RARE DISEASERESEARCH ATLAS
Open navigation menu

ORPHA:404448

Helsmoortel-Van der Aa syndrome

low confidenceDisorder

Also known as: ADNP syndrome · ADNP-related Helsmoortel-Van der Aa syndrome · ADNP-related syndromic intellectual disability-autism spectrum disorder · HVDAS

Publications

2,117

Trials

1

Interventional, condition-specific

Researchers

1,565

Distinct authors in sample

Gene link

ADNP

Definitive

Readiness

5/6

Stages with a signal

Clinical definition (Orphanet)

A rare neurodevelopmental disorder characterized by (ID), autistic features, gastrointestinal problems, , delayed speech, behavioral and sleep problems, pain insensitivity, , structural brain anomalies, features, and visual problems.

How rare: How common this is has not been clearly measured.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (3)

ADNP Syndrome · ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder · autosomal dominant intellectual disability 28

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.”

5/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Definitive — ADNP

  2. LiteraturePresent

    2,117 matched papers (1,650 in last 10 years) Source

  3. Phenotype characterisedPresent

    192 HPO annotations (e.g. Abnormal speech pattern; Reduced social responsiveness; Compulsive behaviors) 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 trialPresent

    1 matched on ClinicalTrials.gov

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 (ADNP).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

192

Associated phenotypes · MONDO:0014379

  • Abnormal speech pattern
  • Reduced social responsiveness
  • Compulsive behaviors
  • Anxiety
  • Abnormal finger morphology

Showing 5 of 192 — 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

1

Drugs / clinical candidates · MONDO_0014379

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

2,117

2,117 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.

2,117 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).

1,650 in the last 10 years · low confidence

Phrase hits: 267 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,565

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

Who's working on it?

People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.

  1. 01
    Gozes I39 papers · 2026

    The First Lily and Avraham Gildor Chair for the Investigation of Growth Factors; The Elton Laboratory for Neuroendocrinology; Department of Human Molecular Genetics and Biochemistry, Sackler Faculty of Medicine, Sagol School of Neuroscience and Adams Super Center for Brain Studies, Tel Aviv University, Tel Aviv, 69978, Israel. igozes@tauex.tau.ac.il.

    Papers in Europe PMC
  2. 02
    Kooy RF23 papers · 2026

    Department of Medical Genetics, University of Antwerp, Antwerp, Belgium.

    Papers in Europe PMC
  3. 03
    Sadikovic B18 papers · 2025

    Department of Pathology and Laboratory Medicine, Western University, London, ON N6A 3K7, Canada.

    Papers in Europe PMC
  4. 04
    D'Incal CP12 papers · 2026

    Department of Medical Genetics, University of Antwerp, Antwerp, Belgium.

    Papers in Europe PMC
  5. 05
    Kerkhof J12 papers · 2024

    Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON N6A 5W9, Canada.

    Papers in Europe PMC
  6. 06
    Levy MA12 papers · 2025

    Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON N6A 5W9, Canada.

    Papers in Europe PMC
  7. 07
    Van Dijck A12 papers · 2025

    Department of Medical Genetics, University and University Hospital of Antwerp, Antwerp, Belgium.

    Papers in Europe PMC
  8. 08
    McConkey H11 papers · 2025

    Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON N6A 5W9, Canada; Department of Pathology and Laboratory Medicine, Western University, London, ON N6A 3K7, Canada.

    Papers in Europe PMC
  9. 09
    Buxbaum JD10 papers · 2026

    Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY, USA. joseph.buxbaum@mssm.edu.

    Papers in Europe PMC
  10. 10
    Karmon G9 papers · 2025

    The First Lily and Avraham Gildor Chair for the Investigation of Growth Factors; The Elton Laboratory for Neuroendocrinology; Department of Human Molecular Genetics and Biochemistry, Sackler Faculty of Medicine, Sagol School of Neuroscience and Adams Super Center for Brain Studies, Tel Aviv University, Tel Aviv, 69978, Israel.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

1

interventional trials for this specific condition

1 interventional trial matched this specific condition name; none in our sample are currently recruiting.

Data as of 11 September 2026 · last trial check 28 July 2026

1 interventional trial — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 80.1th percentile).

low confidence · 80.1th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

1 interventional trials matched after quoted-phrase search and title/condition post-filter.

No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.

Observational and natural-history studies

1 observational study matches this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.

Recruiting or not-yet-recruiting

Open the complete matched search on ClinicalTrials.gov

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 Helsmoortel-Van der Aa 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.

("Helsmoortel-Van der Aa syndrome" OR "ADNP syndrome" OR "ADNP-related Helsmoortel-Van der Aa syndrome" OR "ADNP-related syndromic intellectual disability-autism spectrum disorder" OR "HVDAS" OR "ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder" OR "autosomal dominant intellectual disability 28") OR ("ADNP" OR "ADNP-related")

Run this search on Europe PMC

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

"Helsmoortel-Van der Aa syndrome" OR "ADNP syndrome" OR "ADNP-related Helsmoortel-Van der Aa syndrome" OR "ADNP-related syndromic intellectual disability-autism spectrum disorder" OR "HVDAS" OR "ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder" OR "autosomal dominant intellectual disability 28"

Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 1 interventional · 1 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 (2117) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-27T15:33:41.061Z