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inherited obesity - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

inherited obesity

MONDO:0019182

Also known as:genetic obesitygenetic obesity (disease)leanness, inherited, autosomal recessive

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Overview

GeneticsAutosomal recessive, Polygenic (multifactorial), Autosomal dominant · 2 genes (NR0B2, PPARG)

OnsetINFANTILE, CHILDHOOD

Clinical Trials2 registered · 1 recruiting

Clinical Presentation

Features include: Decreased resting energy expenditure, Increased waist to hip ratio, and Obesity.

Age of onset: infancy, childhood.

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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.

NR0B2

NR0B2 encodes nuclear receptor subfamily 0 group B member 2 (257 aa). Transcriptional regulator that acts as a negative regulator of receptor-dependent signaling pathways. Specifically inhibits transactivation of the nuclear receptor with which it interacts. Highest expression in Liver (74.6 TPM) and Stomach (25.7 TPM).

Inherited obesity is associated with mutations in the NR0B2 gene on chromosome 1.

NR0B2 is classified as a druggable target (Druggable Genome, Nuclear Hormone Receptor, and Transcription Factor categories) with score 0.0.

PPARG

PPARG function has not been fully characterized.

Inherited obesity is associated with mutations in the PPARG gene on chromosome 3.

Diagnosis

Genetic testing for NR0B2, PPARG is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for inherited obesity has been reported in the published literature.

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.

2 clinical trials registered, 1 recruiting. Interventions under study include drug therapy and other interventions. Pipeline includes 1 PHASE3. Research is sponsored by a mix of industry and academic institutions.

171 publications have been identified in PubMed for inherited obesity. Research spans Basic Science / Preclinical (36%), Review / Meta-Analysis (32%), and Epidemiology / Natural History (13%).

Research Type	Count	% of Total
Laboratory research	62

Data assembled from 7 of 12 sources · Last updated Sep 19, 2026, 12:50 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:601665

Orphanet

European rare disease database

Orphanet:77828

GARD

Genetic and Rare Diseases Info Center

GARD:18935

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are any of the 2 active clinical trials a good fit for my situation?
→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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inherited obesity

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

NR0B2

PPARG

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Recent Publications