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hypotrichosis 6 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hypotrichosis 6

MONDO:0011932

Also known as:DSG4 hypotrichosisHYPT6LAH1

Overview

Any hypotrichosis in which the cause of the disease is a mutation in the DSG4 gene.

GeneticsAutosomal recessive · DSG4 (chr 18)

ResearchLimited published research (4 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, Pruritus, and Sparse hair; and common findings: Sparse eyelashes and Sparse eyebrow. 8 total HPO annotations.

Organ System	Phenotype Count	Example Features
Skin	3	Pruritus, Erythema, Follicular hyperkeratosis

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.

DSG4 encodes desmoglein 4 (1,040 aa). A component of desmosome cell-cell junctions which are required for positive regulation of cellular adhesion. Highest expression in Testis (0.6 TPM) and Esophagus Mucosa (0.5 TPM).

Hypotrichosis 6 is associated with mutations in the DSG4 gene on chromosome 18.

DSG4 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for DSG4 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 3 always present features, 2 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 hypotrichosis 6.

4 publications have been identified in PubMed for hypotrichosis 6. Research spans Review / Meta-Analysis (25%), Case Report / Case Series (25%), and Basic Science / Preclinical (25%).

Recent Publications

Shaheen EA (2025). [PMID: 39845463](https://pubmed.ncbi.nlm.nih.gov/39845463/). *JAAD Case Rep*. [Case Report / Case Series]
Xi L (2025). [PMID: 41096925](https://pubmed.ncbi.nlm.nih.gov/41096925/). *Int J Mol Sci*. [Review / Meta-Analysis]
Uribe NC (2025). [PMID: 40654548](https://pubmed.ncbi.nlm.nih.gov/40654548/). *Int J Trichology*. [Epidemiology / Natural History]
Wang X (2024). [PMID: 38771644](https://pubmed.ncbi.nlm.nih.gov/38771644/). *JCI Insight*. [Basic Science / Preclinical]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 1:00 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:607903

GARD

Genetic and Rare Diseases Info Center

GARD:15423

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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hypotrichosis 6

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team