as PKC and SRC via binding to integrin beta-1 (ITB1) and the receptor of activated protein C kinase 1 (RACK1). Highest expression in Skin Not Sun Exposed Suprapubic (15,626 TPM) and Skin Sun Exposed Lower leg (14,326 TPM).

Epidermolytic hyperkeratosis 1 is associated with mutations in the KRT1 gene on chromosome 12.

KRT1 is classified as a druggable target (Kinase category) with score 0.0.

Diagnosis

Genetic testing for KRT1 is available. Testing is considered confirmatory for diagnosis.

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 epidermolytic hyperkeratosis 1.

13 publications have been identified in PubMed for epidermolytic hyperkeratosis 1. Research spans Case Report / Case Series (46%), Review / Meta-Analysis (15%), and Basic Science / Preclinical (15%).

Research Type	Count	% of Total
Patient case studies	6	46%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 12:56 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:113800

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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Kisho

epidermolytic hyperkeratosis 1

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

epidermolytic hyperkeratosis 1

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications