Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

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

Rare Disease

short stature due to GHSR deficiency

MONDO:0014403

Also known as:ghrelin receptor deficiencyshort stature due to growth hormone secretagogue receptor deficiencyGHDP

Overview

Short stature due to GHSR deficiency is a rare, genetic, endocrine growth disease, resulting from growth hormone secretagogue receptor (GHSR) deficiency, characterized by postnatal growth delay that results in short stature (less than -2 SD). The pituitary gland is typically without morphological changes, although anterior pituitary gland hypoplasia has been reported.

GeneticsAutosomal recessive, Autosomal dominant · GHSR (chr 3)

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, Delayed skeletal maturation, Growth delay, and Hypoglycemia and others; and common findings: Abnormality of body weight. 14 total HPO annotations.

Organ System	Phenotype Count	Example Features
Growth and development	5	Short stature, Postnatal growth retardation, Decreased response to growth hormone stimulation test

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.

GHSR encodes growth hormone secretagogue receptor (366 aa). G-protein-coupled receptor specific to ghrelin, an appetite-regulating peptide hormone commonly found in stomach. Upon activation, stimulates appetite and promotes growth hormone secretion. Highest expression in Pituitary (5.3 TPM) and Brain Hypothalamus (0.2 TPM).

Short stature due to GHSR deficiency is associated with mutations in the GHSR gene on chromosome 3.

The GHSR protein participates in GHSR is a receptor for ghrelin pathway.

GHSR is classified as a druggable target (Cell Surface, Druggable Genome, G Protein Coupled Receptor, and Transporter categories) with score 8.7.

Diagnosis

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

Prognosis

Phenotype severity distribution: 9 very common features, 1 common feature.

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 GHSR deficiency.

19 publications have been identified in PubMed for short stature due to GHSR deficiency. Research spans Case Report / Case Series (37%), Clinical Trial Publication (21%), and Basic Science / Preclinical (16%).

Research Type	Count	% of Total
Patient case studies	7	37%

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 4:51 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:615925

Orphanet

European rare disease database

Orphanet:314811

GARD

Genetic and Rare Diseases Info Center

GARD:17436

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

← Back to All Diseases

Kisho

short stature due to GHSR deficiency

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

short stature due to GHSR deficiency

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications