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ORPHA:73272

Growth delay due to insulin-like growth factor type 1 deficiency

low confidenceDisorder

Also known as: Growth delay-deafness-intellectual disability syndrome · Growth delay-hearing loss-intellectual disability syndrome · IGF-1 deficiency · Primary insulin-like growth factor deficiency

Publications

75,374

Trials

4

Interventional, condition-specific

Researchers

1,129

Distinct authors in sample

Gene link

IGF1

Definitive

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

Growth delay due to insulin-like growth factor I deficiency is characterised by the association of intrauterine and postnatal growth retardation with sensorineural deafness and intellectual deficit.

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 (3)

growth delay-deafness- intellectual disability syndrome · growth retardation with deafness and mental retardation due to IGF1 deficiency · primary insulin-like growth factor deficiency

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 — IGF1

  2. LiteraturePresent

    75,374 matched papers (34,610 in last 10 years) Source

  3. Phenotype characterisedPresent

    59 HPO annotations (e.g. Short attention span; Postnatal growth retardation; Intellectual disability) 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

    4 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 (IGF1).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

59

Associated phenotypes · MONDO:0012110

  • Short attention span
  • Postnatal growth retardation
  • Intellectual disability
  • Delayed skeletal maturation
  • Motor delay

Showing 5 of 59 — 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

2

Drugs / clinical candidates · MONDO_0012110

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

75,374

75,374 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.

75,374 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).

34,610 in the last 10 years · low confidence

Phrase hits: 1,123 · MeSH hits: 2

Open Europe PMC search

Who's working on it?

1,129

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
    Tarantini S15 papers · 2025

    Vascular Cognitive Impairment, Neurodegeneration, and Healthy Brain Aging Program, Department of Neurosurgery, University of Oklahoma Health Sciences Center, Oklahoma City, OK, USA.

    Papers in Europe PMC
  2. 02
    Yabluchanskiy A15 papers · 2025

    Reynolds Oklahoma Center on Aging, Department of Geriatric Medicine, University of Oklahoma Health Sciences Center, 975 NE 10th Street, SLY-BRC 1303, Oklahoma City, OK, 73104, USA.

    Papers in Europe PMC
  3. 03
    Csiszar A13 papers · 2025

    Reynolds Oklahoma Center on Aging, Department of Geriatric Medicine, University of Oklahoma Health Sciences Center, 975 NE 10th Street, SLY-BRC 1303, Oklahoma City, OK, 73104, USA.

    Papers in Europe PMC
  4. 04
    Ungvari Z13 papers · 2025

    Reynolds Oklahoma Center on Aging, Department of Geriatric Medicine, University of Oklahoma Health Sciences Center, 975 NE 10th Street, SLY-BRC 1303, Oklahoma City, OK, 73104, USA.

    Papers in Europe PMC
  5. 05
    Toth P9 papers · 2025

    Vascular Cognitive Impairment, Neurodegeneration and Healthy Brain Aging Program, Department of Neurosurgery, University of Oklahoma Health Sciences Center, Oklahoma City, OK, USA.

    Papers in Europe PMC
  6. 06
    Ungvari A9 papers · 2025

    Institute of Preventive Medicine and Public Health, Semmelweis University, Budapest, Hungary. Ungann2004@gmail.com.

    Papers in Europe PMC
  7. 07
    Gulej R8 papers · 2025

    Vascular Cognitive Impairment, Neurodegeneration, and Healthy Brain Aging Program, Department of Neurosurgery, University of Oklahoma Health Sciences Center, Oklahoma City, OK, USA.

    Papers in Europe PMC
  8. 08
    Li Y6 papers · 2025

    Department of Emergency, Qingdao Central Hospital, University of Health and Rehabilitation Sciences, Qingdao, China.

    Papers in Europe PMC
  9. 09
    Patai R6 papers · 2025

    Vascular Cognitive Impairment, Neurodegeneration, and Healthy Brain Aging Program, Department of Neurosurgery, University of Oklahoma Health Sciences Center, Oklahoma City, OK, USA.

    Papers in Europe PMC
  10. 10
    Castilla-Cortázar I5 papers · 2024

    Fundacion de Investigacion HM Hospitales, Madrid, Spain; Tecnologico de Monterrey, Escuela de Medicina y Ciencias de la Salud, Ave. Morones Prieto 3000, Monterrey, N.L., Mexico, 64710. Electronic address: iccortazar@gmail.com.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

4

interventional trials for this specific condition

4 interventional trials matched this specific condition name; none in our sample are currently recruiting.

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

4 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 88.1th percentile).

low confidence · 88.1th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

4 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

2 observational studies match 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.

None of the matched observational studies is currently listed as 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 Growth delay due to insulin-like growth factor type 1 deficiency — 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.

("Growth delay due to insulin-like growth factor type 1 deficiency" OR "Growth delay-deafness-intellectual disability syndrome" OR "Growth delay-hearing loss-intellectual disability syndrome" OR "IGF-1 deficiency" OR "Primary insulin-like growth factor deficiency" OR "growth delay-deafness- intellectual disability syndrome" OR "growth retardation with deafness and mental retardation due to IGF1 deficiency") OR (MESH:"Insulin-Like Growth Factor I Deficiency") OR ("IGF1" OR "IGF1 syndrome" OR "IGF1-related")

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Insulin-Like Growth Factor I Deficiency

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

"Growth delay due to insulin-like growth factor type 1 deficiency" OR "Growth delay-deafness-intellectual disability syndrome" OR "Growth delay-hearing loss-intellectual disability syndrome" OR "IGF-1 deficiency" OR "Primary insulin-like growth factor deficiency" OR "growth delay-deafness- intellectual disability syndrome" OR "growth retardation with deafness and mental retardation due to IGF1 deficiency" OR "Insulin-Like Growth Factor I Deficiency"

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: 4 interventional · 2 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase, mesh; with hits: phrase, mesh

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 (75374) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T01:45:26.835Z