arterial calcification, generalized, of infancy, 2
Findings
No curated finding names arterial calcification, generalized, of infancy, 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any arterial calcification of infancy in which the cause of the disease is a mutation in the ABCC6 gene.
Definition from the Mondo Disease Ontology (MONDO:0013768), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
11 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.
- Arterial calcificationHPOHP:0003207
- 2 of 2 reported patients
- Cardiogenic shockHPOHP:0030149
- 2 of 2 reported patients
- CardiomegalyHPOHP:0001640
- 2 of 2 reported patients
- Congestive heart failureHPOHP:0001635
- 2 of 2 reported patients
- Coronary artery calcificationHPOHP:0001717
- 2 of 2 reported patients
- Myocardial infarctionHPOHP:0001658
- 2 of 2 reported patients
- Reduced left ventricular ejection fractionHPO
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.
- ABCC6HGNC:57
- Definitive · G2P · Autosomal recessive · 2025
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
3 names
Resolves to: arterial calcification, generalized, of infancy, 2
- Also called
- ABCC6 arterial calcification of infancyarterial calcification of infancy caused by mutation in ABCC6arterial calcification, generalized, of infancy, type 2