raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:650087

Primary central precocious puberty in male

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

Type
Disease
Group
Disorder
Inheritance
Autosomal recessive, Not applicable
Status
active

Orphadata ships no English definition for this code.

1

Names in Orphadata languages

10 of 12 languages
LangNameSynonyms
enPrimary central precocious puberty in malePrimary CPP in boy · Primary CPP in male · Primary central precocious puberty in boy
frPuberté précoce centrale primaire de l'hommePuberté précoce centrale primaire du garçon
dePrimäre zentrale vorzeitige Pubertät bei JungenPrimäre CPP bei Jungen · Primäre zentrale Pubertas praecox, männliche Form
esPubertad precoz central primaria en el varónPPC primaria en el varón · Pubertad precoz central primaria en el niño
itPubertà maschile precoce centrale primariaCPP maschile primaria · Pubertà precoce centrale primaria nel ragazzo
nlPrimaire centrale pubertas praecox bij manPrimaire CPP bij jongen · Primaire CPP bij man · Primaire centrale pubertas praecox bij jongen · Primaire centrale vroegtijdige puberteit bij man
ptPuberdade precoce central primária no indivíduo masculinoCPP primária no indivíduo masculino · Puberdade precoce central primária nos rapazes
plPierwotne przedwczesne dojrzewanie płciowe pochodzenia ośrodkowego u mężczyzny= en
csPrimární centrální předčasná puberta u mužů= en
ukПервинне центральне передчасне статеве дозрівання у хлопчиківПервинне центральне передчасне статеве дозрівання у хлопчика · Первинне CPP у хлопчика · Первинне CPP у чоловіків
2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
ICD-10E22.8NTBTspecificvalidated
ICD-115A60.3NTBTattributedvalidated
MONDO0958356Evalidated
MONDO958356Evalidated
UMLSC5816763Evalidated

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

3

Classification

Preferential parent (Orphanet linearisation):

Parents in the classifications (1):

Children (2):

4

Genes

0 direct · 4 via subtypes

Orphanet records no gene directly on this code.

Recorded by Orphanet on subtypes of this disorder:

GeneSubtypeAssociationStatusHGNCEnsemblOMIMLocusNameSource of validation
DLK1ORPHA:650097Genetic central precocious puberty in maleDisease-causing germline mutation(s) inAssessedHGNC:2907ENSG0000018555917629014q32.2delta like non-canonical Notch ligand 130733078[PMID]
KISS1ORPHA:650097Genetic central precocious puberty in maleDisease-causing germline mutation(s) inAssessedHGNC:6341ENSG000001704986032861q32.1KiSS-1 metastasis suppressor20237166[PMID]
KISS1RORPHA:650097Genetic central precocious puberty in maleDisease-causing germline mutation(s) inAssessedHGNC:4510ENSG0000011601460416119p13.3KISS1 receptor32228714[PMID]
MKRN3ORPHA:650097Genetic central precocious puberty in maleDisease-causing germline mutation(s) inAssessedHGNC:7114ENSG0000017945560385615q11.2makorin ring finger protein 323738509[PMID]
5

Prevalence and incidence

0 records

No prevalence record in this release.

6

HPO phenotypes

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

7

Sources for this card