ORPHA:397615
Obesity due to CEP19 deficiency
- Type
- Etiological subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- active
A rare, genetic form of obesity characterized by morbid obesity, hypertension, type 2 diabetes mellitus and dyslipidemia leading to early coronary disease, myocardial infarction and congestive heart failure. Intellectual disability and decreased sperm counts or azoospermia have also been reported.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Obesity due to CEP19 deficiency | |
| fr | Obésité par déficit en CEP19 | |
| de | Adipositas durch CEP19-Mangel | |
| es | Obesidad por deficiencia de CEP19 | |
| it | Obesità da deficit di CEP19 | |
| nl | Obesitas door CEP19-deficiëntie | |
| pt | Obesidade por défice de CEP19 | |
| pl | Otyłość z powodu niedoboru CEP19 | |
| cs | Obezita způsobená deficitem CEP19 | |
| uk | Ожиріння, зумовлене дефіцитом CEP19 | |
| zh | CEP19基因缺陷所致肥胖 | |
| tr | CEP19 eksikliğine bağlı obezite |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615703 | E | validated | |
| ICD-10 | E66.8 | NTBT | attributed | validated |
| ICD-11 | 5B81.Y | NTBT | attributed | validated |
| MONDO | 0014309 | E | validated | |
| UMLS | C5190985 | 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 (1):
- 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 |
|---|---|---|---|---|---|---|---|---|
| CEP19 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:28209 | ENSG00000174007 | 615586 | 3q29 | centrosomal protein 19 | 24268657[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 15 cases | Worldwide | Case(s) | Validated | 24268657[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_24268657[PMID] |
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
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/397615
- This record as JSON: /data/d/397615.json