Hereditary arterial and articular multiple calcification syndrome
General Information (adopted from Orphanet):
| Synonyms, Signs: |
CALJA ACDC Arterial calcification due to deficiency of CD73 |
| Number of Symptoms | 10 |
| OrphanetNr: | 289601 |
| OMIM Id: |
211800
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| ICD-10: |
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| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal recessive 21288095 [IBIS] |
| Age of onset: |
Adolescent Adult 21288095 [IBIS] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
AARSKOG SYNDROME, AUTOSOMAL DOMINANT
-AARSKOG SYNDROME, AUTOSOMAL DOMINANT Rare genetic vascular disease -Rare circulatory system disease -Rare genetic disease |
Symptom Information:
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(HPO:0100545) | Arterial stenosis | 21288095 | IBIS | 22 / 7739 | ||
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(HPO:0005315) | Peripheral artery occlusive disease | 21288095 | IBIS | 7 / 7739 | ||
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(HPO:0004417) | Intermittent claudication | 21288095 | IBIS | 10 / 7739 | ||
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(HPO:0003401) | Paresthesia | 21288095 | IBIS | 42 / 7739 | ||
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(HPO:0002829) | Arthralgia | 21288095 | IBIS | 79 / 7739 | ||
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(HPO:0001367) | Abnormal joint morphology | 21288095 | IBIS | 53 / 7739 | ||
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(HPO:0001724) | Aortic dilatation | 21288095 | IBIS | 24 / 7739 | ||
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(HPO:0003207) | Arterial calcification | 21288095 | IBIS | 2 / 7739 | ||
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(HPO:0004934) | Vascular calcification | 21288095 | IBIS | 3 / 7739 | ||
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(HPO:0010766) | Ectopic calcification | 21288095 | IBIS | 5 / 7739 |
Associated genes:
| NT5E; |
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Description: (OMIM) |
Adult-onset calcification of the lower extremity arteries, including the iliac, femoral, and tibial arteries, and hand and foot capsule joints is an autosomal recessive condition that represents only the second mendelian disorder of isolated calcification (see generalized arterial calcification ... |
| Clinical Description OMIM |
Sharp (1954) described a family in which 2 of 4 sibs from a first-cousin marriage displayed calcification of joint structures and arteries of an unusual type. The remaining 2 sibs and the son and daughter of one of the ... |
| Molecular genetics OMIM |
In 5 affected sibs from a consanguineous family of English descent with calcifications of arteries and joints mapping to chromosome 6q14, St. Hilaire et al. (2011) analyzed 3 candidate genes and identified homozygosity for a nonsense mutation in the ... |