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deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

deafness, autosomal dominant 39, with dentinogenesis imperfecta 1

MONDO:0011571

Also known as:deafness, autosomal dominant 39, with dentinogenesis imperfecta type 1deafness, autosomal dominant 39, with dentinogenesisDfna39/Dgi1 syndrome

Overview

GeneticsAutosomal dominant · DSPP (chr 4)

Clinical Presentation

Features include: Bilateral sensorineural hearing impairment, High-frequency hearing impairment, Tinnitus, and Dentinogenesis imperfecta.

Organ System	Phenotype Count	Example Features
Ears	3	Bilateral sensorineural hearing impairment, High-frequency hearing impairment, Tinnitus

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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.

DSPP encodes dentin sialophosphoprotein (1,301 aa). DSP may be an important factor in dentinogenesis. Highest expression in Testis (0.0 TPM) and Artery Aorta (0.0 TPM).

Deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 is associated with mutations in the DSPP gene on chromosome 4.

The DSPP protein participates in DSPP(463-1301):Integrin alphaVbeta1, Positive Regulation of CDH1 Gene Transcription, and Regulation of CDH1 Gene Transcription pathways.

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

Diagnosis

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

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 3:05 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:605594

GARD

Genetic and Rare Diseases Info Center

GARD:15383

Questions for Your Care Team

→Should I pursue genetic testing for DSPP, 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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deafness, autosomal dominant 39, with dentinogenesis imperfecta 1

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team