heterotaxy, visceral, 7, autosomal
Findings
No curated finding names heterotaxy, visceral, 7, autosomal yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any visceral heterotaxy in which the cause of the disease is a mutation in the MMP21 gene.
Definition from the Mondo Disease Ontology (MONDO:0014762), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
15 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.
- DextrocardiaHPOHP:0001651
- 4 of 14 reported patients
- Transposition of the great arteriesHPOHP:0001669
- 4 of 14 reported patients
- Pulmonary artery hypoplasiaHPOHP:0004971
- 2 of 14 reported patients
- Abnormal aortic valve morphologyHPOHP:0001646
- 1 of 14 reported patients
- Abnormal tricuspid valve morphologyHPOHP:0001702
- 1 of 14 reported patients
- Mitral atresiaHPOHP:0011560
- 1 of 14 reported patients
- Right aortic archHPO
Show the remaining 3
- Interrupted aortic archHPOHP:0011611
- Interrupted inferior vena cava with azygous continuationHPOHP:0011671
- Situs inversus totalisHPOHP:0001696
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.
- MMP21HGNC:14357
- Definitive · G2P · Autosomal recessive · 2016
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
4 names
Resolves to: heterotaxy, visceral, 7, autosomal
- Also called
- heterotaxy, visceral, 7, autosomal; HTX7HTX7MMP21 visceral heterotaxyvisceral heterotaxy caused by mutation in MMP21