obesity due to leptin receptor gene deficiency
ORPHA: 179494
Overview
human disease
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with obesity due to leptin receptor gene deficiency, sourced from HPO and Orphanet clinical annotations.
ObesityDecreased serum leptinGynecomastiaPrimary amenorrheaHypergonadotropic hypogonadismHyperinsulinemiaPolyphagiaDecreased T cell activationAbsence of secondary sex characteristicsDecreased serum estradiolHypoplasia of the ovaryDecreased testicular sizeDecreased CD4+ T cell proportionDecreased serum testosterone concentrationEmotional labilityInsulin-resistant diabetes mellitusHypertriglyceridemiaRecurrent upper respiratory tract infectionsOrthostatic hypotension due to autonomic dysfunctionAccelerated skeletal maturationPituitary hypothyroidism
Classification & Codes
Orphanet Code
ORPHA:179494obesity due to leptin receptor gene deficiency
| Orphanet | ORPHA:179494 |
| Treatments | 0 drug(s) |
| Symptoms on record | 21 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO