ORPHA:650097

Genetic central precocious puberty in male

Synonyms: Genetic CPP in boy · Genetic CPP in male · Genetic central precocious puberty in boy

Orphadata ships no English definition for this code.

Names in Orphadata languages

10 of 12 languages

Lang	Name	Synonyms
en	Genetic central precocious puberty in male	Genetic CPP in boy · Genetic CPP in male · Genetic central precocious puberty in boy
fr	Puberté précoce centrale génétique de l'homme	Puberté précoce centrale génétique du garçon
de	Genetisch bedingte zentrale vorzeitige Pubertät bei Jungen	Genetische CPP bei Jungen
es	Pubertad precoz central genética en el varón	PPC genética en el niño · PPC genética en el varón
it	Pubertà maschile precoce centrale genetica	CPP genetica nel ragazzo · CPP maschile genetica
nl	Genetische centrale pubertas praecox bij man	Genetische CPP bij jongen · Genetische CPP bij man · Genetische centrale pubertas praecox bij jongen · Genetische centrale vroegtijdige puberteit bij man
pt	Puberdade precoce central genética no indivíduo masculino	CPP genética no indivíduo masculino · CPP genética nos rapazes
pl	Genetycznie uwarunkowane przedwczesne dojrzewanie płciowe pochodzenia ośrodkowego u mężczyzny	= en
cs	Genetická centrální předčasná puberta u mužů	= en
uk	Генетично обумовлене центральне передчасне статеве дозрівання у хлопчиків	Генетичне центральне передчасне статеве дозрівання у хлопчика · Генетичне CPP у хлопчика · Генетичне CPP у чоловіків

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	176400	NTBT		validated
OMIM	615346	NTBT		validated
ICD-10	E22.8	NTBT	attributed	validated
MONDO	0968990	E		validated
UMLS	C5816761	E		validated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

Preferential parent (Orphanet linearisation):

Parents in the classifications (2):

No children.

4 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]
KISS1	Disease-causing germline mutation(s) in	Assessed	HGNC:6341	ENSG00000170498	603286	1q32.1	KiSS-1 metastasis suppressor	20237166[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]

0 records

No prevalence record in this release.

Orphanet has no HPO annotation for this code in this release.