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autosomal dominant nonsyndromic hearing loss 64 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

autosomal dominant nonsyndromic hearing loss 64

MONDO:0013593

Also known as:DFNA64DIABLO autosomal dominant nonsyndromic deafnessautosomal dominant deafness 64

Overview

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

GeneticsAutosomal dominant · DIABLO (chr 12)

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); and common findings: Tinnitus.

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

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.

DIABLO encodes diablo IAP-binding mitochondrial protein (239 aa). Promotes apoptosis by activating caspases in the cytochrome c/Apaf-1/caspase-9 pathway. Acts by opposing the inhibitory activity of inhibitor of apoptosis proteins (IAP). Highest expression in Testis (33.2 TPM) and Pituitary (18.1 TPM).

Autosomal dominant nonsyndromic hearing loss 64 is associated with mutations in the DIABLO gene on chromosome 12.

The DIABLO protein participates in Release of SMAC (DIABLO) from mitochondria and Dissociation of Caspase-7 from DIABLO:XIAP:Caspase-7 pathways.

DIABLO is classified as a druggable target with score 9.5.

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 DIABLO is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for autosomal dominant nonsyndromic hearing loss 64 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 1 always present feature, 1 common 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 64.

3 publications have been identified in PubMed for autosomal dominant nonsyndromic hearing loss 64. Research spans Case Report / Case Series (67%) and Diagnostic / Biomarker (33%).

Recent Publications

DeSollar B (2026). [PMID: 41979979](https://pubmed.ncbi.nlm.nih.gov/41979979/). *JMIR Bioinform Biotechnol*. [Diagnostic / Biomarker]
Bodard Q (2025). [PMID: 39939231](https://pubmed.ncbi.nlm.nih.gov/39939231/). *Rev Med Interne*. [Case Report / Case Series]
Sekiguchi R (2024). [PMID: 39388000](https://pubmed.ncbi.nlm.nih.gov/39388000/). *JA Clin Rep*. [Case Report / Case Series]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 2:16 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:614152

GARD

Genetic and Rare Diseases Info Center

GARD:18134

Questions for Your Care Team

→Should I pursue genetic testing for DIABLO, 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 64

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