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hearing loss, autosomal dominant 80 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hearing loss, autosomal dominant 80

MONDO:0030998

Also known as:DFNA80deafness, autosomal dominant 80

Overview

GeneticsAutosomal dominant · GREB1L (chr 18)

ResearchLimited published research (9 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: Abnormal semicircular canal morphology, Cochlear aplasia, Dilated vestibule of the inner ear, and Congenital sensorineural hearing impairment. 5 total HPO annotations.

Organ System	Phenotype Count	Example Features
Ears	4	Cochlear aplasia, Dilated vestibule of the inner ear, Congenital sensorineural hearing impairment

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.

GREB1L encodes GREB1 like retinoic acid receptor coactivator (1,923 aa). Plays a major role in early metanephros and genital development Highest expression in Fallopian Tube (8.7 TPM) and Thyroid (7.4 TPM).

Hearing loss, autosomal dominant 80 is associated with mutations in the GREB1L gene on chromosome 18.

GREB1L is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for GREB1L is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for hearing loss, autosomal dominant 80 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 4 always present features.

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 80.

12 publications have been identified in PubMed for hearing loss, autosomal dominant 80. Kisho has analyzed 9 by research type. Research spans Review / Meta-Analysis (22%), Case Report / Case Series (22%), and Basic Science / Preclinical (22%).

Recent Publications

Moyaert J (2025). [PMID: 40088601](https://pubmed.ncbi.nlm.nih.gov/40088601/). *Hear Res*. [Epidemiology / Natural History]
Zafeer MF (2025). [PMID: 39786576](https://pubmed.ncbi.nlm.nih.gov/39786576/). *Hum Genet*. [Basic Science / Preclinical]
Milo Rasouly H (2025). [PMID: 40774958](https://pubmed.ncbi.nlm.nih.gov/40774958/). *Nat Commun*. [Basic Science / Preclinical]
Hua W (2025). [PMID: 40962492](https://pubmed.ncbi.nlm.nih.gov/40962492/). *J Med Genet*. [Case Report / Case Series]
Nayak Manel D (2025). [PMID: 40016832](https://pubmed.ncbi.nlm.nih.gov/40016832/). *J Med Case Rep*. [Review / Meta-Analysis]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 5:36 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:619274

GARD

Genetic and Rare Diseases Info Center

GARD:18158

Questions for Your Care Team

→Should I pursue genetic testing for GREB1L, 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 80

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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