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hereditary arterial and articular multiple calcification syndrome
Summary
- Synonym
-
- CALJA
- arterial calcification and distal joint calcification
- arterial calcification due to CD73 deficiency
- arterial calcification due to deficiency of CD73
- calcification of joints and arteries
- Definition
- A syndrome characterized by adult onset of calcification of arteries in the lower extremities and of the hand and foot capsule joints that has_material_basis_in homozygous or compound heterozygous mutation in the NT5E gene on chromosome 6q14.3.
- Super Class
- autosomal recessive disease syndrome
External Links
- Disease Ontology
- DOID:0111582
- Mondo Disease Ontology
- ORDO
- GARD
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P21589 | 5'-nucleotidase |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0003207 | Arterial calcification |
| HP:0011025 | Abnormal cardiovascular system physiology |
| HP:0001717 | Coronary artery calcification |
| HP:0012101 | Decreased serum creatinine |
| HP:0005116 | Arterial tortuosity |
| HP:0005645 | Intervertebral disk calcification |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0011986 | Ectopic ossification |
| HP:0004417 | Intermittent claudication |
