ORPHA:180176
Familial juvenile hypertrophy of the breast
Also known as: Familial juvenile gigantomastia · Virginal breast hypertrophy
Publications
102
53.9th percentile
Trials
0
Interventional, condition-specific
Researchers
436
Distinct authors in sample
Gene link
—
Readiness
1/6
Stages with a signal
Clinical definition (Orphanet)
A rare breast disorder characterized by unilateral or bilateral, symmetrical or asymmetrical, uncontrolled, rapid and massive enlargement of the breast(s) in peripubertal females, occurring in various members of a family. Additional associated manifestations may include skin hyperemia, dilated subcutaneous veins, skin necrosis, kyphosis, lordosis and anonychia. Growth and development are otherwise normal.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0007237
- MeSH:C536821
- OMIM:113670
- UMLS:C0405471
Additional Mondo synonyms (5)
familial juvenile gigantomastia · juvenile gigantomastia · juvenile macromastia · virginal breast hypertrophy · virginal mammary hypertrophy
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.”
1/6 stages with a signal
Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
102 matched papers (52 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- Interventional trialNot found
No matched interventional trial under our ClinicalTrials.gov rules
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?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
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?
102
102 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.
102 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).
52 in the last 10 years · high confidence · 53.9th percentile (publications denominator)
Phrase hits: 89 · MeSH hits: 14
Who's working on it?
436
Distinct author names in 102 sampled papers — named people below.
Who's working on it?
No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.
- 01Heller L3 papers · 2015
Department of Plastic Surgery, Assaf Harofeh Medical Center, affiliated to Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel; ; Division of Plastic Surgery, Baylor College of Medicine, Houston, Texas, USA;
Papers in Europe PMC - 02Agbenorku P2 papers · 2013
Reconstructive Plastic Surgery and Burns Unit, Komfo Anokye Teaching Hospital, School of Medical Sciences, Kwame Nkrumah University of Science and Technology, Kumasi, Ghana.
Papers in Europe PMC - 03
- 04Antoszewski B2 papers · 2022
Plastic, Reconstructive and Aesthetic Surgery Clinic, Institute of Surgery, Medical University of Lodz, Lodz, Poland.
Papers in Europe PMC - 05Christopoulos P2 papers · 2024
PAG Clinic, 2nd Department of Obstetrics and Gynecology, Aretaieio Hospital, Medical School, National and Kapodistrian University of Athens, 15772 Athens, Greece.
Papers in Europe PMC - 06Cohen HI2 papers · 2010Papers in Europe PMC
- 07Dimitrakakis C2 papers · 2017
1(st)Department of Obstetrics and Gynaecology, University of Athens, Alexandra Hospital, Athens, Greece.
Papers in Europe PMC - 08Falik-Zaccai TC2 papers · 2010Papers in Europe PMC
- 09
- 10Kasielska-Trojan A2 papers · 2022
Plastic, Reconstructive and Aesthetic Surgery Clinic, Institute of Surgery, Medical University of Lodz, Lodz, Poland.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
0
interventional trials for this specific condition
No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).
Data as of 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
high confidence · 36.5th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
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 2026-07-26This 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 juvenile hypertrophy of the breast" OR "Familial juvenile hypertrophy of breast" OR "Familial juvenile gigantomastia" OR "Virginal breast hypertrophy" OR "juvenile gigantomastia" OR "juvenile macromastia" OR "virginal mammary hypertrophy"
MeSH descriptor terms unioned into the query: Gigantomastia
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Familial juvenile hypertrophy of the breast" OR "Familial juvenile hypertrophy of breast" OR "Familial juvenile gigantomastia" OR "Virginal breast hypertrophy" OR "juvenile gigantomastia" OR "juvenile macromastia" OR "virginal mammary hypertrophy" OR "Gigantomastia"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase, mesh; with hits: phrase, mesh
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 2026-07-27T09:01:09.641Z