ORPHA:647811
Cardiac-urogenital syndrome
Also known as: MYRF-related cardiac urogenital syndrome
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
45
51.2th percentile
Trials
0
Interventional, condition-specific
Researchers
464
Distinct authors in sample
Gene link
MYRF
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare genetic multiple anomalies/ syndrome characterized by complex heart defects (including hypoplastic left heart, aortic valve atresia, mitral valve atresia, tubular hypoplasia of the ascending aorta, Scimitar syndrome), external urogenital abnormalities (including ambigous external genitalia, poorly defined urethral meatus, blind-ending vagina in females or bifid scrotum, penoscrotal hypospadias with micropenis and cryptorchidism in males). diaphragmatic hernia, pulmonary hypoplasia and intestinal malrotation are other major clinical features.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0032653
- OMIM:618280
- UMLS:C4748946
Additional Mondo synonyms (2)
CARDIAC-UROGENITAL SYNDROME · CUGS
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.”
2/6 stages with a signal
No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.
- Gene identifiedPresent
Definitive — MYRF
- LiteraturePresent
45 matched papers (44 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?
Yes — we know a specific gene responsible (MYRF).
GenCC classification: Definitive.
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?
45
45 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.
45 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).
44 in the last 10 years · medium confidence · 51.2th percentile (publications denominator)
Phrase hits: 45 · MeSH hits: 0
Who's working on it?
464
Distinct author names in 45 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.
- 01Prasov L6 papers · 2026
Department of Ophthalmology and Visual Sciences, University of Michigan, Ann Arbor, Michigan, United States of America.
Papers in Europe PMC - 02Scott DA5 papers · 2023
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA. dscott@bcm.edu.
Papers in Europe PMC - 03Lalani SR3 papers · 2023
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.
Papers in Europe PMC - 04Rosenfeld JA3 papers · 2023
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.
Papers in Europe PMC - 05Wang Z3 papers · 2024
School of Life Science and Technology, ShanghaiTech University, Shanghai, China.
Papers in Europe PMC - 06Brinkmeier ML2 papers · 2026
Department of Ophthalmology and Visual Sciences, University of Michigan, Ann Arbor, Michigan, United States of America.
Papers in Europe PMC - 07Chan KYK2 papers · 2022
Department of Obstetrics and Gynaecology, School of Clinical Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, SAR, China.
Papers in Europe PMC - 08Chui MMC2 papers · 2022
Department of Paediatrics and Adolescent Medicine, School of Clinical Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, SAR, China.
Papers in Europe PMC - 09Chung BHY2 papers · 2022
Department of Paediatrics and Adolescent Medicine, School of Clinical Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, SAR, China. bhychung@hku.hk.
Papers in Europe PMC - 10Geddes GC2 papers · 2023
Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, 46202, USA.
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.
"Cardiac-urogenital syndrome" OR "MYRF-related cardiac urogenital syndrome"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Cardiac-urogenital syndrome" OR "MYRF-related cardiac urogenital syndrome" OR "MYRF"
Recall-expansion terms: MYRF
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, recall-expansion; with hits: phrase
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: CUGS
Confidence reasoning
- Preferred label is multi-word and distinctive
- 1 synonym(s) dropped by stoplist (may under-count)
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-27T19:48:53.982Z