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hypotrichosis 5 (HYPT5) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hypotrichosis 5

MONDO:0013017

Also known as:HYPT5MUHH2Marie Unna hereditary hypotrichosis 2

Overview

A hypotrichosis that has material basis in a mutation on chromosome 1p21.1-q21.3.

GeneticsAutosomal dominant · EPS8L3 (chr 1)

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: Abnormality of the dentition, Absent axillary hair, Abnormal nail morphology, and Hearing abnormality and 5 more.

Organ System	Phenotype Count	Example Features
Skin	2	Abnormal nail morphology, Alopecia
Ears

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.

EPS8L3 encodes EPS8 signaling adaptor L3 (593 aa). Highest expression in Small Intestine Terminal Ileum (113.5 TPM) and Colon Transverse (97.6 TPM).

Hypotrichosis 5 is associated with mutations in the EPS8L3 gene on chromosome 1.

EPS8L3 is classified as a druggable target (Kinase category) with score 0.0.

Diagnosis

Genetic testing for EPS8L3 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for hypotrichosis 5 has been reported in the published literature.

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 5.

218 publications have been identified in PubMed for hypotrichosis 5. Kisho has analyzed 113 by research type. Research spans Review / Meta-Analysis (42%), Clinical Trial Publication (25%), and Epidemiology / Natural History (19%).

Research Type	Count	% of Total
Research summaries	47	42%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 11:11 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:612841

GARD

Genetic and Rare Diseases Info Center

GARD:15585

Questions for Your Care Team

→Should I pursue genetic testing for EPS8L3, 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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Kisho

hypotrichosis 5

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

hypotrichosis 5

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications