Details of Disease

General Information of Disease (ID: DIS5WERT)

• Disease Name: Familial hyperprolactinemia
• Synonyms: HPRL; hyperprolactinemia; familial isolated prolactin receptor deficiency; familial hyperprolactinemia; hereditary hyperprolactinemia (disease)
• 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.
• Disease Hierarchy:
  DISD715V: Hereditary neurological disease
  DISLIZS4: Hyperprolactinaemia
  DIS5WERT: Familial hyperprolactinemia
• Disease Identifiers:
  MONDO ID: MONDO_0014250
  UMLS CUI: C4706551
  MedGen ID: 1645317
  Orphanet ID: 397685
  SNOMED CT ID: 763715007

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
PRLR	TTBPXMA	Supportive	Autosomal dominant	[1]
PRLR	TTBPXMA	Strong	Biomarker	[2]

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PRLR	OTTHN46W	Supportive	Autosomal dominant	[1]

References

• [1] Mutant prolactin receptor and familial hyperprolactinemia. N Engl J Med. 2013 Nov 21;369(21):2012-2020. doi: 10.1056/NEJMoa1307557. Epub 2013 Nov 6.
• [2] Germline Prolactin Receptor Mutation Is Not a Major Cause of Sporadic Prolactinoma in Humans.Neuroendocrinology. 2016;103(6):738-45. doi: 10.1159/000442981. Epub 2015 Dec 8.