structural heart defects and renal anomalies syndrome
MONDO:0044321Mondo
Findings
No curated finding names structural heart defects and renal anomalies syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Death in infancy
HPO, annotations 2026-09-02
Features
22 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.
- Elevated circulating creatinine concentrationHPOHP:0003259
- 3 of 3 reported patients · Infantile onset
- Systolic heart murmurHPOHP:0031664
- 4 of 4 reported patients
- Ventricular septal defectHPOHP:0001629
- 4 of 4 reported patients
- CyanosisHPOHP:0000961
- 2 of 4 reported patients
- Generalized edemaHPOHP:0007430
- 2 of 4 reported patients
- Partial agenesis of the corpus callosumHPOHP:0001338
- 2 of 4 reported patients
- Truncus arteriosusHPOHP:0001660
- 2 of 4 reported patients
- Abnormal facial shapeHPOHP:0001999
- 1 of 4 reported patients
- Atrial septal defectHPOHP:0001631
- 1 of 4 reported patients
- Interrupted aortic archHPOHP:0011611
- 1 of 4 reported patients
- Low-set earsHPOHP:0000369
- 1 of 4 reported patients
- MicrocephalyHPOHP:0000252
- 1 of 4 reported patients · Neonatal onset
Show the remaining 10
- Neonatal hypotoniaHPOHP:0001319
- 1 of 4 reported patients · Neonatal onset
- Overlapping toeHPOHP:0001845
- 1 of 4 reported patients
- Partial anomalous pulmonary venous returnHPOHP:0010773
- 1 of 4 reported patients
- Persistent left superior vena cavaHPOHP:0005301
- 1 of 4 reported patients
- Preauricular skin tagHPOHP:0000384
- 1 of 4 reported patients
- Renal cystHPOHP:0000107
- 1 of 4 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.
- TMEM260HGNC:20185
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Strong · G2P · Autosomal recessive · 2017