ORPHAN DISEASE - (ODCs) ODCs ORPHAN DISEASE - (ODCs) ODCs| Bilateral striopallidodentate calcinosis |
Polycythemia vera |
| PDGFB | JAK2 | |||
| PDGFRB | MPL | |||
| SLC20A2 | TET2 |
| INTERACTOME ASSOCIATIONS (click on a score value to see the evidence) |
PDGFRB | (0.65) | JAK2 | |
Citations in the biomedical literature:
Bilateral striopallidodentate calcinosis |
Polycythemia vera |
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Synonym(s): - BSPDC- Cerebrovascular ferrocalcinosis - Idiopathic basal ganglia calcification | Synonym(s): - Acquired primary erythocytosis- Erythremia - Osler-Vaquez disease - PV - Polycythemia rubra vera - Vaquez disease | ||
Classification (Orphanet): - Rare genetic disease - Rare neurologic disease | Classification (Orphanet): - Rare hematologic disease - Rare oncologic disease | ||
Classification (ICD10): - Diseases of the nervous system -
| Classification (ICD10): - Neoplasms -
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Epidemiological data: Class of prevalence: unknown Average age onset: adulthood Average age of death: - Type of inheritance: autosomal dominant | Epidemiological data: Class of prevalence: 1-5 / 10 000 Average age onset: variable Average age of death: normal Type of inheritance: sporadic | ||
External references: 4 OMIM references -
No MeSH references | External references: 1 OMIM reference - 1 MeSH reference: D011087 | ||
| COMMON SIGNS |
- Hepatomegaly / liver enlargement (excluding storage disease) |
Bilateral striopallidodentate calcinosis |
Polycythemia vera |
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Very frequent - Agyria / micro / pachy / macrogyria / lissencephaly / gyration / neuronal migration defect - Autosomal recessive inheritance - Dilated cerebral ventricles without hydrocephaly - Intracranial / cerebral calcifications - Intrauterine growth retardation - Microcephaly - Purpura / petichiae - Seizures / epilepsy / absences / spasms / status epilepticus - Thrombocytopenia / thrombopenia Frequent - Corneal clouding / opacity / vascularisation - Structural anomalies of the liver and the biliary tract | Very frequent - Acute abdominal pain / colic - Acute leukemia - Angor pectoris / myocardial infarction - Chronic arterial hypertension - Dizziness - Ecchymoses - Epistaxis / nose bleeding - Erythema / erythematous lesions / erythroderma / polymorphous erythema - Facial pain / cephalalgia / migraine - Gastrointestinal bleeding / hemorrhage / hematemesis / melena / rectorrhagia - Gingivorrhagia / gingival bleeding - Myelodysplastic syndrome - Splenomegaly - Tinnitus - Weight loss / loss of appetite / break in weight curve / general health alteration Frequent - Articular / joint pain / arthralgia - Asthenia / fatigue / weakness - Respiratory distress / dyspnea / respiratory failure / lung volume reduction Occasional - Arterial embolism / thrombosis - Claudication / pain on mastication / while chewing - Portal hypertension - Pruritus / itching - Transient cerebral ischemia / stroke - Venous thrombosis / phlebitis / thrombophlebitis | ||
