Obesity due to congenital leptin deficiency

General Information (adopted from Orphanet):

Synonyms, Signs: OBESITY, MORBID, NONSYNDROMIC 1
LEPD
Number of Symptoms 10
OrphanetNr: 66628
OMIM Id: 614962
ICD-10: E66.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: < 30 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Hypogonadotropic hypogonadism associated with other endocrinopathies
 -Rare endocrine disease
 -Rare genetic disease
 -Rare gynecologic or obstetric disease
Nonsyndromic obesity
 -Rare endocrine disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
(HPO:0000135) Hypogonadism 89 / 7739
2
(HPO:0000786) Primary amenorrhea 61 / 7739
3
(HPO:0008734) Decreased testicular size 105 / 7739
4
(HPO:0000054) Micropenis 257 / 7739
5
(HPO:0002788) Recurrent upper respiratory tract infections 31 / 7739
6
(HPO:0002591) Polyphagia 25 / 7739
7
(HPO:0000771) Gynecomastia 53 / 7739
8
(HPO:0003292) Decreased serum leptin 3 / 7739
9
(HPO:0001513) Obesity obligate [HPO:skoehler] 172 / 7739
10
(HPO:0006532) Recurrent pneumonia 48 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Montague et al. (1997) described 2 morbidly obese cousins, an 8-year-old girl and a 2-year-old boy, from an inbred Pakistani kindred. Although of normal weight at birth, both children suffered from severe, intractable obesity from an early age. ...
Molecular genetics OMIM In an inbred Pakistani kindred, Montague et al. (1997) found that 2 morbidly obese cousins, an 8-year-old girl and a 2-year-old boy, had a deletion of a guanine nucleotide in the leptin gene: there were 5 rather than ...