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hearing loss, X-linked 4 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hearing loss, X-linked 4

MONDO:0010238

Also known as:SMPX X-linked nonsyndromic deafnessX-linked nonsyndromic deafness caused by mutation in SMPXdeafness, X-linked 4

Overview

Any X-linked nonsyndromic deafness in which the cause of the disease is a mutation in the SMPX gene.

GeneticsX-linked · SMPX (chr X)

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: High-frequency hearing impairment and Inner ear hearing loss (sensorineural hearing impairment).

Organ System	Phenotype Count	Example Features
Ears	2	High-frequency hearing impairment, Inner ear hearing loss (sensorineural hearing impairment)

Explore clinical features

Genetic Landscape

SMPX function has not been fully characterized.

Hearing loss, X-linked 4 is associated with mutations in the SMPX gene on chromosome X.

Diagnosis

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

Biomarker and diagnostic research for hearing loss, X-linked 4 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 hearing loss, X-linked 4.

41 publications have been identified in PubMed for hearing loss, X-linked 4. Research spans Epidemiology / Natural History (25%), Case Report / Case Series (23%), and Review / Meta-Analysis (20%).

Research Type	Count	% of Total
Disease patterns and progression	10	25%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 3:01 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:300066

GARD

Genetic and Rare Diseases Info Center

GARD:18096

Questions for Your Care Team

→Should female family members consider carrier screening for SMPX?
→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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hearing loss, X-linked 4

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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