cardiac-urogenital syndrome
MONDO:0032653Mondo
Findings
No curated finding names cardiac-urogenital syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Second trimester onset
HPO, annotations 2026-09-02
Features
26 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- CryptorchidismHPOHP:0000028
- 2 of 2 reported patients
- Pulmonary hypoplasiaHPOHP:0002089
- 2 of 2 reported patients
- Scimitar anomalyHPOHP:0011626
- 2 of 2 reported patients
- 2-3 toe syndactylyHPOHP:0004691
- 1 of 2 reported patients
- Biventricular hypertrophyHPOHP:0200128
- 1 of 2 reported patients
- BronchomalaciaHPOHP:0002780
- 1 of 2 reported patients
- Congenital diaphragmatic herniaHPOHP:0000776
- 1 of 2 reported patients
- Cor triatriatum sinisterHPOHP:0031134
- 1 of 2 reported patients
- Coronary sinus enlargementHPOHP:0031298
- 1 of 2 reported patients
- Enlarged kidneyHPOHP:0000105
- 1 of 2 reported patients
- Hepatopulmonary fusionHPOHP:0410259
- 1 of 2 reported patients
- Interrupted aortic archHPOHP:0011611
- 1 of 2 reported patients
Show the remaining 14
- Intestinal malrotationHPOHP:0002566
- 1 of 2 reported patients
- MesocardiaHPOHP:0011599
- 1 of 2 reported patients
- MicropenisHPOHP:0000054
- 1 of 2 reported patients
- Partial anomalous pulmonary venous returnHPOHP:0010773
- 1 of 2 reported patients
- Patent ductus arteriosusHPOHP:0001643
- 1 of 2 reported patients
- Patent urachusHPOHP:0010479
- 1 of 2 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- MYRFHGNC:1181
- Definitive · ClinGen · Autosomal dominant · 2025
- Strong · Ambry Genetics · Autosomal dominant · 2022
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · G2P · Autosomal dominant · 2019
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- A kind of
Other names
1 name
Resolves to: cardiac-urogenital syndrome
- Also called
- CUGS