hereditary arterial and articular multiple calcification syndrome
Findings
No curated finding names hereditary arterial and articular multiple calcification syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Hereditary arterial and articular multiple calcification syndrome is a very rare genetic vascular disease of autosomal recessive inheritance, described in less than 20 patients to date, characterized by adult-onset (as early as the second decade of life) isolated calcification of the arteries of the lower extremities (including the iliac, femoral, and tibial arteries) as well as the capsule joints of the fingers, wrists, ankles and feet, and that usually manifests with mild paresthesias of the lower extremities, intense joint pain and swelling, and early onset arthritis of affected joints.
Definition from the Mondo Disease Ontology (MONDO:0008895), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
13 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.
- Femoral arterial calcificationHPOHP:0031303
- 5 of 5 reported patients
- Iliac arterial calcificationHPOHP:0031304
- 5 of 5 reported patients
- Intermittent claudicationHPOHP:0004417
- 5 of 5 reported patients
- Abnormal cardiovascular system physiologyHPOHP:0011025
- Very frequent (80% to 99% of cases)
- Abnormal vascular morphologyHPOHP:0025015
- Very frequent (80% to 99% of cases)
- Arterial calcification
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.
- NT5EHGNC:8021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2020
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
2 names
Resolves to: hereditary arterial and articular multiple calcification syndrome
- Also called
- calcification of joints and arteriesCALJA