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 dominant nonsyndromic hearing loss 66 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

autosomal dominant nonsyndromic hearing loss 66

MONDO:0014854

Also known as:CD164 autosomal dominant nonsyndromic deafnessDFNA66autosomal dominant deafness 66

Overview

Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the CD164 gene.

GeneticsAutosomal dominant · CD164 (chr 6)

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). 2 total HPO annotations.

Organ System	Phenotype Count	Example Features
Ears	2	Abnormal vestibular function, 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.

CD164 encodes CD164 molecule (197 aa). Sialomucin that may play a key role in hematopoiesis by facilitating the adhesion of CD34(+) cells to the stroma and by negatively regulating CD34(+)CD38(lo/-) cell proliferation. Highest expression in Cells Cultured fibroblasts (306.0 TPM) and Cells EBV-transformed lymphocytes (258.9 TPM).

Autosomal dominant nonsyndromic hearing loss 66 is associated with mutations in the CD164 gene on chromosome 6.

CD164 is classified as a druggable target (Druggable Genome category) with score 0.0.

Diagnosis

Genetic testing for CD164 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 1 always present 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 autosomal dominant nonsyndromic hearing loss 66.

1 publication has been identified in PubMed for autosomal dominant nonsyndromic hearing loss 66. Research spans Basic Science / Preclinical (100%).

Recent Publications

Zhang Y (2025). [PMID: 41015553](https://pubmed.ncbi.nlm.nih.gov/41015553/). *Zhong Nan Da Xue Xue Bao Yi Xue Ban*. [Basic Science / Preclinical]

Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 11:11 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:616969

GARD

Genetic and Rare Diseases Info Center

GARD:18146

Questions for Your Care Team

→Should I pursue genetic testing for CD164, 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?

← Back to All Diseases

autosomal dominant nonsyndromic hearing loss 66

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team