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short stature due to growth hormone qualitative anomaly - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

short stature due to growth hormone qualitative anomaly

MONDO:0009879

Also known as:Kowarski syndromeBiodefective Growth hormonepituitary dwarfism with normal immunoreactive Growth hormone and Low Somatomedin

Overview

Short stature due to growth hormone qualitative anomaly is characterized by growth retardation and short stature (despite the presence of normal or slightly elevated levels of immunoreactive growth hormone, GH), low concentrations of insulin-like growth factor-I (IGF-I) and a significant increase in growth rate following recombinant GH therapy. Prevalence is unknown but only a few cases have been reported in the literature. The syndrome is caused by various mutations in the GH1 gene (17q22-q24) that result in structural GH anomalies and a biologically inactive molecule. Transmission is autosomal recessive.

GeneticsAutosomal recessive · GH1 (chr 17)

ResearchLimited published research (1 article)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include: Delayed skeletal maturation, Pituitary dwarfism, Abnormality of metabolism/homeostasis, and Growth delay.

Organ System	Phenotype Count	Example Features
Growth and development	2	Pituitary dwarfism, Growth delay
Bones and joints

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

GH1 encodes growth hormone 1 (217 aa). Plays an important role in growth control. Its major role in stimulating body growth is to stimulate the liver and other tissues to secrete IGF1. Highest expression in Pituitary (53,059 TPM) and Brain Cerebellum (5.3 TPM).

Short stature due to growth hormone qualitative anomaly is associated with mutations in the GH1 gene on chromosome 17.

GH1 is classified as a druggable target (Druggable Genome, Growth Factor, and Hormone Activity categories) with score 8.7.

Diagnosis

Genetic testing for GH1 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for short stature due to growth hormone qualitative anomaly.

1 publication has been identified in PubMed for short stature due to growth hormone qualitative anomaly. Research spans Review / Meta-Analysis (100%).

Recent Publications

Paltoglou G (2024). [PMID: 39062241](https://pubmed.ncbi.nlm.nih.gov/39062241/). *Children (Basel)*. [Review / Meta-Analysis]

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 1:17 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:262650

Orphanet

European rare disease database

Orphanet:629

GARD

Genetic and Rare Diseases Info Center

GARD:408

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
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short stature due to growth hormone qualitative anomaly

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

Questions for Your Care Team

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