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ORPHA:231137

Silver-Russell syndrome due to 7p11.2p13 microduplication

low confidenceSubtype of disorder

Also known as: Silver-Russell syndrome due to 7p11.2-p13 microduplication · Silver-Russell syndrome due to dup(7)(p11.2p13) · Silver-Russell syndrome due to trisomy 7p11.2-p13 · Silver-Russell syndrome due to trisomy 7p11.2p13

Publications

0

Trials

0

Interventional, condition-specific

Researchers

0

Distinct authors in sample

Gene link

—

Readiness

1/6

Stages with a signal

Orphanet entry

Cross-references

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

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.”

1/6 stages with a signal

Search queries returned nothing — this usually means a naming mismatch, not proof that nothing exists.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteratureNot checked

    Query returned nothing — not evidence of absence Source

  3. Phenotype characterisedPresent

    29 HPO annotations (e.g. Thin upper lip vermilion; Pointed chin; Short chin) 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 checked

    Broken query — trial zero not trusted

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)

29

Associated phenotypes · MONDO:0016479

  • Thin upper lip vermilion
  • Pointed chin
  • Short chin
  • Blue sclerae
  • Small for gestational age

Showing 5 of 29 — 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 2026-07-27

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?

0

We found no papers under this exact name — work may still exist under another label.

0 in the last 10 years · low confidence

Phrase hits: 0 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

0

Distinct author names in 0 sampled papers.

Who's working on it?

No author names could be extracted from the sampled publications. Try the Europe PMC query in “How we counted this,” or contact an umbrella rare-disease organisation for researcher referrals.

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). 1 trial are registered for Silver-Russell syndrome, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 9 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

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.

1 interventional trial matched Silver-Russell syndrome, the broader category — listed below. Those studies are not counted in the condition-specific total.

Broader category: Silver-Russell syndrome

1

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

Worth raising with a clinician. 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 2026-07-27

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 Silver-Russell syndrome due to 7p11.2p13 microduplication — 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.

"Silver-Russell syndrome due to 7p11.2p13 microduplication" OR "Silver-Russell syndrome due to 7p11.2-p13 microduplication" OR "Silver-Russell syndrome due to dup(7)(p11.2p13)" OR "Silver-Russell syndrome due to trisomy 7p11.2-p13" OR "Silver-Russell syndrome due to trisomy 7p11.2p13"

Run this search on Europe PMC

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

"Silver-Russell syndrome due to 7p11.2p13 microduplication" OR "Silver-Russell syndrome due to 7p11.2-p13 microduplication" OR "Silver-Russell syndrome due to dup(7)(p11.2p13)" OR "Silver-Russell syndrome due to trisomy 7p11.2-p13" OR "Silver-Russell syndrome due to trisomy 7p11.2p13"

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

Parent-category trials query:

"Silver-Russell syndrome"

Query health: broken — strategies attempted: phrase; with hits: none

Parent literature probe: Silver-Russell syndrome (MONDO:0008394) — 1814 hits

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
  • Zero publications but parent term Silver-Russell syndrome has 1814 — literature likely indexed under a broader name

Ingested 2026-07-26T02:29:06.924Z · excluded from neglect metrics