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autosomal recessive nonsyndromic hearing loss 49 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

autosomal recessive nonsyndromic hearing loss 49

MONDO:0012420

Also known as:DFNB49MARVELD2 autosomal recessive nonsyndromic deafnessautosomal recessive deafness 49

Overview

An autosomal recessive disorder caused by mutations in the MARVELD2 gene, encoding MARVEL domain-containing protein 2. The condition is characterized by profound prelingual deafness.

GeneticsAutosomal recessive · MARVELD2 (chr 5)

ResearchLimited published research (7 articles)

Clinical Presentation

Features include: Prelingual sensorineural hearing impairment.

Organ System	Phenotype Count	Example Features
Ears	1	Prelingual 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.

MARVELD2 encodes MARVEL domain containing 2 (558 aa). Plays a role in the formation of tricellular tight junctions and of epithelial barriers.

Autosomal recessive nonsyndromic hearing loss 49 is associated with mutations in the MARVELD2 gene on chromosome 5.

MARVELD2 is classified as a druggable target (Transporter category) 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 MARVELD2 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for autosomal recessive nonsyndromic hearing loss 49 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 49.

7 publications have been identified in PubMed for autosomal recessive nonsyndromic hearing loss 49. Research spans Diagnostic / Biomarker (29%), Case Report / Case Series (29%), and Other (14%).

Recent Publications

Pshennikova VG (2026). [PMID: 40957967](https://pubmed.ncbi.nlm.nih.gov/40957967/). *J Hum Genet*. [Case Report / Case Series]
Balatková Z (2026). [PMID: 41884524](https://pubmed.ncbi.nlm.nih.gov/41884524/). *Otol Neurotol Open*. [Epidemiology / Natural History]
Riahi Z (2025). [PMID: 41359850](https://pubmed.ncbi.nlm.nih.gov/41359850/). *Proc Natl Acad Sci U S A*. [Review / Meta-Analysis]
Elander J (2025). [PMID: 40685639](https://pubmed.ncbi.nlm.nih.gov/40685639/). *J Otolaryngol Head Neck Surg*. [Diagnostic / Biomarker]
Rezaie N (2024). [PMID: 39614311](https://pubmed.ncbi.nlm.nih.gov/39614311/). *BMC Med Genomics*. [Case Report / Case Series]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 4:50 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:610153

GARD

Genetic and Rare Diseases Info Center

GARD:22619

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
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→Is there a patient registry I should consider joining?

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autosomal recessive nonsyndromic hearing loss 49

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