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hypotrichosis 4 (HYPT4) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hypotrichosis 4

MONDO:0100522

Also known as:HYPT4MUHH1Marie Unna hereditary hypotrichosis 1

Overview

GeneticsAutosomal dominant · HRURF (chr 8)

OnsetCONGENITAL

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: Uncombable hair and Sparse eyebrow; and common findings: Sparse body hair. 6 total HPO annotations.

Organ System	Phenotype Count	Example Features
Skin	1	Alopecia

Age of onset: at birth.

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.

HRURF encodes HR upstream open reading frame (34 aa). May function as an inhibitory translational control element that can negatively regulate protein translation of HR gene

Hypotrichosis 4 is associated with mutations in the HRURF gene on chromosome 8.

HRURF is classified as a druggable target with score 0.0.

Diagnosis

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

Biomarker and diagnostic research for hypotrichosis 4 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 2 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 hypotrichosis 4.

35 publications have been identified in PubMed for hypotrichosis 4. Research spans Epidemiology / Natural History (23%), Review / Meta-Analysis (20%), and Case Report / Case Series (14%).

Research Type	Count	% of Total
Disease patterns and progression	8	23%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 12:49 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:146550

GARD

Genetic and Rare Diseases Info Center

GARD:15078

Questions for Your Care Team

→Should I pursue genetic testing for HRURF, 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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hypotrichosis 4

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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