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Growth delay due to IGF-I resistance is characterized 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).
Features include very common findings: Intrauterine growth retardation; and common findings: Severe short stature, Delayed skeletal maturation, Everted lower lip vermilion, and Thin vermilion border and others. 56 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Head and neck | 6 | Microcephaly, Triangular face, Thin upper lip vermilion |
Growth and development | 5 | Severe short stature, Short stature, Increased circulating insulin-like growth factor 1 concentration |
Brain and nerves | 5 | Agitation, Intellectual disability, Global developmental delay |
Arms and legs | 4 | Short foot, Short finger, Radial deviation of finger |
Hormones | 2 | Increased circulating insulin-like growth factor 1 concentration, Diabetes mellitus |
Heart and blood vessels | 2 | Ventricular septal defect, Atrial septal defect |
Eyes | 1 | Strabismus |
Lab test results | 1 | Increased circulating insulin-like growth factor 1 concentration |
Bones and joints | 1 | Delayed skeletal maturation |
Skin | 1 | Reduced subcutaneous adipose tissue |
IGF1R encodes insulin like growth factor 1 receptor (1,367 aa). Receptor tyrosine kinase which mediates actions of insulin-like growth factor 1 (IGF1). Binds IGF1 with high affinity and IGF2 and insulin (INS) with a lower affinity. Highest expression in Artery Tibial (41.2 TPM) and Ovary (34.9 TPM).
Growth delay due to insulin-like growth factor I resistance is associated with mutations in the IGF1R gene on chromosome 15.
IGF1R is classified as a druggable target (Clinically Actionable, Druggable Genome, Kinase, and Tyrosine Kinase categories) with score 4.2.
Genetic testing for IGF1R is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for growth delay due to insulin-like growth factor I resistance has been reported in the published literature.
Phenotype severity distribution: 1 very common feature, 6 common features.
Estimated prevalence: Unknown (Unknown prevalence).
3 clinical trials registered. Interventions under study include drug therapy and other interventions. Pipeline includes 2 PHASE2. Research is sponsored by a mix of industry and academic institutions.
106 publications have been identified in PubMed for growth delay due to insulin-like growth factor I resistance. Research spans Review / Meta-Analysis (39%), Basic Science / Preclinical (28%), and Clinical Trial Publication (14%).
Research Type | Count | % of Total |
|---|---|---|
Research summaries | 41 | 39% |
Laboratory research | 30 | 28% |
Clinical study results | 15 | 14% |
Disease patterns and progression | 11 | 10% |
Patient case studies | 3 | 3% |
New treatment approaches | 3 | 3% |
Testing and diagnosis research | 2 | 2% |
Other research | 1 | 1% |
Pascual-Corrales E (2026). [PMID: 41912300](https://pubmed.ncbi.nlm.nih.gov/41912300/). *Vitam Horm*. [Review / Meta-Analysis]
Lin W (2026). [PMID: 40569033](https://pubmed.ncbi.nlm.nih.gov/40569033/). *J Clin Endocrinol Metab*. [Diagnostic / Biomarker]
Dong C (2026). [PMID: 41501017](https://pubmed.ncbi.nlm.nih.gov/41501017/). *Nat Commun*. [Epidemiology / Natural History]
Gao J (2026). [PMID: 41352341](https://pubmed.ncbi.nlm.nih.gov/41352341/). *Cell Metab*. [Basic Science / Preclinical]
Bong D (2026). [PMID: 41390120](https://pubmed.ncbi.nlm.nih.gov/41390120/). *Mol Cells*. [Review / Meta-Analysis]
Xenos D (2026). [PMID: 41275975](https://pubmed.ncbi.nlm.nih.gov/41275975/). *Ageing Res Rev*. [Review / Meta-Analysis]
Dani C (2026). [PMID: 42177039](https://pubmed.ncbi.nlm.nih.gov/42177039/). *J Clin Endocrinol Metab*. [Epidemiology / Natural History]
Solé G (2026). [PMID: 41951495](https://pubmed.ncbi.nlm.nih.gov/41951495/). *Rev Med Interne*. [Review / Meta-Analysis]
Iglesias P (2026). [PMID: 41912291](https://pubmed.ncbi.nlm.nih.gov/41912291/). *Vitam Horm*. [Review / Meta-Analysis]
Gatto F (2026). [PMID: 41569446](https://pubmed.ncbi.nlm.nih.gov/41569446/). *Pituitary*. [Review / Meta-Analysis]
Data assembled from 7 of 12 sources · Last updated Sep 20, 2026, 5:39 PM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center