ORPHA:650077
Genetic central precocious puberty in female
Synonyms: Genetic CPP in female · Genetic CPP in girl · Genetic central precocious puberty in girl
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Status
- active
Orphadata ships no English definition for this code.
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Names in Orphadata languages
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Genetic central precocious puberty in female | Genetic CPP in female · Genetic CPP in girl · Genetic central precocious puberty in girl |
| fr | Puberté précoce centrale génétique de la femme | Puberté précoce centrale génétique de la fille |
| de | Genetisch bedingte zentrale vorzeitige Pubertät bei Mädchen | Genetische CPP bei Mädchen |
| es | Pubertad precoz central genética en la mujer | PPC genética en la mujer · PPC genética en la niña · Pubertad precoz central genética en la niña |
| it | Pubertà femminile precoce centrale genetica | CPP genetica femminile · CPP genetica nella ragazza · Pubertà precoce centrale rara nella ragazza |
| nl | Genetische centrale pubertas praecox bij vrouw | Genetische CPP bij meisje · Genetische CPP bij vrouw · Genetische centrale pubertas praecox bij meisje · Genetische centrale vroegtijdige puberteit bij vrouw |
| pt | Puberdade precoce central genética no indivíduo feminino | CPP genética nas raparigas · CPP genética no indivíduo feminino · Puberdade precoce central genética nas raparigas |
| pl | Genetycznie uwarunkowane przedwczesne dojrzewanie płciowe pochodzenia ośrodkowego u kobiety | = en |
| cs | Genetická centrální předčasná puberta u žen | = en |
| uk | Генетично обумовлене центральне передчасне статеве дозрівання у дівчат | Генетично обумовлене центральне передчасне статеве дозрівання у дівчаток · Генетичне CPP у жінок · Генетичне CPP у дівчинки |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615346 | NTBT | validated | |
| ICD-10 | E22.8 | NTBT | specific | validated |
| MONDO | 0958354 | E | validated | |
| MONDO | 958354 | E | validated | |
| UMLS | C5816765 | 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:650182Genetic central precocious puberty
rare genetic diseases - ORPHA:650070Rare central precocious puberty in female
rare endocrine diseases; rare gynecological and obstetric diseases
No children.
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Genes
3 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| DLK1 | Disease-causing germline mutation(s) in | Assessed | HGNC:2907 | ENSG00000185559 | 176290 | 14q32.2 | delta like non-canonical Notch ligand 1 | 30733078[PMID] |
| KISS1R | Disease-causing germline mutation(s) in | Assessed | HGNC:4510 | ENSG00000116014 | 604161 | 19p13.3 | KISS1 receptor | 32228714[PMID] |
| MKRN3 | Disease-causing germline mutation(s) in | Assessed | HGNC:7114 | ENSG00000179455 | 603856 | 15q11.2 | makorin ring finger protein 3 | 23738509[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 3 / 100 000 | Europe | Value and class | Validated | 38857188[PMID]_ORPHANET |
| Point prevalence | 1-9 / 100 000 | 7.8 / 100 000 | Korea, Democratic People's Republic of | Value and class | Validated | 38857188[PMID]_26539988[PMID]_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
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/650077
- This record as JSON: /data/d/650077.json