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autosomal recessive nonsyndromic hearing loss 44 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

autosomal recessive nonsyndromic hearing loss 44

MONDO:0012421

Also known as:ADCY1 autosomal recessive nonsyndromic deafnessDFNB44autosomal recessive deafness 44

Overview

Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the ADCY1 gene.

GeneticsAutosomal recessive · ADCY1 (chr 7)

ResearchLimited published research (6 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.

ADCY1 encodes adenylate cyclase 1 (1,119 aa). Catalyzes the formation of the signaling molecule cAMP in response to G-protein signaling. Mediates responses to increased cellular Ca(2+)/calmodulin levels. Highest expression in Brain Cerebellar Hemisphere (67.2 TPM) and Brain Cerebellum (58.9 TPM).

Autosomal recessive nonsyndromic hearing loss 44 is associated with mutations in the ADCY1 gene on chromosome 7.

The ADCY1 protein participates in Calmodulin-activated adenylate cyclases ADCY1 and ADCY8 generate cAMP pathway.

ADCY1 is classified as a druggable target (Druggable Genome and Enzyme categories) with score 8.7.

2 pathogenic variants reported in ADCY1 in ClinVar.

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 ADCY1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for autosomal recessive nonsyndromic hearing loss 44 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 44.

6 publications have been identified in PubMed for autosomal recessive nonsyndromic hearing loss 44. Research spans Case Report / Case Series (33%), Basic Science / Preclinical (33%), and Diagnostic / Biomarker (17%).

Recent Publications

Koizumi H (2026). [PMID: 41898848](https://pubmed.ncbi.nlm.nih.gov/41898848/). *Genes (Basel)*. [Case Report / Case Series]
Arai Y (2025). [PMID: 39858607](https://pubmed.ncbi.nlm.nih.gov/39858607/). *Genes (Basel)*. [Epidemiology / Natural History]
Bauwens M (2025). [PMID: 39199020](https://pubmed.ncbi.nlm.nih.gov/39199020/). *Clin Genet*. [Basic Science / Preclinical]
Bastille I (2025). [PMID: 40482032](https://pubmed.ncbi.nlm.nih.gov/40482032/). *Cell Rep*. [Basic Science / Preclinical]
Qatza A (2025). [PMID: 41233290](https://pubmed.ncbi.nlm.nih.gov/41233290/). *J Int Med Res*. [Case Report / Case Series]

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 11:58 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:610154

GARD

Genetic and Rare Diseases Info Center

GARD:22620

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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autosomal recessive nonsyndromic hearing loss 44

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

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Questions for Your Care Team

Questions for Your Care Team