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hearing loss, autosomal dominant 87 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hearing loss, autosomal dominant 87

MONDO:0859525

Overview

GeneticsAutosomal dominant · PI4KB (chr 1)

ResearchLimited published research (6 articles)

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: Incomplete partition of the cochlea type II, Hearing loss (hearing impairment), and Enlarged vestibular aqueduct.

Organ System	Phenotype Count	Example Features
Ears	3	Incomplete partition of the cochlea type II, Hearing loss (hearing impairment), Enlarged vestibular aqueduct

Explore clinical features

Genetic Landscape

PI4KB function has not been fully characterized.

Hearing loss, autosomal dominant 87 is associated with mutations in the PI4KB gene on chromosome 1.

Diagnosis

Genetic testing for PI4KB is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 3 always present features.

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 dominant 87.

6 publications have been identified in PubMed for hearing loss, autosomal dominant 87. Research spans Basic Science / Preclinical (33%), Epidemiology / Natural History (33%), and Review / Meta-Analysis (17%).

Recent Publications

Feng Q (2025). [PMID: 39542281](https://pubmed.ncbi.nlm.nih.gov/39542281/). *Gene*. [Basic Science / Preclinical]
Unknown (2025). [PMID: 40263647](https://pubmed.ncbi.nlm.nih.gov/40263647/). *Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery*. [Review / Meta-Analysis]
Pan S (2025). [PMID: 39505798](https://pubmed.ncbi.nlm.nih.gov/39505798/). *Endocrine*. [Case Report / Case Series]
Lopez-de la Rosa A (2024). [PMID: 38872169](https://pubmed.ncbi.nlm.nih.gov/38872169/). *Orphanet journal of rare diseases*. [Epidemiology / Natural History]
Zhang X (2024). [PMID: 37962101](https://pubmed.ncbi.nlm.nih.gov/37962101/). *The Laryngoscope*. [Epidemiology / Natural History]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 6:46 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:620281

Questions for Your Care Team

→Should I pursue genetic testing for PI4KB, and what would the results mean for my family?
→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 dominant 87

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team