Search for a rare disease
Other search option(s)
Obesity due to leptin receptor gene deficiency
Disease definition
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.
ORPHA:179494
Classification level: Subtype of disorderA summary on this disease is available in Deutsch (2019) Español (2019) Français (2019) Italiano (2019) Nederlands (2019)
Detailed information
Guidelines
- Clinical practice guidelines
- Français (2021) - PNDS
Genetic Testing
- Guidance for genetic testing
- Français (2016, pdf) - ANPGM


Additional information
Further information on this disease
Patient-centred resources for this disease
Research activities on this disease
Specialised Social Services
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.