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severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency

MONDO:0017994

Overview

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: Reduced social responsiveness, Hyperinsulinemia, Obesity, and Excessive hunger (polyphagia) and others; and common findings: Aggressive behavior, Delayed speech and language development, and No social interaction.

Organ System	Phenotype Count	Example Features
Brain and nerves	2	Aggressive behavior, Delayed speech and language development

Prognosis

Phenotype severity distribution: 5 very common features, 3 common 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 severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency.

3 publications have been identified in PubMed for severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency. Research spans Review / Meta-Analysis (67%) and Case Report / Case Series (33%).

Recent Publications

Golounina O (2025). [PMID: 39944202](https://pubmed.ncbi.nlm.nih.gov/39944202/). *Front Endocrinol (Lausanne)*. [Review / Meta-Analysis]
Saeed S (2025). [PMID: 39237720](https://pubmed.ncbi.nlm.nih.gov/39237720/). *Mol Psychiatry*. [Review / Meta-Analysis]
Politei JM (2024). [PMID: 39284294](https://pubmed.ncbi.nlm.nih.gov/39284294/). *Obes Facts*. [Case Report / Case Series]

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 9:36 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:329249

GARD

Genetic and Rare Diseases Info Center

GARD:21486

Questions for Your Care Team

→Are there specialists or centers of excellence for this condition in my area?
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severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency

Overview

Clinical Presentation

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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