obesity due to congenital leptin deficiency
Findings
No curated finding names obesity due to congenital leptin deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Congenital leptin deficiency is a form of monogenic obesity characterized by severe early-onset obesity and marked hyperphagia.
Definition from the Mondo Disease Ontology (MONDO:0013991), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Childhood onset
HPO, annotations 2026-09-02
Features
20 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.
- Decreased serum leptinHPOHP:0003292
- 2 of 2 reported patients
- Obligate (100% of cases)
- ObesityHPOHP:0001513
- 2 of 2 reported patients · Childhood onset
- Obligate (100% of cases)
- PolyphagiaHPOHP:0002591
- 2 of 2 reported patients
- Very frequent (80% to 99% 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
Show the remaining 8
- Hypoplasia of the ovaryHPOHP:0008724
- Very frequent (80% to 99% of cases)
- Primary amenorrheaHPOHP:0000786
- Very frequent (80% to 99% of cases)
- Accelerated skeletal maturationHPOHP:0005616
- Frequent (30% to 79% of cases)
- HypertriglyceridemiaHPOHP:0002155
- Frequent (30% to 79% of cases)
- Insulin-resistant diabetes mellitusHPOHP:0000831
- Frequent (30% to 79% of cases)
- Orthostatic hypotension due to autonomic dysfunctionHPOHP:0004926
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.
- LEPHGNC:6553
- Definitive · Ambry Genetics · Autosomal recessive · 2024
- 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 congenital leptin deficiency
- Also called
- Congenital Leptin Deficiencyobesity, morbid, due to leptin deficiency