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ORPHA:643538

Hao-Fountain syndrome due to USP7 mutation

low confidenceSubtype of disorder

Also known as: HAFOUS due to USP7 mutation

Publications

6,260

Trials

0

Interventional, condition-specific

Researchers

13

Distinct authors in sample

Gene link

USP7

Strong

Readiness

3/6

Stages with a signal

Orphanet entry

Cross-references

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

Additional Mondo synonyms (1)

USP7-related neurodevelopmental disorder

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.”

3/6 stages with a signal

No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.

  1. Gene identifiedPresent

    Strong — USP7

  2. LiteraturePresent

    6,260 matched papers (5,011 in last 10 years) Source

  3. Phenotype characterisedPresent

    24 HPO annotations (e.g. Abnormal facial shape; Strabismus; Apraxia) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  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 (USP7).

GenCC classification: Strong.

Phenotypes (Monarch / HPO)

24

Associated phenotypes · MONDO:0958071

  • Abnormal facial shape
  • Strabismus
  • Apraxia
  • Hypotonia
  • Generalized hypotonia

Showing 5 of 24 — open Monarch for the full list.

Animal models (Monarch / Alliance)

None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.

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?

6,260

6,260 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

6,260 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).

5,011 in the last 10 years · low confidence

Phrase hits: 3 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

13

Distinct author names in 3 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
    Huang J2 papers · 2022

    Department of Medical Genetics, Henan Provincial People's Hospital, People's Hospital of Zhengzhou University, People's Hospital of Henan University, Zhengzhou, China.

    Papers in Europe PMC
  2. 02
    Gu W1 paper · 2022

    Beijing Chigene Translational Medical Research Center Co., Ltd., Beijing, China.

    Papers in Europe PMC
  3. 03
    Li F1 paper · 2022

    Beijing Chigene Translational Medical Research Center Co., Ltd., Beijing, China.

    Papers in Europe PMC
  4. 04
    Liu H1 paper · 2022

    Department of Medical Genetics, Henan Provincial People's Hospital, People's Hospital of Zhengzhou University, People's Hospital of Henan University, Zhengzhou, China.

    Papers in Europe PMC
  5. 05
    Liu Y1 paper · 2022

    Department of Pediatrics, Henan Provincial People's Hospital, People's Hospital of Zhengzhou University, People's Hospital of Henan University, Zhengzhou, China.

    Papers in Europe PMC
  6. 06
    Mei S1 paper · 2022

    Henan Provincial Key Laboratory of Children's Genetics and Metabolic Diseases, Children's Hospital Affiliated to Zhengzhou University, Zhengzhou, China.

    Papers in Europe PMC
  7. 07
    Sailer S1 paper · 1993

    Institute of Human Genetics, Heidelberg University, Heidelberg, Germany

    Papers in Europe PMC
  8. 08
    Saitoh S1 paper · 2022

    Department of Pediatrics and Neonatology, Graduate School of Medical Sciences, Nagoya City University, Kawasumi 1, Mizuho-cho, Mizuho-ku, Nagoya 467-8601, Japan.

    Papers in Europe PMC
  9. 09
    Schaaf C1 paper · 1993

    Medical Director and Chairman, Institute of Human Genetics, Heidelberg University, Heidelberg, Germany

    Papers in Europe PMC
  10. 10
    Wang Y1 paper · 2022

    Rugby School, Warwickshire, United Kingdom.

    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.

Broader category Hao-Fountain syndrome also has no matched interventional trial. See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.

Broader category: Hao-Fountain syndrome

0

Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.

Parent-category matching found a broader label but no interventional trials under it. How we count trials.

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 Hao-Fountain syndrome due to USP7 mutation — 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.

("Hao-Fountain syndrome due to USP7 mutation" OR "HAFOUS due to USP7 mutation" OR "USP7-related neurodevelopmental disorder") OR ("USP7" OR "USP7 syndrome" OR "USP7-related")

Run this search on Europe PMC

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

"Hao-Fountain syndrome due to USP7 mutation" OR "HAFOUS due to USP7 mutation" OR "USP7-related neurodevelopmental disorder"

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

Parent-category trials query:

"Hao-Fountain syndrome"

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 (6260) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-27T19:38:56.637Z