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ORPHA:329224

Schuurs-Hoeijmakers syndrome

low confidenceDisorder

Also known as: PACS1-related NDD · PACS1-related neurodevelopmental disorder · PACS1-related syndrome

Publications

863

Trials

1

Interventional, condition-specific

Researchers

903

Distinct authors in sample

Gene link

PACS1

Definitive

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A rare genetic neurodevelopmental disorder characterized by mild-to-moderate , motor and speech delay, and characteristic craniofacial features. Other features might include , , feeding difficulties, autism spectrum disorder, and sleep disturbances. anomalies, including cardiac, ocular, cerebral, and genitourinary defects, may also be observed.

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 (6)

MRD17 · SHMS · autosomal dominant intellectual disability 17 · intellectual disability, autosomal dominant type 17 · intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome · mental retardation, autosomal dominant type 17

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

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

  1. Gene identifiedPresent

    Definitive — PACS1

  2. LiteraturePresent

    863 matched papers (526 in last 10 years) Source

  3. Phenotype characterisedPresent

    100 HPO annotations (e.g. Abnormal cardiac septum morphology; Seizure; Volvulus) 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 trialPresent

    1 matched on ClinicalTrials.gov (1 recruiting in sample)

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 (PACS1).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

100

Associated phenotypes · MONDO:0014006

  • Abnormal cardiac septum morphology
  • Seizure
  • Volvulus
  • Generalized hypotonia
  • Nystagmus

Showing 5 of 100 — 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?

863

863 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.

863 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).

526 in the last 10 years · low confidence

Phrase hits: 108 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

903

Distinct author names in 108 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
    Pié J5 papers · 2026

    CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Melchor Fernández Almagro 3, 28029 Madrid, Spain.

    Papers in Europe PMC
  2. 02
    Arnedo M4 papers · 2026

    Unit of Clinical Genetics and Functional Genomics, Department of Pharmacology-Physiology, School of Medicine, University of Zaragoza, CIBERER-GCV02 and IIS-Aragon, E-50009 Zaragoza, Spain.

    Papers in Europe PMC
  3. 03
    Ayerza-Casas A4 papers · 2026

    Unit of Clinical Genetics and Functional Genomics, Department of Pharmacology-Physiology, School of Medicine, University of Zaragoza, CIBERER-GCV02 and IIS-Aragon, E-50009 Zaragoza, Spain.

    Papers in Europe PMC
  4. 04
    Gil-Salvador M4 papers · 2026

    Unit of Clinical Genetics and Functional Genomics, Department of Pharmacology-Physiology, School of Medicine, University of Zaragoza, CIBERER-GCV02 and IIS-Aragon, E-50009 Zaragoza, Spain.

    Papers in Europe PMC
  5. 05
    Latorre-Pellicer A4 papers · 2026

    Unit of Clinical Genetics and Functional Genomics, Department of Pharmacology-Physiology, School of Medicine, University of Zaragoza, CIBERER-GCV02 and IIS-Aragon, E-50009 Zaragoza, Spain.

    Papers in Europe PMC
  6. 06
    Lucia-Campos C4 papers · 2026

    Unit of Clinical Genetics and Functional Genomics, Department of Pharmacology-Physiology, School of Medicine, University of Zaragoza, CIBERER-GCV02 and IIS-Aragon, E-50009 Zaragoza, Spain.

    Papers in Europe PMC
  7. 07
    Puisac B4 papers · 2026

    Unit of Clinical Genetics and Functional Genomics, Department of Pharmacology-Physiology, School of Medicine, University of Zaragoza, CIBERER-GCV02 and IIS-Aragon, E-50009 Zaragoza, Spain.

    Papers in Europe PMC
  8. 08
    Ramos FJ4 papers · 2025

    CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Melchor Fernández Almagro 3, 28029 Madrid, Spain.

    Papers in Europe PMC
  9. 09
    Uehara T4 papers · 2021

    Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan.

    Papers in Europe PMC
  10. 10
    de Vries BBA3 papers · 2023

    Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands. bert.devries@radboudumc.nl.

    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; 1 currently recruiting in our sample.

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.

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 Schuurs-Hoeijmakers 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.

("Schuurs-Hoeijmakers syndrome" OR "PACS1-related NDD" OR "PACS1-related neurodevelopmental disorder" OR "PACS1-related syndrome" OR "MRD17" OR "autosomal dominant intellectual disability 17" OR "intellectual disability, autosomal dominant type 17" OR "intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome" OR "mental retardation, autosomal dominant type 17") OR ("PACS1" OR "PACS1 syndrome" OR "PACS1-related")

Run this search on Europe PMC

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

"Schuurs-Hoeijmakers syndrome" OR "PACS1-related NDD" OR "PACS1-related neurodevelopmental disorder" OR "PACS1-related syndrome" OR "MRD17" OR "autosomal dominant intellectual disability 17" OR "intellectual disability, autosomal dominant type 17" OR "intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome" OR "mental retardation, autosomal dominant type 17"

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 · 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

Synonyms dropped by stoplist: SHMS

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 1 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (863) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T13:46:31.590Z