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 42 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

autosomal recessive nonsyndromic hearing loss 42

MONDO:0012326

Also known as:DFNB42ILDR1 autosomal recessive nonsyndromic deafnessautosomal recessive deafness 42

Overview

Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the ILDR1 gene.

GeneticsAutosomal recessive · ILDR1 (chr 3)

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.

ILDR1 encodes immunoglobulin like domain containing receptor 1 (546 aa). Maintains epithelial barrier function by recruiting MARVELD2/tricellulin to tricellular tight junctions (tTJs). Highest expression in Cells EBV-transformed lymphocytes (12.5 TPM) and Minor Salivary Gland (7.6 TPM).

Autosomal recessive nonsyndromic hearing loss 42 is associated with mutations in the ILDR1 gene on chromosome 3.

ILDR1 is classified as a druggable target with score 0.0.

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 ILDR1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for autosomal recessive nonsyndromic hearing loss 42 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 42.

10 publications have been identified in PubMed for autosomal recessive nonsyndromic hearing loss 42. Research spans Diagnostic / Biomarker (40%), Review / Meta-Analysis (20%), and Basic Science / Preclinical (20%).

Research Type	Count	% of Total
Testing and diagnosis research	4	40%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 8:42 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:609646

GARD

Genetic and Rare Diseases Info Center

GARD:22614

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 42

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