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familial hyperprolactinemia

^ http://purl.obolibrary.org/obo/MONDO_0014250

Familial hyperprolactinemia is a rare, genetic endocrine disorder characterized by persistently high prolactin serum levels (not associated with gestation, puerperium, drug intake or pituitary tumor) in multiple affected family members. Clinically it manifests with signs usually observed in hyperprolactinemia, which are: secondary medroxyprogesterone acetate (MPA)-negative amenorrhea and galactorrhea in female patients, and hypogonadism and decreased testosterone level-driven sexual disfunction in male patients. Oligomenorrhea and primary infertility have also been reported in some female patients. [ Orphanet:397685 ]

Term info

database cross reference
  • OMIM:615555 (Orphanet:397685/e)
  • Orphanet:397685 (OMIM:615555)
  • UMLS:C0020514 (OMIM:615555)
  • SCTID:763715007 (MONDO:equivalentTo)
  • ICD10CM:E22.1 (Orphanet:397685/ntbt)
Subsets

ordo_disease

abbreviation
HPRL [ MONDO:Lexical OMIM:615555 ]

definition

Familial hyperprolactinemia is a rare, genetic endocrine disorder characterized by persistently high prolactin serum levels (not associated with gestation, puerperium, drug intake or pituitary tumor) in multiple affected family members. Clinically it manifests with signs usually observed in hyperprolactinemia, which are: secondary medroxyprogesterone acetate (MPA)-negative amenorrhea and galactorrhea in female patients, and hypogonadism and decreased testosterone level-driven sexual disfunction in male patients. Oligomenorrhea and primary infertility have also been reported in some female patients.

exactMatch

https://omim.org/entry/615555, http://identifiers.org/snomedct/763715007, http://purl.obolibrary.org/obo/Orphanet_397685

has exact synonym

familial isolated prolactin receptor deficiency, hereditary hyperprolactinemia (disease), familial hyperprolactinemia

has related synonym

HPRL, hyperprolactinemia

id

MONDO:0014250