Generalized arterial calcification of infancy
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Occlusive infantile arteriopathy Idiopathic obliterative arteriopathy Infantile arteriosclerosis Idiopathic infantile arterial calcification |
| Number of Symptoms | 8 |
| OrphanetNr: | 51608 |
| OMIM Id: |
208000
614473 |
| ICD-10: |
Q28.8 |
| UMLs: |
C0264955 C1859727 |
| MeSH: |
C537440 |
| MedDRA: |
|
| Snomed: |
68926002 |
Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal dominant Autosomal recessive [Orphanet] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Rare genetic vascular disease
-Rare circulatory system disease -Rare genetic disease |
Symptom Information:
|
|
(HPO:0004912) | Hypophosphatemic rickets | rare [HPO:skoehler] | 13 / 7739 | |||
|
|
(HPO:0001717) | Coronary artery calcification | 4 / 7739 | ||||
|
|
(HPO:0004940) | Generalized arterial calcification | 2 / 7739 | ||||
|
|
(HPO:0004322) | Short stature | rare [HPO:skoehler] | 1232 / 7739 | |||
|
|
(HPO:0001658) | Myocardial infarction | 30 / 7739 | ||||
|
|
(HPO:0000822) | Hypertension | 224 / 7739 | ||||
|
|
(HPO:0001635) | Congestive heart failure | 232 / 7739 | ||||
|
|
(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|