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MCID: PRM012
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Primary Polycythemia malady |
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Sources: 17Genetics Home Reference, 44Wikipedia, 33OMIM, 22MalaCards See all sources Export this MalaCard |
Genetics Home Reference: Familial erythrocytosis is an inherited condition characterized by an increased number of red blood cells (erythrocytes). The primary function of these cells is to carry oxygen from the lungs to tissues and organs throughout the body. Signs and symptoms of familial erythrocytosis can include headaches, dizziness, nosebleeds, and shortness of breath. The excess red blood cells also increase the risk of developing abnormal blood clots that can block the flow of blood through arteries and veins. If these clots restrict blood flow to essential organs and tissues (particularly the heart, lungs, or brain), they can cause life-threatening complications such as a heart attack or stroke. However, many people with familial erythrocytosis experience only mild signs and symptoms or never have any problems related to their extra red blood cells.17
MalaCards: Primary Polycythemia, also known as familial erythrocytosis, is related to essential thrombocythemia and acquired polycythemia. An important gene associated with Primary Polycythemia is SOCS2 (suppressor of cytokine signaling 2), and among its related pathways are Jak/Stat Pathway and IL-9 Pathway. The drugs anagrelide and anagrelide hydrochloride and the compounds oxygen and erex have been mentioned in the context of this disorder. Affiliated tissues include bone marrow, brain and heart, and related mouse phenotypes are immune system and liver/biliary system. Wikipedia: Polycythemia vera (PV, PCV) (also known as erythremia, primary polycythemia and polycythemia rubra vera)...44 more... OMIM: 133100 |
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Sources: 6Disease Ontology, 17Genetics Home Reference, 43UMLS, 33OMIM, 32Novoseek , 40SNOMED-CT, 27NCIt, 19ICD9CM See all sources |
Aliases & Descriptions:
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Sources: 33OMIM See all sources |
Clinical features from OMIM: 133100
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Sources: 4CenterWatch, 29NIH Clinical Center, 5ClinicalTrials, 43UMLS, 28NDF-RT See all sources |
Approved drugs:Search CenterWatch for primary polycythemia Drug clinical trials:Search ClinicalTrials for primary polycythemia Search NIH Clinical Center for primary polycythemia Search CenterWatch for primary polycythemia Inferred drug relations via UMLS/NDF-RT:43 28 anagrelide, anagrelide hydrochloride, busulfan, hydroxyurea, interferon alfa-2b, pipobroman, uracil mustard |
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Sources: 22MalaCards See all sources |
MalaCards organs/tissues related to primary polycythemia:22Bone marrow, Brain, Heart, Lung
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Sources: 25MGI See all sources |
MGI Mouse Phenotypes related to primary polycythemia:25
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Sources: 35PubMed See all sources |
Articles related to primary polycythemia:
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Sources: 1BioGPS See all sources |
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Sources: 3Cell Signaling Technology, 36QIAGEN, 10EMD Millipore, 41Thomson Reuters, 20KEGG, 38Reactome See all sources |
Pathways related to primary polycythemia according to GeneDecks:(show all 21)
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Sources: 32Novoseek , 18HMDB, 9DrugBank, 34PharmGKB See all sources |
Compounds related to primary polycythemia according to GeneDecks:(show all 15)
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Sources: 12Gene Ontology See all sources |
Biological processes related to primary polycythemia according to GeneDecks:(show all 9)
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