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ectodermal dysplasia 15, hypohidrotic/hair type - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

ectodermal dysplasia 15, hypohidrotic/hair type

MONDO:0032804

Also known as:ECTD15

Overview

GeneticsAutosomal recessive · CST6 (chr 11)

OnsetCONGENITAL, CHILDHOOD

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: Sparse body hair, Sparse hair, Dry skin, and Photophobia and others; and common findings: Pruritus. 12 total HPO annotations.

Organ System	Phenotype Count	Example Features
Skin	5	Dry skin, Eczematoid dermatitis, Pruritus

Age of onset: at birth, childhood.

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.

CST6 encodes cystatin E/M (149 aa). High affinity inhibitor for cathepsin L, cathepsin L2 (cathepsin V), and legumain. Involved in the regulation of epidermal cornification, and hair follicle morphogenesis and maintenance Highest expression in Skin Not Sun Exposed Suprapubic (706.2 TPM) and Skin Sun Exposed Lower leg (508.5 TPM).

Ectodermal dysplasia 15, hypohidrotic/hair type is associated with mutations in the CST6 gene on chromosome 11.

CST6 is classified as a druggable target (Druggable Genome and Protease Inhibitor categories) with score 0.0.

Diagnosis

Genetic testing for CST6 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 10 always present features, 1 common feature.

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 15, hypohidrotic/hair type.

1 publication has been identified in PubMed for ectodermal dysplasia 15, hypohidrotic/hair type. Research spans Review / Meta-Analysis (100%).

Recent Publications

Dev A (2024). [PMID: 38845644](https://pubmed.ncbi.nlm.nih.gov/38845644/). *Indian Dermatol Online J*. [Review / Meta-Analysis]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 7:30 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618535

GARD

Genetic and Rare Diseases Info Center

GARD:16361

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 15, hypohidrotic/hair 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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