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Features include always present findings: Microcephaly, Anterior pituitary hypoplasia, Delayed skeletal maturation, and Short stature and others. 9 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Growth and development | 3 | Short stature, Decreased response to growth hormone stimulation test, Postnatal growth retardation |
RNPC3 function has not been fully characterized.
Isolated growth hormone deficiency, type 5 is associated with mutations in the RNPC3 gene on chromosome 1.
Genetic testing for RNPC3 is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for isolated growth hormone deficiency, type 5 has been reported in the published literature.
Phenotype severity distribution: 7 always present features.
No clinical trials have been registered for isolated growth hormone deficiency, type 5.
173 publications have been identified in PubMed for isolated growth hormone deficiency, type 5. Research spans Basic Science / Preclinical (38%), Epidemiology / Natural History (26%), and Review / Meta-Analysis (15%).
Research Type | Count | % of Total |
|---|---|---|
Laboratory research | 66 | 38% |
Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 11:56 AM UTC
Online Mendelian Inheritance in Man
Hormones
2 |
Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test |
Head and neck | 1 | Microcephaly |
Bones and joints | 1 | Delayed skeletal maturation |
Digestive system | 1 | Abdominal obesity |
Disease patterns and progression
45 |
26% |
Research summaries | 26 | 15% |
Patient case studies | 16 | 9% |
Clinical study results | 12 | 7% |
Testing and diagnosis research | 6 | 3% |
Other research | 1 | 1% |
New treatment approaches | 1 | 1% |
Chrzanowska J (2026). [PMID: 41844520](https://pubmed.ncbi.nlm.nih.gov/41844520/). *Clin Endocrinol (Oxf)*. [Diagnostic / Biomarker]
Mulaw G (2026). [PMID: 42008438](https://pubmed.ncbi.nlm.nih.gov/42008438/). *PLoS One*. [Basic Science / Preclinical]
Huang H (2026). [PMID: 41380994](https://pubmed.ncbi.nlm.nih.gov/41380994/). *Journal of global antimicrobial resistance*. [Clinical Trial Publication]
Prengemann L (2026). [PMID: 41665939](https://pubmed.ncbi.nlm.nih.gov/41665939/). *The Journal of clinical endocrinology and metabolism*. [Clinical Trial Publication]
Ribeiro AC (2026). [PMID: 40554621](https://pubmed.ncbi.nlm.nih.gov/40554621/). *The Journal of clinical endocrinology and metabolism*. [Epidemiology / Natural History]
Katic L (2026). [PMID: 40053320](https://pubmed.ncbi.nlm.nih.gov/40053320/). *Foodborne pathogens and disease*. [Epidemiology / Natural History]
Shi L (2026). [PMID: 42087875](https://pubmed.ncbi.nlm.nih.gov/42087875/). *Front Endocrinol (Lausanne)*. [Review / Meta-Analysis]
Chen X (2026). [PMID: 41578548](https://pubmed.ncbi.nlm.nih.gov/41578548/). *Medicine*. [Review / Meta-Analysis]
Sakurai A (2026). [PMID: 41699761](https://pubmed.ncbi.nlm.nih.gov/41699761/). *Eur J Endocrinol*. [Clinical Trial Publication]
Karachaliou F (2026). [PMID: 40684755](https://pubmed.ncbi.nlm.nih.gov/40684755/). *Hormone research in paediatrics*. [Review / Meta-Analysis]