HYPERPROLACTINEMIA

General Information (adopted from Orphanet):

Synonyms, Signs: HPRL
Number of Symptoms 7
OrphanetNr:
OMIM Id: 615555
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000132) Menorrhagia rare [HPO:skoehler] 40 / 7739
2
(HPO:0000876) Oligomenorrhea rare [HPO:skoehler] 13 / 7739
3
(HPO:0000789) Infertility rare [HPO:skoehler] 74 / 7739
4
(HPO:0000870) Prolactin excess 10 / 7739
5
(HPO:0100829) Galactorrhea rare [HPO:skoehler] 7 / 7739
6
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
7
(OMIM) Elevated prolactin levels 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Hyperprolactinemia unrelated to pregnancy occurs in approximately 0.1 to 0.3% of the general population and may result in infertility, hypogonadism, and galactorrhea. Such nonphysiologic hyperprolactinemia is caused mainly by drugs or by tumors in the anterior pituitary gland, ...
Clinical Description OMIM Newey et al. (2013) studied 3 sisters with familial idiopathic hyperprolactinemia. The proband was a 41-year-old woman with a 2-year history of oligomenorrhea and menorrhagia who was found to have hyperprolactinemia. Between age 18 and 31 years, she ...
Molecular genetics OMIM In the proband of a 3-generation family segregating autosomal dominant hyperprolactinemia, who was known to be negative for mutation in the MEN1 (613733), AIP (605555), and PRL (176760) genes, Newey et al. (2013) identified heterozygosity for a missense ...