Obesity due to melanocortin 4 receptor deficiency
Synonyms: MC4R deficiency
- Type
- Etiological subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Melanocortin 4 receptor (MC4R) deficiency is the commonest form of monogenic obesity identified so far. MC4R deficiency is characterised by severe obesity, an increase in lean body mass and bone mineral density, increased linear growth in early childhood, hyperphagia beginning in the first year of life and severe hyperinsulinaemia, in the presence of preserved reproductive function.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Obesity due to melanocortin 4 receptor deficiency | MC4R deficiency |
| fr | Obésité par déficit du récepteur de la mélanocortine 4 | Déficit en MC4R |
| de | Adipositas durch Melanokortin-4 Rezeptor-Mangel | MC4R-Mangel |
| es | Obesidad por deficiencia del receptor de melanocortina-4 | Deficiencia de MC4R |
| it | Obesità da deficit del recettore della melanocortina 4 | Deficit di MC4R |
| nl | Obesitas door deficiëntie van melanocortine 4-receptor | MC4R-deficiëntie |
| pt | Obesidade por deficiência de recetores da melacortina-4 | Deficiência de MC4R |
| pl | Otyłość spowodowana niedoborem receptora melanokortyny 4 | Niedobór MC4R |
| cs | Obezita způsobená deficitem receptoru pro melanokortin 4 | Deficit MC4R |
| uk | Ожиріння через дефіцит рецепторів меланокортину 4 | Дефіцит MC4R |
| zh | 黑皮素4受体缺乏所致肥胖症 | MC4R缺乏 |
| tr | Melanokortin 4 reseptör eksikliğine bağlı obezite | MC4R eksikliği |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 601665 | NTBT | validated | |
| OMIM | 618406 | NTBT | validated | |
| ICD-10 | E66.8 | NTBT | attributed | validated |
| ICD-11 | 5B81.Y | NTBT | index | validated |
| MONDO | 0019115 | E | validated | |
| UMLS | C4273958 | 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:179490Obesity due to congenital leptin resistance
rare genetic diseases; rare endocrine diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MC4R | Disease-causing germline mutation(s) in | Assessed | HGNC:6932 | ENSG00000166603 | 155541 | 18q21.32 | melanocortin 4 receptor | 10903343[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-5 / 10 000 | 50 / 100 000 | France | Value and class | Validated | [EXPERT] |
| Point prevalence | 1-5 / 10 000 | — | Europe | Class only | Not yet 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
10 annotations · validated 2017-02-22| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0009126 | Increased adipose tissue | |
| HP:0001513 | Obesity | |
| Very frequent (99-80%) | ||
| HP:0002591 | Polyphagia | |
| Frequent (79-30%) | ||
| HP:0005616 | Accelerated skeletal maturation | |
| HP:0008915 | Childhood-onset truncal obesity | |
| Occasional (29-5%) | ||
| HP:0000956 | Acanthosis nigricans | |
| HP:0000842 | Hyperinsulinemia | |
| HP:0000822 | Hypertension | |
| HP:0002155 | Hypertriglyceridemia | |
| HP:0005978 | Type II diabetes mellitus | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 9771698[PMID]_15703762[PMID]_11443223[PMID]_14764818[PMID]_9771698[PMID]_15486053[PMID]_15126516[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/71529
- This record as JSON: /data/d/71529.json