Hereditary arterial and articular multiple calcification syndrome
Synonyms: CALJA · Calcification of joints and arteries
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adult
- Status
- active
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.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hereditary arterial and articular multiple calcification syndrome | CALJA · Calcification of joints and arteries |
| fr | Syndrome héréditaire de calcification artérielle et articulaire | CALJA |
| de | Multiple Kalzifikation der Gelenke und Arterien, hereditäre Form | CALJA · Kalzifikation der Gelenke und Arterien |
| es | Síndrome de calcificación arterial y articular múltiple hereditaria | CALJA |
| it | Sindrome ereditaria da calcificazioni arteriose e articolari multiple syndrome | CALJA · Calcificazione delle articolazioni e delle arterie |
| nl | Erfelijke arteriële en articulaire meervoudige calcificatie-syndroom | CALJA · Calcificatie van gewrichten en slagaders |
| pt | Síndrome hereditário de calcificações múltiplas articular e arterial | |
| pl | Dziedziczny zespół mnogich zwapnień tętniczych i stawowych | = en |
| cs | Dědičný syndrom mnohočetných kalcifikací arterií a kloubů | CALJA · Kalcifikace kloubů a arterií |
| uk | Спадковий синдром множинної кальцифікації артерій та суглобів | Кальцифікація суглобів та артерій · CALJA |
| zh | 遗传性动脉和关节多发性钙化综合征 | 关节和动脉钙化 |
| tr | Kalıtsal arteriyel ve artiküler çoklu kalsifikasyon sendromu | CALJA · Eklem ve arterlerin kireçlenmesi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 211800 | E | validated | |
| ICD-10 | I77.8 | NTBT | attributed | validated |
| ICD-11 | BD52 | NTBT | attributed | validated |
| MONDO | 0008895 | E | validated | |
| MeSH | C565891 | E | validated | |
| UMLS | C1859372 | E | validated | |
| GARD | 10762 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:233655Rare genetic vascular disease
rare genetic diseases; rare circulatory system diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| NT5E | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:8021 | ENSG00000135318 | 129190 | 6q14.3 | 5'-nucleotidase ecto | 21288095[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 16 cases | Worldwide | Case(s) | Validated | 21288095[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_21288095[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
7 annotations · validated 2017-06-07| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0025015 | Abnormal vascular morphology | |
| HP:0011025 | Abnormality of cardiovascular system physiology | |
| HP:0003207 | Arterial calcification | |
| HP:0025324 | Arterial occlusion | |
| Frequent (79-30%) | ||
| HP:0012101 | Decreased serum creatinine | |
| Occasional (29-5%) | ||
| HP:0005116 | Arterial tortuosity | |
| HP:0001717 | Coronary artery calcification | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 21288095[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/289601
- This record as JSON: /data/d/289601.json