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autosomal recessive nonsyndromic hearing loss 7 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

autosomal recessive nonsyndromic hearing loss 7

MONDO:0010967

Also known as:DFNB11DFNB7TMC1 autosomal recessive nonsyndromic deafness

Overview

Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the TMC1 gene.

GeneticsAutosomal recessive · TMC1 (chr 9)

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: Abnormal vestibular function and Inner ear hearing loss (sensorineural hearing impairment).

Organ System	Phenotype Count	Example Features
Ears	2	Abnormal vestibular function, Inner ear hearing loss (sensorineural hearing impairment)

Explore clinical features

Genetic Landscape

TMC1 function has not been fully characterized.

Autosomal recessive nonsyndromic hearing loss 7 is caused by mutations in the TMC1 gene on chromosome 9.

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

Genetic testing for TMC1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for autosomal recessive nonsyndromic hearing loss 7 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 autosomal recessive nonsyndromic hearing loss 7.

40 publications have been identified in PubMed for autosomal recessive nonsyndromic hearing loss 7. Research spans Basic Science / Preclinical (28%), Epidemiology / Natural History (25%), and Gene Therapy / Novel Therapeutics (18%).

Research Type	Count	% of Total
Laboratory research	11	28%

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 9:41 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:600974

GARD

Genetic and Rare Diseases Info Center

GARD:22587

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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autosomal recessive nonsyndromic hearing loss 7

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

GARD

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Questions for Your Care Team

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