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hearing loss, autosomal recessive 121 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hearing loss, autosomal recessive 121

MONDO:0957825

Also known as:deafness, autosomal recessive 121

Overview

GeneticsAutosomal recessive · GPR156 (chr 3)

ResearchLimited published research (1 article)

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: Myopia. 3 total HPO annotations.

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

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.

GPR156 encodes G protein-coupled receptor 156 (814 aa). Orphan G-protein coupled receptor involved in the regulation of hair cell orientation in mechanosensory organs of the inner ear. Highest expression in Testis (6.8 TPM) and Fallopian Tube (1.4 TPM).

Hearing loss, autosomal recessive 121 is associated with mutations in the GPR156 gene on chromosome 3.

GPR156 is classified as a druggable target (Druggable Genome and G Protein Coupled Receptor categories) with score 0.0.

Diagnosis

Genetic testing for GPR156 is available. Testing is considered confirmatory for diagnosis.

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 hearing loss, autosomal recessive 121.

1 publication has been identified in PubMed for hearing loss, autosomal recessive 121. Research spans Basic Science / Preclinical (100%).

Recent Publications

Chouery E (2025). [PMID: 39414923](https://pubmed.ncbi.nlm.nih.gov/39414923/). *Eur J Hum Genet*. [Basic Science / Preclinical]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 11:22 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:620551

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 121

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

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Questions for Your Care Team

Questions for Your Care Team

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