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autosomal dominant nonsyndromic hearing loss 44 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

autosomal dominant nonsyndromic hearing loss 44

MONDO:0011832

Also known as:CCDC50 autosomal dominant nonsyndromic deafnessDFNA44autosomal dominant deafness 44

Overview

Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the CCDC50 gene.

GeneticsAutosomal dominant · CCDC50 (chr 3)

OnsetJUVENILE

ResearchLimited published research (3 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). 4 total HPO annotations.

Organ System	Phenotype Count	Example Features
Ears	3	Abnormal vestibular function, Inner ear hearing loss (sensorineural hearing impairment), Tinnitus

Age of onset: adolescence.

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.

CCDC50 encodes coiled-coil domain containing 50 (306 aa). Involved in EGFR signaling Highest expression in Adipose Subcutaneous (57.1 TPM) and Artery Tibial (55.6 TPM).

Autosomal dominant nonsyndromic hearing loss 44 is associated with mutations in the CCDC50 gene on chromosome 3.

CCDC50 is classified as a druggable target with score 0.0.

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 CCDC50 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for autosomal dominant nonsyndromic hearing loss 44 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 autosomal dominant nonsyndromic hearing loss 44.

3 publications have been identified in PubMed for autosomal dominant nonsyndromic hearing loss 44. Research spans Case Report / Case Series (67%) and Diagnostic / Biomarker (33%).

Recent Publications

Koizumi H (2026). [PMID: 41898848](https://pubmed.ncbi.nlm.nih.gov/41898848/). *Genes*. [Case Report / Case Series]
Hoff FW (2026). [PMID: 41742372](https://pubmed.ncbi.nlm.nih.gov/41742372/). *The Journal of clinical endocrinology and metabolism*. [Case Report / Case Series]
Yu S (2024). [PMID: 39720982](https://pubmed.ncbi.nlm.nih.gov/39720982/). *Molecular genetics and genomics : MGG*. [Diagnostic / Biomarker]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 3:53 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:607453

GARD

Genetic and Rare Diseases Info Center

GARD:18118

Questions for Your Care Team

→Should I pursue genetic testing for CCDC50, 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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autosomal dominant nonsyndromic hearing loss 44

Overview

Clinical Presentation

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

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