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Start free with EleplanObesity due to leptin receptor gene deficiency
ORPHA:179494Etiological subtype
What it is
A rare, genetic, non-syndromic, obesity disease characterized by severe, early-onset obesity, associated with major hyperphagia and endocrine abnormalities, resulting from leptin receptor deficiency.
Key facts
- Age of onset
- Childhood, Infancy
- Inheritance
- Autosomal recessive
- Classified as
- Etiological subtype
Signs and symptoms
Very common80–99%
12- Absence of secondary sex characteristics
- Decreased proportion of CD4-positive T cells
- Decreased serum estradiol
- Decreased serum testosterone concentration
- Decreased T cell activation
- Decreased testicular size
- Gynecomastia
- Hypergonadotropic hypogonadism
- Hyperinsulinemia
- Hypoplasia of the ovary
- Polyphagia
- Primary amenorrhea
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Gene
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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