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hypotrichosis 11 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hypotrichosis 11

MONDO:0014027

Also known as:HYPT11SNRPE hypotrichosishypotrichosis caused by mutation in SNRPE

Overview

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

GeneticsAutosomal dominant · SNRPE (chr 1)

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: Sparse hair; and sometimes findings: Alopecia universalis. 5 total HPO annotations.

Organ System	Phenotype Count	Example Features
Skin	1	Alopecia universalis

Age of onset: at birth.

Explore clinical features

Genetic Landscape

SNRPE function has not been fully characterized.

Hypotrichosis 11 is associated with mutations in the SNRPE gene on chromosome 1.

Diagnosis

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

Biomarker and diagnostic research for hypotrichosis 11 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 1 always present 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 11.

158 publications have been identified in PubMed for hypotrichosis 11. Kisho has analyzed 102 by research type. Research spans Review / Meta-Analysis (37%), Clinical Trial Publication (22%), and Epidemiology / Natural History (20%).

Research Type	Count	% of Total
Research summaries	38	37%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 1:01 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:615059

GARD

Genetic and Rare Diseases Info Center

GARD:15900

Questions for Your Care Team

→Should I pursue genetic testing for SNRPE, 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 11

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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