Genetic non-syndromic obesity
Synonyms: Monogenic obesity due to a leptin-melanocortin pathway anomaly
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Childhood, Infancy
- Status
- active
A rare genetic disease characterized by early-onset severe obesity due to mutations in single genes acting on the development and function of the hypothalamus or the leptin-melanocortin pathway, leading to disruption of energy homeostasis and endocrine dysfunction. Patients present with a body mass index over three standard deviations above normal at less than five years of age, accompanied by a variety of signs and symptoms according to the mutated gene, including hyperphagia, insulin resistance, reduced basal metabolic rate, or hypogonadism, among others.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Genetic non-syndromic obesity | Monogenic obesity due to a leptin-melanocortin pathway anomaly |
| fr | Obésité non syndromique génétique | Obésité monogénique due à une anomalie de la voie leptine-mélanocortine |
| de | Adipositas, genetisch-bedingte nicht-syndromale | Monogenetische Adipositas durch Störung des Leptin-Melanocortin-Signalweges |
| es | Obesidad genética no sindrómica | Obesidad monogénica por una anomalía en la vía leptina-melanocortina |
| it | Obesità genetica non sindromica | Obesità monogenica da anomalia del percorso leptina-melanocortina |
| nl | Genetische niet-syndromale obesitas | Monogene obesitas als gevolg van een leptine-melanocortinepathway-anomalie |
| pt | Obesidade monogénica por anomalia da via leptina-melanocortina | |
| pl | Otyłość niesyndromiczna uwarunkowana genetycznie | Otyłość monogenowa z powodu anomalii szlaku leptyna-monokortyna |
| cs | Geneticky podmíněné nesyndromické obezity | Monogenní obezity způsobené anomálií signální dráhy leptin-melanokortin |
| uk | Генетично обумовлене несиндромне ожиріння | Моногенне ожиріння внаслідок аномалії лептин-меланокортинового шляху |
| zh | 遗传性非综合征型肥胖 | 瘦素-黑皮质素通路异常所致单基因性肥胖 |
| tr | Genetik sendromik olmayan obezite | Bir leptin-melanokortin yolu anomalisine bağlı monojenik obezite |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | E66.8 | NTBT | attributed | validated |
| ICD-11 | 5B81.Y | NTBT | attributed | validated |
| MONDO | 0020075 | E | validated | |
| UMLS | C5680229 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:77828Genetic obesity
rare genetic diseases; rare endocrine diseases
Genes
0 direct · 4 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| CEP19 | ORPHA:397615Obesity due to CEP19 deficiency | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:28209 | ENSG00000174007 | 615586 | 3q29 | centrosomal protein 19 | 24268657[PMID] |
| SH2B1 | ORPHA:329249Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:30417 | ENSG00000178188 | 608937 | 16p11.2 | SH2B adaptor protein 1 | 23160192[PMID] |
| SIM1 | ORPHA:369873Obesity due to SIM1 deficiency | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:10882 | ENSG00000112246 | 603128 | 6q16.3 | SIM bHLH transcription factor 1 | 23778136[PMID]_23778139[PMID] |
| LEP | ORPHA:66628Obesity due to congenital leptin deficiency | Disease-causing germline mutation(s) in | Assessed | HGNC:6553 | ENSG00000174697 | 164160 | 7q32.1 | leptin | 26567097[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET |
| Annual incidence | Unknown | — | 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.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/98267
- This record as JSON: /data/d/98267.json