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hearing loss, autosomal dominant 74 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hearing loss, autosomal dominant 74

MONDO:0029137

Also known as:DFNA74deafness, autosomal dominant 74

Overview

GeneticsAutosomal dominant · PDE1C (chr 7)

ResearchLimited published research (4 articles)

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: Inner ear hearing loss (sensorineural hearing impairment). 2 total HPO annotations.

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

Explore clinical features

Genetic Landscape

PDE1C function has not been fully characterized.

Hearing loss, autosomal dominant 74 is associated with mutations in the PDE1C gene on chromosome 7.

Diagnosis

Genetic testing for PDE1C is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for hearing loss, autosomal dominant 74 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 hearing loss, autosomal dominant 74.

4 publications have been identified in PubMed for hearing loss, autosomal dominant 74. Research spans Diagnostic / Biomarker (25%), Case Report / Case Series (25%), and Basic Science / Preclinical (25%).

Recent Publications

DeSollar B (2026). [PMID: 41979979](https://pubmed.ncbi.nlm.nih.gov/41979979/). *JMIR Bioinform Biotechnol*. [Diagnostic / Biomarker]
Wang H (2025). [PMID: 41107984](https://pubmed.ncbi.nlm.nih.gov/41107984/). *Orphanet J Rare Dis*. [Epidemiology / Natural History]
Lin Y (2025). [PMID: 41050055](https://pubmed.ncbi.nlm.nih.gov/41050055/). *Front Genet*. [Case Report / Case Series]
Liu J (2024). [PMID: 38870779](https://pubmed.ncbi.nlm.nih.gov/38870779/). *Redox Biol*. [Basic Science / Preclinical]

Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 8:10 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618140

GARD

Genetic and Rare Diseases Info Center

GARD:18151

Questions for Your Care Team

→Should I pursue genetic testing for PDE1C, 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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hearing loss, autosomal dominant 74

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team