ORPHA:66628
Obesity due to congenital leptin deficiency
- Type
- Etiological subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- active
Congenital leptin deficiency is a form of monogenic obesity characterised by severe early-onset obesity and marked hyperphagia.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Obesity due to congenital leptin deficiency | |
| fr | Obésité par déficit congénital en leptine | |
| de | Adipositas durch angeborenen Leptinmangel | Leptinmangel, kongenitaler |
| es | Obesidad por deficiencia congénita de leptina | |
| it | Obesità da deficit congenito di leptina | |
| nl | Obesitas door congenitale deficiëntie van leptine | |
| pt | Obesidade por deficiência de leptina congénita | |
| pl | Otyłość spowodowana wrodzonym niedoborem leptyny | |
| cs | Obezita způsobená vrozeným nedostatkem leptinu | |
| uk | Ожиріння через вроджений дефіцит лептину | |
| zh | 先天性瘦素缺乏所致肥胖症 | |
| tr | Letal leptin eksikliğine bağlı obezite |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 614962 | E | validated | |
| ICD-10 | E66.8 | NTBT | attributed | validated |
| ICD-11 | 5B81.Y | NTBT | index | validated |
| MONDO | 0013991 | E | validated | |
| UMLS | C3554224 | E | validated | |
| GARD | 13015 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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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:98267Genetic non-syndromic obesity
rare genetic diseases; rare endocrine diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| LEP | Disease-causing germline mutation(s) in | Assessed | HGNC:6553 | ENSG00000174697 | 164160 | 7q32.1 | leptin | 26567097[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 30 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
20 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: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: 10486419[PMID]_9202122[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/66628
- This record as JSON: /data/d/66628.json