Obesity due to congenital leptin deficiency: genes and variants
Obesity due to congenital leptin deficiency is linked to 1 analyzed protein (LEP). 4 DNA variants are known to cause it; 5 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to Obesity due to congenital leptin deficiency
LEP: Leptin
It signals nutritional energy stores to the hypothalamus and suppresses appetite while supporting normal endocrine and immune function. Biallelic loss-of-function variants cause severe early-onset obesity with hyperphagia and can impair pubertal development and immunity.
4 disease-causing and 5 uncertain variants in LEP are linked to Obesity due to congenital leptin deficiency.
Known disease-causing variants in Obesity due to congenital leptin deficiency
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| LEP L154P | 154 | Disease-causing (★) | |
| LEP G59S | 59 | Disease-causing (★) | |
| LEP P64S | 64 | Disease-causing (★) | |
| LEP R105W | 105 | Disease-causing |
Frequently asked questions
Which genes are linked to Obesity due to congenital leptin deficiency?
In CATVariant, Obesity due to congenital leptin deficiency is linked to 1 analyzed protein: LEP (Leptin).
How many genetic variants are linked to Obesity due to congenital leptin deficiency?
11 variants: 4 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 5 are of uncertain significance or have conflicting reports.
Which uncertain variants in Obesity due to congenital leptin deficiency look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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