Obesity due to leptin receptor gene deficiency
General Information (adopted from Orphanet):
| Synonyms, Signs: |
OBESITY, MORBID, NONSYNDROMIC 2 |
| Number of Symptoms | 9 |
| OrphanetNr: | 179494 |
| OMIM Id: |
614963
|
| ICD-10: |
E66.8 |
| UMLs: |
|
| MeSH: |
|
| MedDRA: |
|
| Snomed: |
|
Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
|
| Age of onset: |
|
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Hypogonadotropic hypogonadism associated with other endocrinopathies
-Rare endocrine disease -Rare genetic disease -Rare gynecologic or obstetric disease Obesity due to congenital leptin resistance -Rare endocrine disease -Rare genetic disease |
Symptom Information:
|
|
(HPO:0000815) | Hypergonadotropic hypogonadism | 48 / 7739 | ||||
|
|
(HPO:0002591) | Polyphagia | 25 / 7739 | ||||
|
|
(HPO:0000718) | Aggressive behavior | obligate [HPO:skoehler] | 109 / 7739 | |||
|
|
(HPO:0000824) | Growth hormone deficiency | 56 / 7739 | ||||
|
|
(HPO:0000823) | Delayed puberty | 65 / 7739 | ||||
|
|
(HPO:0008245) | Pituitary hypothyroidism | 4 / 7739 | ||||
|
|
(HPO:0001513) | Obesity | obligate [HPO:skoehler] | 172 / 7739 | |||
|
|
(HPO:0002958) | Immune dysregulation | 5 / 7739 | ||||
|
|
(HPO:0012286) | Abnormal hypothalamus morphology | obligate [HPO:skoehler] | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|
Additional Information:
| Clinical Description OMIM |
Clement et al. (1998) described a consanguineous family of Kabylian (Berber of northern Algeria) origin in which 3 of 9 sibs had morbid obesity with onset in early childhood. The affected sisters had normal birth weights, but developed ... |
| Molecular genetics OMIM |
In 3 morbidly obese sisters from a consanguineous Berber family, Clement et al. (1998) found homozygosity for a mutation in the LEPR gene, a G-to-A transition at the +1 position of intron 16 (601007.0002). To determine ... |