Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

autosomal recessive nonsyndromic hearing loss 26 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

autosomal recessive nonsyndromic hearing loss 26

MONDO:0011553

Also known as:DFNB26autosomal recessive deafness 26autosomal recessive nonsyndromic deafness 26

Overview

An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 4q31.

GeneticsAutosomal recessive · GAB1 (chr 4)

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.

GAB1 encodes GRB2 associated binding protein 1 (694 aa). Adapter protein that plays a role in intracellular signaling cascades triggered by activated receptor-type kinases. Plays a role in FGFR1 signaling. Highest expression in Nerve Tibial (41.3 TPM) and Brain Spinal cord cervical c-1 (24.5 TPM).

Autosomal recessive nonsyndromic hearing loss 26 is associated with mutations in the GAB1 gene on chromosome 4.

The GAB1 protein participates in GAB1 signalosome, MET activates PI3K/AKT signaling, and MET activates RAP1 and RAC1 pathways.

GAB1 is classified as a druggable target (Kinase category) with score 52.2.

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 GAB1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for autosomal recessive nonsyndromic hearing loss 26 has been reported in the published literature.

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 recessive nonsyndromic hearing loss 26.

39 publications have been identified in PubMed for autosomal recessive nonsyndromic hearing loss 26. Research spans Case Report / Case Series (26%), Basic Science / Preclinical (21%), and Epidemiology / Natural History (21%).

Research Type	Count	% of Total
Patient case studies	10	26%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 5:22 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:605428

GARD

Genetic and Rare Diseases Info Center

GARD:22599

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?

← Back to All Diseases

autosomal recessive nonsyndromic hearing loss 26

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Recent Publications