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short stature due to partial GHR deficiency - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

short stature due to partial GHR deficiency

MONDO:0011420

Also known as:short stature due to partial growth hormone receptor deficiencyGHIPGrowth hormone deficiency, isolated, partial

Overview

Short stature due to partial GHR deficiency is a rare, genetic, endocrine disease characterized by idiopathic short stature due to diminished GHR function (decreased ligand binding or reduced availability of receptor), thus resulting in partial insensitivity to growth hormone.

GeneticsAutosomal dominant · GHR (chr 5)

ResearchLimited published research (3 articles)

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 very common findings: Short stature, Decreased serum insulin-like growth factor 1, Delayed skeletal maturation, and Growth delay; and sometimes findings: Delayed puberty, Hypoglycemia, and Midface retrusion.

Organ System	Phenotype Count	Example Features
Growth and development	3	Short stature, Decreased serum insulin-like growth factor 1, Growth delay

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.

GHR encodes growth hormone receptor (638 aa). Receptor for pituitary gland growth hormone (GH1) involved in regulating postnatal body growth. On ligand binding, couples to the JAK2/STAT5 pathway Highest expression in Adipose Subcutaneous (51.4 TPM) and Adipose Visceral Omentum (41.4 TPM).

Short stature due to partial GHR deficiency is associated with mutations in the GHR gene on chromosome 5.

The GHR protein participates in GHR internalization pathway.

GHR is classified as a druggable target (Cell Surface, Druggable Genome, and External Side Of Plasma Membrane categories) with score 10.4.

Diagnosis

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

Prognosis

Phenotype severity distribution: 4 very common features.

Estimated prevalence: Unknown (Unknown prevalence).

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 partial GHR deficiency.

3 publications have been identified in PubMed for short stature due to partial GHR deficiency. Research spans Other (33%), Review / Meta-Analysis (33%), and Case Report / Case Series (33%).

Recent Publications

Niehues T (2024). [PMID: 39381601](https://pubmed.ncbi.nlm.nih.gov/39381601/). *Allergol Select*. [Other]
Plachy L (2024). [PMID: 39749023](https://pubmed.ncbi.nlm.nih.gov/39749023/). *Front Endocrinol (Lausanne)*. [Review / Meta-Analysis]
Çelik NB (2024). [PMID: 36688726](https://pubmed.ncbi.nlm.nih.gov/36688726/). *J Clin Res Pediatr Endocrinol*. [Case Report / Case Series]

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 6:22 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:604271

Orphanet

European rare disease database

Orphanet:314802

GARD

Genetic and Rare Diseases Info Center

GARD:17435

Questions for Your Care Team

→Should I pursue genetic testing for GHR, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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short stature due to partial GHR deficiency

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

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