Obesity due to leptin receptor gene deficiency: genes and variants
Obesity due to leptin receptor gene deficiency is linked to 1 analyzed protein (LEPR). 2 DNA variants are known to cause it; 28 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 leptin receptor gene deficiency
LEPR: Leptin receptor
It transmits leptin signals to hypothalamic circuits that regulate appetite, body weight, endocrine axes, and energy expenditure. Biallelic loss-of-function variants cause severe early-onset obesity with intense hyperphagia and frequently hypogonadotropic hypogonadism.
2 disease-causing and 28 uncertain variants in LEPR are linked to Obesity due to leptin receptor gene deficiency.
Known disease-causing variants in Obesity due to leptin receptor gene deficiency
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| LEPR R612H | 612 | Fibronectin type-III 2 | Disease-causing (★★) |
| LEPR Y155S | 155 | Extracellular | Disease-causing |
Diseases related to Obesity due to leptin receptor gene deficiency
- Monogenic diabetes, also linked to LEPR
- Type 2 diabetes mellitus, also linked to LEPR
Frequently asked questions
Which genes are linked to Obesity due to leptin receptor gene deficiency?
In CATVariant, Obesity due to leptin receptor gene deficiency is linked to 1 analyzed protein: LEPR (Leptin receptor).
How many genetic variants are linked to Obesity due to leptin receptor gene deficiency?
35 variants: 2 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 28 are of uncertain significance or have conflicting reports.
Which uncertain variants in Obesity due to leptin receptor gene 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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