ORPHA:49
Penile agenesis
Also known as: Aphallia · Penis agenesis
Publications
298
67th percentile
Trials
0
Interventional, condition-specific
Researchers
753
Distinct authors in sample
Gene link
—
Readiness
1/6
Stages with a signal
Clinical definition (Orphanet)
Penile agenesis is a rare urogenital tract characterized by complete absence of the phallus. It is usually accompanied by a well-developed scrotum and presence of a skin tag at the anal verge (with or without a urethral meatal opening within it). Often, other genitourinary (e.g. cryptorchidism, renal agenesis and , urinary reflux, prostate agenesis) as well as non-genitourinary abnormalities (including skeletal and neural disorders, anal stenosis, imperforate anus, cardiac defects) are associated.
How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0018846
- MeSH:C536649
- UMLS:C1387005
- NCIT:C99009
Additional Mondo synonyms (3)
Aphallus · congenital absence of penis · penis agenesis
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
298 matched papers (104 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?
298
298 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.
298 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).
104 in the last 10 years · medium confidence · 67th percentile (publications denominator)
Phrase hits: 298 · MeSH hits: 0
Who's working on it?
753
Distinct author names in 200 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.
- 01De Castro R8 papers · 2025
Pediatric Surgery, Hospital CdC Petrucciani, Lecce, Italy.
Papers in Europe PMC - 02
- 03Ralph DJ6 papers · 2017
St. Peter's Andrology Centre and The Institute of Urology, University College London Hospitals, London, United Kingdom.
Papers in Europe PMC - 04Garaffa G5 papers · 2014
St Peter's Andrology, London W1G 6BJ, UK. giuliogaraffa@gmail.com
Papers in Europe PMC - 05Lee PA4 papers · 2024
Department of Pediatrics, Penn State College of Medicine, The Milton S, Hershey Medical Center, 500 University Drive, P,O, Box 850, Hershey, PA, 17033-0850, USA. plee@psu.edu.
Papers in Europe PMC - 06Marchand B4 papers · 2016
University of Corsica, CNRS, UMR 6134 - SPE, Parasites and Mediterranean Ecosystems Laboratory, 20250 Corte, Corsica, France.
Papers in Europe PMC - 07Meyer-Bahlburg HF4 papers · 2016
New York State Psychiatric Institute and Department of Psychiatry, Columbia University, 1051 Riverside Drive, Unit 15, New York, NY 10032, USA. meyerb@childpsych.columbia.edu
Papers in Europe PMC - 08
- 09Quilichini Y4 papers · 2016
University of Corsica, CNRS, UMR 6134 - SPE, Parasites and Mediterranean Ecosystems Laboratory, 20250 Corte, Corsica, France.
Papers in Europe PMC - 10Reiner WG4 papers · 2016
Departments of Urology and Psychiatry, University of Oklahoma Health Sciences Center, 920 S.L. Young Boulevard, Oklahoma City, OK 73104, USA. william-reiner@ouhsc.edu
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.
medium 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.
"Penile agenesis" OR "Aphallia" OR "Penis agenesis" OR "Aphallus" OR "congenital absence of penis" OR "congenital absence of the penis"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Penile agenesis" OR "Aphallia" OR "Penis agenesis" OR "Aphallus" OR "congenital absence of penis" OR "congenital absence of the penis"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase; with hits: phrase
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
- Publication count (298) is high for prevalence class "<1 / 1 000 000" — confidence capped at medium
Ingested 2026-07-26T12:14:01.956Z