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obesity due to congenital leptin deficiency - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

obesity due to congenital leptin deficiency

MONDO:0013991

Also known as:Congenital Leptin Deficiencyobesity, morbid, due to leptin deficiencyLEPD

Find Clinical TrialsTrials

Overview

Congenital leptin deficiency is a form of monogenic obesity characterized by severe early-onset obesity and marked hyperphagia.

GeneticsAutosomal recessive · LEP (chr 7)

OnsetCHILDHOOD

Clinical Trials1 registered

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: Excessive hunger (polyphagia), Decreased serum leptin, and Obesity. 11 total HPO annotations.

Organ System	Phenotype Count	Example Features
Lungs and breathing	2	Recurrent pneumonia, Recurrent upper respiratory tract infections

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.

LEP encodes leptin (167 aa). Key player in the regulation of energy balance and body weight control. Highest expression in Adipose Subcutaneous (198.8 TPM) and Adipose Visceral Omentum (55.4 TPM).

Obesity due to congenital leptin deficiency is associated with mutations in the LEP gene on chromosome 7.

The LEP protein participates in Expression of Leptin pathway.

LEP is classified as a druggable target (Druggable Genome, Hormone Activity, and Tumor Suppressor categories) with score 1.5.

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 LEP is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for obesity due to congenital leptin deficiency has been reported in the published literature.

Prognosis

Phenotype severity distribution: 3 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.

1 clinical trial registered. Pipeline includes 1 PHASE3.

159 publications have been identified in PubMed for obesity due to congenital leptin deficiency. Research spans Basic Science / Preclinical (42%), Review / Meta-Analysis (41%), and Clinical Trial Publication (5%).

Research Type	Count	% of Total
Laboratory research	66	42%

Data assembled from 7 of 12 sources · Last updated Sep 20, 2026, 12:43 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:614962

Orphanet

European rare disease database

Orphanet:66628

GARD

Genetic and Rare Diseases Info Center

GARD:13015

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 1 active clinical trial 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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Kisho

obesity due to congenital leptin 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

obesity due to congenital leptin 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