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Growth delay due to insulin-like growth factor I deficiency is characterized by the association of intrauterine and postnatal growth retardation with sensorineural deafness and intellectual deficit.
Features include always present findings: Decreased body weight, Decreased serum insulin-like growth factor 1, Mild bone density loss (osteopenia), and Elevated circulating growth hormone concentration; and very common findings: Microcephaly, Short stature, Inner ear hearing loss (sensorineural hearing impairment), and Short attention span and others. 46 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Growth and development | 8 | Short stature, Decreased serum insulin-like growth factor 1, Postnatal growth retardation |
Hormones | 4 | Decreased serum insulin-like growth factor 1, Elevated circulating growth hormone concentration, Insulin resistance |
Ears | 4 | Inner ear hearing loss (sensorineural hearing impairment), Prelingual sensorineural hearing impairment, Congenital sensorineural hearing impairment |
Bones and joints | 3 | Delayed skeletal maturation, Mild bone density loss (osteopenia), Weak and brittle bones (osteoporosis) |
Brain and nerves | 3 | Intellectual disability, Atypical behavior, Mild intellectual disability |
Pregnancy and birth | 3 | Congenital sensorineural hearing impairment, Neonatal hyperbilirubinemia, Congenital bilateral ptosis |
Head and neck | 2 | Microcephaly, Abnormal facial shape |
Eyes | 2 | Ptosis, Congenital bilateral ptosis |
Lab test results | 2 | Elevated circulating growth hormone concentration, Neonatal hyperbilirubinemia |
Arms and legs | 1 | Clinodactyly of the 5th finger |
IGF1 encodes insulin like growth factor 1 (195 aa). The insulin-like growth factors, isolated from plasma, are structurally and functionally related to insulin but have a much higher growth-promoting activity. Highest expression in Cervix Endocervix (46.7 TPM) and Cervix Ectocervix (41.2 TPM).
Growth delay due to insulin-like growth factor type 1 deficiency is associated with mutations in the IGF1 gene on chromosome 12.
IGF1 is classified as a druggable target (Clinically Actionable, Druggable Genome, Growth Factor, Hormone Activity, and Kinase categories) with score 13.1.
Genetic testing for IGF1 is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for growth delay due to insulin-like growth factor type 1 deficiency has been reported in the published literature.
Phenotype severity distribution: 4 always present features, 20 very common features, 10 common features.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
1 clinical trial registered, 1 recruiting. Interventions under study include drug therapy. Research is primarily industry-sponsored.
132 publications have been identified in PubMed for growth delay due to insulin-like growth factor type 1 deficiency. Kisho has analyzed 43 by research type. Research spans Review / Meta-Analysis (37%), Basic Science / Preclinical (26%), and Case Report / Case Series (12%).
Research Type | Count | % of Total |
|---|---|---|
Research summaries | 16 | 37% |
Laboratory research | 11 | 26% |
Patient case studies | 5 | 12% |
Disease patterns and progression | 5 | 12% |
Testing and diagnosis research | 2 | 5% |
Clinical study results | 2 | 5% |
Other research | 1 | 2% |
New treatment approaches | 1 | 2% |
Yang W (2026). [PMID: 41806600](https://pubmed.ncbi.nlm.nih.gov/41806600/). *Growth Horm IGF Res*. [Review / Meta-Analysis]
Hu Z (2026). [PMID: 41608982](https://pubmed.ncbi.nlm.nih.gov/41608982/). *Adv Sci (Weinh)*. [Diagnostic / Biomarker]
Ramon-Krauel M (2026). [PMID: 40626687](https://pubmed.ncbi.nlm.nih.gov/40626687/). *J Clin Endocrinol Metab*. [Epidemiology / Natural History]
Neshat N (2026). [PMID: 41622549](https://pubmed.ncbi.nlm.nih.gov/41622549/). *Cardiol Rev*. [Review / Meta-Analysis]
Tailor K (2026). [PMID: 41877483](https://pubmed.ncbi.nlm.nih.gov/41877483/). *Mol Ther*. [Gene Therapy / Novel Therapeutics]
Erlenhardt N (2026). [PMID: 41177447](https://pubmed.ncbi.nlm.nih.gov/41177447/). *J Mol Cell Cardiol*. [Basic Science / Preclinical]
Glamočanin T (2026). [PMID: 41976834](https://pubmed.ncbi.nlm.nih.gov/41976834/). *J Clin Med*. [Diagnostic / Biomarker]
Manni E (2026). [PMID: 41905220](https://pubmed.ncbi.nlm.nih.gov/41905220/). *Cytokine*. [Review / Meta-Analysis]
Ma X (2025). [PMID: 40964165](https://pubmed.ncbi.nlm.nih.gov/40964165/). *Front Endocrinol (Lausanne)*. [Review / Meta-Analysis]
Ballester-Rosado CJ (2025). [PMID: 39516073](https://pubmed.ncbi.nlm.nih.gov/39516073/). *Neurotherapeutics*. [Basic Science / Preclinical]
Data assembled from 7 of 12 sources · Last updated Sep 20, 2026, 6:53 AM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center