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
Dominant deafness-onychodystrophy (DDOD) syndrome is a multiple congenital anomalies syndrome characterized by congenital hearing impairment, small or absent nails on the hands and feet, and small terminal phalanges.
Features include always present findings: Small nail, Bilateral sensorineural hearing impairment, Absent middle phalanx of 5th finger, and Inner ear hearing loss (sensorineural hearing impairment) and others; and very common findings: Absent fingernail and Severe sensorineural hearing impairment. 31 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Arms and legs | 6 | Toe syndactyly, Absent fifth fingernail, Absent middle phalanx of 5th finger |
Skin | 3 | Small nail, Nail dystrophy, Aplasia/Hypoplasia of the nails |
Ears | 3 | Bilateral sensorineural hearing impairment, Inner ear hearing loss (sensorineural hearing impairment), Severe sensorineural hearing impairment |
Brain and nerves | 3 | Intellectual disability, Seizure, Poor speech |
Head and neck | 1 | Abnormal facial shape |
ATP6V1B2 encodes ATPase H+ transporting V1 subunit B2 (511 aa). Non-catalytic subunit of the V1 complex of vacuolar(H+)-ATPase (V-ATPase), a multisubunit enzyme composed of a peripheral complex (V1) that hydrolyzes ATP and a membrane integral complex (V0) that translocates protons. Highest expression in Brain Frontal Cortex BA9 (247.0 TPM) and Brain Cerebellar Hemisphere (204.3 TPM).
Autosomal dominant deafness - onychodystrophy syndrome is associated with mutations in the ATP6V1B2 gene on chromosome 8.
The ATP6V1B2 protein participates in MITF-M-dependent ATP6V1B2 gene expression pathway.
ATP6V1B2 is classified as a druggable target (Enzyme and Transporter categories) with score 5.8.
Genetic testing for ATP6V1B2 is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 6 always present features, 2 very common features, 5 common features.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for autosomal dominant deafness - onychodystrophy syndrome.
7 publications have been identified in PubMed for autosomal dominant deafness - onychodystrophy syndrome. Research spans Case Report / Case Series (50%), Review / Meta-Analysis (17%), and Clinical Trial Publication (17%).
Feng Z (2026). [PMID: 41995948](https://pubmed.ncbi.nlm.nih.gov/41995948/). *Appl Biochem Biotechnol*. [Basic Science / Preclinical]
Yuan YY (2025). [PMID: 40010783](https://pubmed.ncbi.nlm.nih.gov/40010783/). *Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi*. [Clinical Trial Publication]
Kao WT (2025). [PMID: 40164508](https://pubmed.ncbi.nlm.nih.gov/40164508/). *J Am Acad Audiol*. [Case Report / Case Series]
Luo DL (2025). [PMID: 41777697](https://pubmed.ncbi.nlm.nih.gov/41777697/). *Front Pediatr*. [Case Report / Case Series]
Perez SM (2025). [PMID: 39982357](https://pubmed.ncbi.nlm.nih.gov/39982357/). *J Dev Biol*. [Review / Meta-Analysis]
Carpentieri G (2024). [PMID: 39210597](https://pubmed.ncbi.nlm.nih.gov/39210597/). *HGG Adv*. [Case Report / Case Series]
Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 6:52 PM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center