Central precocious puberty
General Information (adopted from Orphanet):
Synonyms, Signs: |
Gonadotropin-dependant precocious puberty |
Number of Symptoms | 6 |
OrphanetNr: | 759 |
OMIM Id: |
176400
615346 |
ICD-10: |
E22.8 |
UMLs: |
C0342543 |
MeSH: |
|
MedDRA: |
|
Snomed: |
237816004 |
Prevalence, inheritance and age of onset:
Prevalence: | No data available. |
Inheritance: |
Autosomal dominant Not applicable [Orphanet] |
Age of onset: |
Infancy Childhood [Orphanet] |
Disease classification (adopted from Orphanet):
Parent Diseases: |
Precocious puberty
-Rare endocrine disease -Rare gynecologic or obstetric disease |
Symptom Information:
|
(HPO:0008236) | Isosexual precocious puberty | 2 / 7739 | ||||
|
(HPO:0011969) | Elevated luteinizing hormone | 6 / 7739 | ||||
|
(HPO:0008232) | Elevated follicle stimulating hormone | 8 / 7739 | ||||
|
(HPO:0000821) | Hypothyroidism | Occasional [HPO:skoehler] | 141 / 7739 | |||
|
(HPO:0004322) | Short stature | 1232 / 7739 | ||||
|
(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 |
Associated genes:
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
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