megabladder, congenital
MONDO:0032879Mondo
Findings
No curated finding names megabladder, congenital yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
9 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.
- Fetal megacystisHPOHP:0010956
- 13 of 14 reported patients · Fetal onset
- Hyperechogenic kidneysHPOHP:0004719
- 2 of 14 reported patients
- Ventricular septal defectHPOHP:0001629
- 2 of 14 reported patients
- Atrial septal defectHPOHP:0001631
- 1 of 14 reported patients
- Bicuspid aortic valveHPOHP:0001647
- 1 of 14 reported patients
- Left ventricular noncompaction cardiomyopathyHPOHP:0011664
- 1 of 14 reported patients
- Multiple glomerular cystsHPOHP:0100611
- 1 of 14 reported patients
- Patent ductus arteriosusHPOHP:0001643
- 1 of 14 reported patients
- Stage 5 chronic kidney diseaseHPOHP:0003774
- 1 of 14 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.
- MYOCDHGNC:16067
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2022
Where it sits
- A kind of