ORPHA:179494
Obesity due to leptin receptor gene deficiency
- Type
- Etiological subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood, Infancy
- Status
- active
A rare, genetic, non-syndromic, obesity disease characterized by severe, early-onset obesity, associated with major hyperphagia and endocrine abnormalities, resulting from leptin receptor deficiency.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Obesity due to leptin receptor gene deficiency | |
| fr | Obésité par déficit en récepteur de la leptine | |
| de | Adipositas durch Leptin-Rezeptor-Genmutationen | |
| es | Obesidad por deficiencia del gen receptor de leptina | |
| it | Obesità da deficit del recettore della leptina | |
| nl | Obesitas door leptinereceptorgendeficiëntie | |
| pt | Obesidade por deficiência no gene do recetor da leptina | |
| pl | Otyłość z powodu niedoboru genu receptora dla leptyny | |
| cs | Obezita způsobená poruchou genu pro leptinový receptor | |
| uk | Ожиріння через дефіцит гена рецептора лептину | |
| zh | 瘦素受体基因缺陷所致肥胖 | |
| tr | Leptin reseptör gen eksikliğine bağlı obezite |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 614963 | E | validated | |
| ICD-10 | E66.8 | NTBT | attributed | validated |
| ICD-11 | 5B81.Y | NTBT | index | validated |
| MONDO | 0013992 | E | validated | |
| UMLS | C5191640 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:181390Endocrinopathy with congenital hypogonadotropic hypogonadism as a major feature
rare genetic diseases; rare endocrine diseases; rare infertility disorders; rare gynecological and obstetric diseases - ORPHA:179490Obesity due to congenital leptin resistance
rare genetic diseases; rare endocrine diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| LEPR | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:6554 | ENSG00000116678 | 601007 | 1p31.3 | leptin receptor | 9537324[PMID]_17229951[PMID] |
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
6
HPO phenotypes
21 annotations · validated 2017-02-20| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0003292 | Decreased serum leptin | |
| HP:0001513 | Obesity | |
| Very frequent (99-80%) | ||
| HP:0008187 | Absence of secondary sex characteristics | |
| HP:0005419 | Decreased T cell activation | |
| HP:0032218 | Decreased proportion of CD4-positive T cells | |
| HP:0008214 | Decreased serum estradiol | |
| HP:0040171 | Decreased serum testosterone concentration | |
| HP:0008734 | Decreased testicular size | |
| HP:0000771 | Gynecomastia | |
| HP:0000815 | Hypergonadotropic hypogonadism | |
| HP:0000842 | Hyperinsulinemia | |
| HP:0008724 | Hypoplasia of the ovary | |
| HP:0002591 | Polyphagia | |
| HP:0000786 | Primary amenorrhea | |
| Frequent (79-30%) | ||
| HP:0005616 | Accelerated skeletal maturation | |
| HP:0000712 | Emotional lability | |
| HP:0002155 | Hypertriglyceridemia | |
| HP:0000831 | Insulin-resistant diabetes mellitus | |
| HP:0004926 | Orthostatic hypotension due to autonomic dysfunction | |
| HP:0008245 | Pituitary hypothyroidism | |
| HP:0002788 | Recurrent upper respiratory tract infections | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 17229951[PMID]_9537324[PMID]_10486419[PMID]_9202122[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/179494
- This record as JSON: /data/d/179494.json