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hearing loss, autosomal dominant 77 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hearing loss, autosomal dominant 77

MONDO:0030058

Also known as:DFNA77deafness, autosomal dominant 77

Overview

GeneticsAutosomal dominant · ABCC1 (chr 16)

OnsetADULT

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). 3 total HPO annotations.

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

Age of onset: adulthood.

Explore clinical features

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.

ABCC1 encodes ATP binding cassette subfamily C member 1 (ABCC1 blood group) (1,531 aa). Mediates export of organic anions and drugs from the cytoplasm. Highest expression in Esophagus Muscularis (61.9 TPM) and Artery Aorta (59.0 TPM).

Hearing loss, autosomal dominant 77 is associated with mutations in the ABCC1 gene on chromosome 16.

The ABCC1 protein participates in LTC4 is exported from the cytosol by ABCC1, NFE2L2 dependent ABCC1 expression, and ABCC1 transports cytosolic RCbl to extracellular region pathways.

ABCC1 is classified as a druggable target (Abc Transporter, Druggable Genome, and Transporter categories) with score 1.7.

15 pathogenic variants reported in ABCC1 in ClinVar.

Diagnosis

Genetic testing for ABCC1 is available. Testing is considered confirmatory for diagnosis.

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 77.

4 publications have been identified in PubMed for hearing loss, autosomal dominant 77. Kisho has analyzed 3 by research type. Research spans Review / Meta-Analysis (67%) and Case Report / Case Series (33%).

Recent Publications

Balunathan N (2025). [PMID: 40226262](https://pubmed.ncbi.nlm.nih.gov/40226262/). *Indian J Otolaryngol Head Neck Surg*. [Review / Meta-Analysis]
Fábrega-Torrano M (2025). [PMID: 40727136](https://pubmed.ncbi.nlm.nih.gov/40727136/). *Indian J Otolaryngol Head Neck Surg*. [Case Report / Case Series]
Hail NA (2025). [PMID: 41174987](https://pubmed.ncbi.nlm.nih.gov/41174987/). *Ear Nose Throat J*. [Review / Meta-Analysis]

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 11:55 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618915

GARD

Genetic and Rare Diseases Info Center

GARD:18155

Questions for Your Care Team

→Should I pursue genetic testing for ABCC1, 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 77

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