Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

familial hyperprolactinemia - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

familial hyperprolactinemia

MONDO:0014250

Also known as:familial isolated prolactin receptor deficiencyhereditary hyperprolactinemia (disease)HPRL

Find Clinical TrialsTrials

Overview

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.

GeneticsAutosomal recessive, Autosomal dominant · PRLR (chr 5)

Clinical Trials3 registered · 1 recruiting

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Increased circulating prolactin concentration; and common findings: Menorrhagia, Female infertility, Oligomenorrhea, and Galactorrhea. 6 total HPO annotations.

Organ System	Phenotype Count	Example Features
Lab test results	1	Increased circulating prolactin concentration

Genetic Landscape

PRLR function has not been fully characterized.

Familial hyperprolactinemia is associated with mutations in the PRLR gene on chromosome 5.

Diagnosis

Genetic testing for PRLR is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for familial hyperprolactinemia has been reported in the published literature.

Prognosis

Phenotype severity distribution: 1 always present feature, 4 common features.

Estimated prevalence: Unknown (Unknown prevalence).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

3 clinical trials registered, 1 recruiting. Interventions under study include drug therapy. Pipeline includes 1 PHASE3, 1 PHASE1. Research is primarily industry-sponsored.

103 publications have been identified in PubMed for familial hyperprolactinemia. Research spans Review / Meta-Analysis (33%), Epidemiology / Natural History (21%), and Basic Science / Preclinical (18%).

Research Type	Count	% of Total
Research summaries	33	33%

Data assembled from 7 of 12 sources · Last updated Sep 18, 2026, 12:44 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:615555

Orphanet

European rare disease database

Orphanet:397685

GARD

Genetic and Rare Diseases Info Center

GARD:17634

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are any of the 3 active clinical trials a good fit for my situation?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

← Back to All Diseases

Kisho

familial hyperprolactinemia

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

familial hyperprolactinemia

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications