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ORPHA:397685

Familial hyperprolactinemia

high confidenceDisorder

Also known as: Familial isolated prolactin receptor deficiency

Publications

25

26.3th percentile

Trials

1

Interventional, condition-specific

Researchers

167

Distinct authors in sample

Gene link

PRLR

Limited

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

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 members of a family. 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 dysfunction in male patients. Oligomenorrhea and primary infertility have also been reported in some female patients.

How rare: How common this is has not been clearly measured.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (3)

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

Research stages

Trial readiness signals

Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”

3/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Limited — PRLR

  2. LiteraturePresent

    25 matched papers (9 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialPresent

    1 matched on ClinicalTrials.gov

Biology

Genes and phenotypes

Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.

Do we know what causes it?

Possibly — only limited evidence so far for PRLR.

GenCC classification: Limited.

Phenotypes (Monarch / HPO)

Not enriched in this build — Monarch phenotype joins were not run for this record.

Animal models (Monarch / Alliance)

Not enriched in this build.

Literature

Is anyone studying this?

25

25 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.

25 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).

9 in the last 10 years · high confidence · 26.3th percentile (publications denominator)

Phrase hits: 25 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

167

Distinct author names in 25 sampled papers — named people below.

Who's working on it?

People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.

  1. 01
    Gorvin CM2 papers · 2014

    Academic Endocrine Unit, Radcliffe Department of Medicine (P.J.N., C.M.G., R.V.T.), Peter Medawar Building for Pathogen Research, Nuffield Department of Medicine (C.B.W., P.K.), Oxford Molecular Pathology Institute, Sir William Dunn School of Pathology (M.B., P.A.M.), and the Structural Genomics Consortium (C.B.), University of Oxford, Oxford, and Glasgow Royal Infirmary, Glasgow (S.J.C., M.A., R.S.D.) - all in the United Kingdom.

    Papers in Europe PMC
  2. 02
    Liu Y2 papers · 2016

    Department of Developmental Biology, Stanford University School of Medicine, Stanford, CA.

    Papers in Europe PMC
  3. 03
    Newey PJ2 papers · 2014

    Academic Endocrine Unit, Radcliffe Department of Medicine (P.J.N., C.M.G., R.V.T.), Peter Medawar Building for Pathogen Research, Nuffield Department of Medicine (C.B.W., P.K.), Oxford Molecular Pathology Institute, Sir William Dunn School of Pathology (M.B., P.A.M.), and the Structural Genomics Consortium (C.B.), University of Oxford, Oxford, and Glasgow Royal Infirmary, Glasgow (S.J.C., M.A., R.S.D.) - all in the United Kingdom.

    Papers in Europe PMC
  4. 04
    Thakker RV2 papers · 2014

    Academic Endocrine Unit, Radcliffe Department of Medicine (P.J.N., C.M.G., R.V.T.), Peter Medawar Building for Pathogen Research, Nuffield Department of Medicine (C.B.W., P.K.), Oxford Molecular Pathology Institute, Sir William Dunn School of Pathology (M.B., P.A.M.), and the Structural Genomics Consortium (C.B.), University of Oxford, Oxford, and Glasgow Royal Infirmary, Glasgow (S.J.C., M.A., R.S.D.) - all in the United Kingdom.

    Papers in Europe PMC
  5. 05
    Abacı A1 paper · 2019

    Dokuz Eylül University Faculty of Medicine, Department of Pediatric Endocrinology, İzmir, Turkey

    Papers in Europe PMC
  6. 06
    Acar S1 paper · 2019

    Dokuz Eylül University Faculty of Medicine, Department of Pediatric Endocrinology, İzmir, Turkey

    Papers in Europe PMC
  7. 07
    Akbaş ED1 paper · 2019

    Gazi University Faculty of Medicine, Department of Pediatric Endocrinology, Ankara, Turkey

    Papers in Europe PMC
  8. 08
    Akıncı A1 paper · 2019

    İnönü University Faculty of Medicine, Department of Pediatric Endocrinology, Malatya, Turkey

    Papers in Europe PMC
  9. 09
    Alrefaee F1 paper · 2022

    Pediatric Department, Al Adan Hospital, Ministry of Health, Kuwait City, Kuwait.

    Papers in Europe PMC
  10. 10
    Aouizerat BE1 paper · 2008
    Papers in Europe PMC

Clinical research

Is a treatment being tested?

1

interventional trials for this specific condition

1 interventional trial matched this specific condition name; none in our sample are currently recruiting. 19 trials are registered for hyperprolactinemia, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 27 July 2026

1 interventional trial — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 76.8th percentile).

high confidence · 76.8th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

1 interventional trials matched after quoted-phrase search and title/condition post-filter.

No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.

Broader category: hyperprolactinemia

19

Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.

Worth raising with a clinician. How we count trials.

Recruiting under the broader category

Where to find support

We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:

India — NPRD

Last verified 2026-07-26

This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.

Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.

How we counted this

Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.

"Familial hyperprolactinemia" OR "Familial isolated prolactin receptor deficiency" OR "hereditary hyperprolactinemia (disease)"

Run this search on Europe PMC

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Familial hyperprolactinemia" OR "Familial isolated prolactin receptor deficiency" OR "hereditary hyperprolactinemia (disease)" OR "PRLR"

Recall-expansion terms: PRLR

Interventional trials matched via: recall-expansion (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 1 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"hyperprolactinemia"

Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion

Run this search on ClinicalTrials.gov

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-27T15:12:14.468Z