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growth hormone insensitivity with immune dysregulation 1, autosomal recessive - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

growth hormone insensitivity with immune dysregulation 1, autosomal recessive

MONDO:0100211

Also known as:Laron syndrome due to postreceptor defectLaron syndrome with immunodeficiencyLaron-like syndrome

Overview

GeneticsAutosomal recessive · STAT5B (chr 17)

OnsetCHILDHOOD, INFANTILE

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 always present findings: Severe short stature, Lymphocytic interstitial pneumonia, Respiratory distress, and Failure to thrive and others.

Organ System	Phenotype Count	Example Features
Growth and development	3	Severe short stature, Failure to thrive, Decreased response to growth hormone stimulation test

Genetic Landscape

STAT5B function has not been fully characterized.

Growth hormone insensitivity with immune dysregulation 1, autosomal recessive is caused by mutations in the STAT5B gene on chromosome 17.

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

Genetic testing for STAT5B is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for growth hormone insensitivity with immune dysregulation 1, autosomal recessive has been reported in the published literature.

Prognosis

Phenotype severity distribution: 8 always present features.

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 growth hormone insensitivity with immune dysregulation 1, autosomal recessive.

104 publications have been identified in PubMed for growth hormone insensitivity with immune dysregulation 1, autosomal recessive. Research spans Review / Meta-Analysis (70%), Basic Science / Preclinical (17%), and Epidemiology / Natural History (5%).

Research Type	Count	% of Total
Research summaries	60	70%

Data assembled from 7 of 12 sources · Last updated Sep 20, 2026, 5:40 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:245590

Orphanet

European rare disease database

Orphanet:220465

GARD

Genetic and Rare Diseases Info Center

GARD:18311

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?

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Kisho

growth hormone insensitivity with immune dysregulation 1, autosomal recessive

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

growth hormone insensitivity with immune dysregulation 1, autosomal recessive

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