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ORPHA:73273

Growth delay due to insulin-like growth factor I resistance

high confidenceDisorder

Also known as: Resistance to IGF-1

Publications

354

81.7th percentile

Trials

3

Interventional, condition-specific

Researchers

1,179

Distinct authors in sample

Gene link

IGF1R

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

Growth delay due to IGF-I resistance is characterised by variable intrauterine and postnatal growth retardation and elevated serum IGF-I levels. Addition features include variable degrees of intellectual deficit, microcephaly and dysmorphism (broad nasal bridge and tip, smooth philtrum, thin upper and everted lower lips, short fingers, clinodactyly, wide-set nipples and pectus excavatum).

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 (2)

growth delay due to insulin-like growth factor I resistance · resistance to IGF-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.”

3/6 stages with a signal

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

  1. Gene identifiedPresent

    Definitive — IGF1R

  2. LiteraturePresent

    354 matched papers (245 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialPresent

    3 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 (IGF1R).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

Not enriched in this build — Monarch phenotype joins were not run for this record.

Animal models (Monarch / Alliance)

Not enriched in this build.

Literature

Is anyone studying this?

354

354 papers have ever been published on this condition (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=5449) is 41.

354 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).

245 in the last 10 years · high confidence · 81.7th percentile (publications denominator)

Phrase hits: 354 · MeSH hits: 1

Open Europe PMC search

Who's working on it?

1,179

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
    Zhang L4 papers · 2026

    School of Physical Education & Sports Science, South China Normal University, 55 Zhongshan Road West, Tianhe District, Guangzhou, 510631, Guangdong, China. lingliwdc@163.com.

    Papers in Europe PMC
  2. 02
    Wang Y3 papers · 2026

    Department of Dermatology, The Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, Wenzhou, China.

    Papers in Europe PMC
  3. 03
    Wu Z3 papers · 2025

    School of Pharmacy, Shanghai Jiao Tong University, 800 Dongchuan Road, Shanghai 200240, China. Electronic address: wuzhenghua@sjtu.edu.cn.

    Papers in Europe PMC
  4. 04
    Yang Y3 papers · 2026

    Department of Children Health Care, Wuhan Children's Hospital (Wuhan Maternal and Child Healthcare Hospital) Tongji Medical College, Huazhong University of Science and Technology, Wuhan, CHN.

    Papers in Europe PMC
  5. 05
    Zhang H3 papers · 2026

    College of Sports Medicine, Wuhan Sports University, Wuhan, China.

    Papers in Europe PMC
  6. 06
    Zhang Y3 papers · 2026

    Department of Neurology, First Hospital of Shanxi Medical University, Taiyuan, 030001, Shanxi, China.

    Papers in Europe PMC
  7. 07
    Zhang Z3 papers · 2026

    Department of General Practice, People's Hospital of Longhua, 38 Jinglong Jianshe Road, Shenzhen 518109, China.

    Papers in Europe PMC
  8. 08
    Cacciabaudo F2 papers · 2025

    Institute of Clinical Biochemistry, Clinical Molecular Medicine, and Clinical Laboratory Medicine, Department of Biomedicine, Neurosciences, and Advanced Diagnostics, University of Palermo, 90127 Palermo, Italy.

    Papers in Europe PMC
  9. 09
    Chen H2 papers · 2019

    School of Pharmacy, Shanghai Jiao Tong University, 800 Dongchuan Road, Shanghai 200240, China.

    Papers in Europe PMC
  10. 10
    Ciaccio M2 papers · 2025

    Institute of Clinical Biochemistry, Clinical Molecular Medicine, and Clinical Laboratory Medicine, Department of Biomedicine, Neurosciences, and Advanced Diagnostics, University of Palermo, 90127 Palermo, Italy.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

3

interventional trials for this specific condition

3 interventional trials matched this specific condition name; 1 currently recruiting in our sample.

Data as of 27 July 2026

3 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 85.1th percentile).

high confidence · 85.1th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

4 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

Where to find support

We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:

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 I resistance" OR "Resistance to IGF-1"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Insulin-Like Growth Factor I, Resistance To

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

"Growth delay due to insulin-like growth factor I resistance" OR "Resistance to IGF-1" OR "Insulin-Like Growth Factor I, Resistance To" OR "IGF1R"

Recall-expansion terms: IGF1R

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

Study-type breakdown: 3 interventional · 4 observational · 0 expanded access. Only interventional studies enter the trial headline.

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

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 2026-07-27T01:45:43.499Z