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ORPHA:251028

SATB2-associated syndrome due to a chromosomal rearrangement

high confidenceSubtype of disorder

Also known as: 2q33.1 microdeletion syndrome · Del(2)(q33.1) · Monosomy 2q33.1

Publications

19

25.8th percentile

Trials

0

Interventional, condition-specific

Researchers

167

Distinct authors in sample

Gene link

—

Readiness

2/6

Stages with a signal

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 (1)

monosomy 2q33.1

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.”

2/6 stages with a signal

Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    19 matched papers (8 in last 10 years) Source

  3. Phenotype characterisedPresent

    82 HPO annotations (e.g. Absent speech; Micrognathia; Hypermetropia) 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?

Not yet — the cause hasn't been pinned down in GenCC.

No strong gene–disease assertion joined for this Orphanet entity.

Phenotypes (Monarch / HPO)

82

Associated phenotypes · MONDO:0016653

  • Absent speech
  • Micrognathia
  • Hypermetropia
  • Atypical behavior
  • Abnormal facial shape

Showing 5 of 82 — 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?

19

19 papers have ever been indexed under this name. For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

19 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).

8 in the last 10 years · high confidence · 25.8th percentile (publications denominator)

Phrase hits: 19 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

167

Distinct author names in 19 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
    Chen P2 papers · 2019

    Prenatal Diagnosis Center, Lishui Maternity and Child Health Care Hospital, Lishui, China.

    Papers in Europe PMC
  2. 02
    Jin C2 papers · 2019

    Prenatal Diagnosis Center, Lishui Maternity and Child Health Care Hospital, Lishui, China.

    Papers in Europe PMC
  3. 03
    Lei Y2 papers · 2019

    Prenatal Diagnosis Center, Lishui Maternity and Child Health Care Hospital, Lishui, China.

    Papers in Europe PMC
  4. 04
    Liu J2 papers · 2019

    Prenatal Diagnosis Center, Lishui Maternity and Child Health Care Hospital, Lishui, China.

    Papers in Europe PMC
  5. 05
    Mehta R2 papers · 2015

    Department of Pediatrics, Rutgers Robert Wood Johnson Medical School New Brunswick, New Jersey, USA.

    Papers in Europe PMC
  6. 06
    Rosenfeld JA2 papers · 2011

    Signature Genomic Laboratories LLC, Spokane, WA, USA.

    Papers in Europe PMC
  7. 07
    Vermeesch JR2 papers · 2009
    Papers in Europe PMC
  8. 08
    Zarate YA2 papers · 2017

    Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Little Rock, Arkansas.

    Papers in Europe PMC
  9. 09
    Anichini C1 paper · 2007
    Papers in Europe PMC
  10. 10
    Arrigo G1 paper · 2007
    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.

high 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 SATB2-associated syndrome due to a chromosomal rearrangement — 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.

"SATB2-associated syndrome due to a chromosomal rearrangement" OR "2q33.1 microdeletion syndrome" OR "Del(2)(q33.1)" OR "Monosomy 2q33.1"

Run this search on Europe PMC

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

"SATB2-associated syndrome due to a chromosomal rearrangement" OR "2q33.1 microdeletion syndrome" OR "Del(2)(q33.1)" OR "Monosomy 2q33.1"

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

Ingested 2026-07-27T10:41:29.979Z