RARE DISEASERESEARCH ATLAS
Open navigation menu

ORPHA:79499

Autosomal dominant deafness-onychodystrophy syndrome

low confidenceDisorder

Also known as: Autosomal dominant hearing loss-onychodystrophy syndrome · DDOD syndrome

Publications

2,480

Trials

0

Interventional, condition-specific

Researchers

1,253

Distinct authors in sample

Gene link

ATP6V1B2

Strong

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A rare multiple anomalies syndrome characterized by hearing impairment, small or absent nails on the hands and feet, and small or absent terminal phalanges.

How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (2)

autosomal dominant deafness-onychodystrophy syndrome · deafness-onychodystrophy syndrome, autosomal dominant

Research stages

Trial readiness signals

Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”

4/6 stages with a signal

No matched interventional trial, but a gene association and an animal model are on record — often described as translation-ready / stalled at the clinical step.

  1. Gene identifiedPresent

    Strong — ATP6V1B2

  2. LiteraturePresent

    2,480 matched papers (1,555 in last 10 years) Source

  3. Phenotype characterisedPresent

    37 HPO annotations (e.g. Toe syndactyly; Absent fifth fingernail; Absent thumbnail) Source

  4. Animal modelPresent

    2 genotype models (Mus musculus) Source

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. Interventional trialNot found

    No matched interventional trial under our ClinicalTrials.gov rules

Biology

Genes and phenotypes

Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.

Do we know what causes it?

Yes — we know a specific gene responsible (ATP6V1B2).

GenCC classification: Strong.

Phenotypes (Monarch / HPO)

37

Associated phenotypes · MONDO:0007420

  • Toe syndactyly
  • Absent fifth fingernail
  • Absent thumbnail
  • Bilateral triphalangeal thumbs
  • Triphalangeal thumb

Showing 5 of 37 — open Monarch for the full list.

Animal models (Monarch / Alliance)

2

Model associations linked to this Mondo ID

Monarch fetch 2026-07-29

Therapies

Designations, candidates, and chemicals

FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.

Orphan designation (FDA · EMA)

No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.

Open Targets candidates

No drugs or clinical candidates returned for this Mondo ID on Open Targets.

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

2,480

2,480 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

2,480 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).

1,555 in the last 10 years · low confidence

Phrase hits: 1,337 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,253

Distinct author names in 200 sampled papers — named people below.

Who's working on it?

No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.

  1. 01
    Dai P9 papers · 2026

    Department of Otolaryngology, Head and Neck Surgery, Institute of Otolaryngology, Genetic Testing Center for Deafness, Chinese PLA General Hospital; National Clinical Research Center for Otolaryngologic Diseases; Key Lab of Hearing Impairment Science of Ministry of Education; Key Lab of Hearing Impairment Prevention and Treatment of Beijing, Beijing, China.

    Papers in Europe PMC
  2. 02
    Gao X8 papers · 2026

    Department of Otolaryngology, PLA Rocket Force Characteristic Medical Center, Beijing, China.

    Papers in Europe PMC
  3. 03
    Li X7 papers · 2026

    Department of Nuclear Medicine, Affiliated Hospital of Zunyi Medical University, Zunyi, China.

    Papers in Europe PMC
  4. 04
    Qiu S5 papers · 2026

    Department of Otolaryngology, Head and Neck Surgery, Institute of Otolaryngology, Genetic Testing Center for Deafness, Chinese PLA General Hospital; National Clinical Research Center for Otolaryngologic Diseases; Key Lab of Hearing Impairment Science of Ministry of Education; Key Lab of Hearing Impairment Prevention and Treatment of Beijing, Beijing, China.

    Papers in Europe PMC
  5. 05
    Yuan Y5 papers · 2026

    Department of Otolaryngology, Head and Neck Surgery, Institute of Otolaryngology, Genetic Testing Center for Deafness, Chinese PLA General Hospital; National Clinical Research Center for Otolaryngologic Diseases; Key Lab of Hearing Impairment Science of Ministry of Education; Key Lab of Hearing Impairment Prevention and Treatment of Beijing, Beijing, China.

    Papers in Europe PMC
  6. 06
    Zhao W5 papers · 2026

    Department of Otolaryngology, Head and Neck Surgery, Institute of Otolaryngology, Genetic Testing Center for Deafness, Chinese PLA General Hospital; National Clinical Research Center for Otolaryngologic Diseases; Key Lab of Hearing Impairment Science of Ministry of Education; Key Lab of Hearing Impairment Prevention and Treatment of Beijing, Beijing, China.

    Papers in Europe PMC
  7. 07
    Campeau PM4 papers · 2024

    CHU Sainte-Justine Research Centre, University of Montreal, Montreal, QC H3T 1C5, Canada.

    Papers in Europe PMC
  8. 08
    Gao B4 papers · 2025

    Department of Otolaryngology, Head and Neck Surgery, Institute of Otolaryngology, Genetic Testing Center for Deafness, Chinese PLA General Hospital; National Clinical Research Center for Otolaryngologic Diseases; Key Lab of Hearing Impairment Science of Ministry of Education; Key Lab of Hearing Impairment Prevention and Treatment of Beijing, Beijing, China.

    Papers in Europe PMC
  9. 09
    Li J4 papers · 2026

    Department of Gastroenterology, The Third Affiliated Hospital of Guangzhou Medical University, Guangzhou, China.

    Papers in Europe PMC
  10. 10
    Yuan YY4 papers · 2025

    College of Otolaryngology Head and Neck Surgery, Chinese PLA General Hospital, Chinese PLA Medical School, National Clinical Research Center for Otolaryngologic Diseases, State Key Lab of Hearing Science, Ministry of Education, Beijing Key Lab of Hearing Impairment Prevention and Treatment, 28 Fuxing Road, Beijing 100853, China. Electronic address: yyymzh@163.com.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

0

interventional trials for this specific condition

No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).

Data as of 11 September 2026 · last trial check 11 September 2026

No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.

low confidence · 38.6th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.

See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.

Other registries (secondary)

Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.

raw 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · dropped 0 · fetched 2026-07-30

Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri

No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).

Where to find support

Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.

Orphanet entry for Autosomal dominant deafness-onychodystrophy syndrome — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.

Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.

How we counted this

Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.

("Autosomal dominant deafness-onychodystrophy syndrome" OR "Autosomal dominant hearing loss-onychodystrophy syndrome" OR "DDOD syndrome" OR "deafness-onychodystrophy syndrome, autosomal dominant") OR ("ATP6V1B2" OR "ATP6V1B2 syndrome" OR "ATP6V1B2-related")

Run this search on Europe PMC

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Autosomal dominant deafness-onychodystrophy syndrome" OR "Autosomal dominant hearing loss-onychodystrophy syndrome" OR "DDOD syndrome" OR "deafness-onychodystrophy syndrome, autosomal dominant"

Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase; with hits: phrase

Run this search on ClinicalTrials.gov

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (2480) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T02:30:52.911Z