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ectodermal dysplasia 13, hair/tooth type - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

ectodermal dysplasia 13, hair/tooth type

MONDO:0044305

Also known as:ECTD13

Overview

GeneticsAutosomal recessive · KREMEN1 (chr 22)

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: Brittle hair and Oligodontia; and sometimes findings: Wide nasal bridge, Ectodermal dysplasia, Thick vermilion border, and Hypertelorism and others. 11 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	1	Depressed nasal bridge

Explore clinical features

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.

KREMEN1 encodes kringle containing transmembrane protein 1 (473 aa). Receptor for Dickkopf proteins. Cooperates with DKK1/2 to inhibit Wnt/beta-catenin signaling by promoting the endocytosis of Wnt receptors LRP5 and LRP6. Highest expression in Esophagus Mucosa (35.2 TPM) and Ovary (33.0 TPM).

Ectodermal dysplasia 13, hair/tooth type is associated with mutations in the KREMEN1 gene on chromosome 22.

The KREMEN1 protein participates in DKK and KRM bind LRP5/6 pathway.

KREMEN1 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for KREMEN1 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 2 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 13, hair/tooth type.

1 publication has been identified in PubMed for ectodermal dysplasia 13, hair/tooth type. Research spans Epidemiology / Natural History (100%).

Recent Publications

Su L (2024). [PMID: 39408781](https://pubmed.ncbi.nlm.nih.gov/39408781/). *International journal of molecular sciences*. [Epidemiology / Natural History]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 2:59 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:617392

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 13, hair/tooth type

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

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Questions for Your Care Team

Questions for Your Care Team