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hearing loss, autosomal recessive 114 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hearing loss, autosomal recessive 114

MONDO:0032761

Also known as:DFNB114deafness, autosomal recessive 114

Overview

GeneticsAutosomal recessive · GRAP (chr 17)

ResearchLimited published research (1 article)

Clinical Presentation

Features include: Inner ear hearing loss (sensorineural hearing impairment).

Organ System	Phenotype Count	Example Features
Ears	1	Inner ear hearing loss (sensorineural hearing impairment)

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.

GRAP encodes GRB2 related adaptor protein (217 aa). Couples signals from receptor and cytoplasmic tyrosine kinases to the Ras signaling pathway. Plays a role in the inner ear and in hearing Highest expression in Cells EBV-transformed lymphocytes (14.9 TPM) and Spleen (13.8 TPM).

Hearing loss, autosomal recessive 114 is associated with mutations in the GRAP gene on chromosome 17.

The GRAP protein participates in active FLT3:GRAP2, Translocation of Vav1 to CD28, and Interaction of other adapter proteins with p-KIT pathways.

GRAP is classified as a druggable target (Kinase category) with score 0.0.

Diagnosis

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

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 recessive 114.

1 publication has been identified in PubMed for hearing loss, autosomal recessive 114. Research spans Epidemiology / Natural History (100%).

Recent Publications

Huang Y (2025). [PMID: 41466426](https://pubmed.ncbi.nlm.nih.gov/41466426/). *Orphanet journal of rare diseases*. [Epidemiology / Natural History]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 1:14 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618456

GARD

Genetic and Rare Diseases Info Center

GARD:22662

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→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 recessive 114

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team