obesity due to leptin receptor gene deficiency
MONDO:0013992Mondo
Findings
No curated finding names obesity due to leptin receptor gene deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
25 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal eating behaviorHPOHP:0100738
- 3 of 3 reported patients · Infantile onset
- Aggressive behaviorHPOHP:0000718
- 3 of 3 reported patients · Infantile onset
- Decreased serum leptinHPOHP:0003292
- Obligate (100% of cases)
- Delayed pubertyHPOHP:0000823
- 3 of 3 reported patients
- Emotional labilityHPOHP:0000712
- 3 of 3 reported patients
- Frequent (30% to 79% of cases)
- Hypergonadotropic hypogonadismHPOHP:0000815
- 3 of 3 reported patients
- Very frequent (80% to 99% of cases)
- ObesityHPOHP:0001513
- 3 of 3 reported patients · Infantile onset
- Obligate (100% of cases)
- Absence of secondary sex characteristicsHPOHP:0008187
- Very frequent (80% to 99% of cases)
- Decreased serum estradiolHPOHP:0008214
- Very frequent (80% to 99% of cases)
- Decreased serum testosterone concentrationHPOHP:0040171
- Very frequent (80% to 99% of cases)
- Decreased T cell activationHPOHP:0005419
- Very frequent (80% to 99% of cases)
- Decreased testicular sizeHPOHP:0008734
- Very frequent (80% to 99% of cases)
Show the remaining 13
- Decreased total CD4+ T cell proportionHPOHP:0032218
- Very frequent (80% to 99% of cases)
- GynecomastiaHPOHP:0000771
- Very frequent (80% to 99% of cases)
- HyperinsulinemiaHPOHP:0000842
- Very frequent (80% to 99% of cases)
- Hypoplasia of the ovaryHPOHP:0008724
- Very frequent (80% to 99% of cases)
- PolyphagiaHPOHP:0002591
- Very frequent (80% to 99% of cases)
- Primary amenorrheaHPOHP:0000786
- Very frequent (80% to 99% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- LEPRHGNC:6554
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
2 names
Resolves to: obesity due to leptin receptor gene deficiency
- Also called
- LEPR Deficiencyobesity, morbid, due to leptin receptor deficiency