Human Phenotype Ontology 
Grandparent Node:
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Abnormality of blood and blood-forming tissues (HP:0001871)help
Parent Node:
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Abnormal erythrocyte morphology (HP:0001877)help
..Starting node
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Polycythemia (HP:0001901)help
Term ID: 1901
Name: Polycythemia
Synonym: Abnormally shaped erythrocytes; Erythrocytosis; Increased red blood cells; Polyglobulia
Definition: Polycythemia is diagnosed if the red blood cell count, the hemoglobin level, and the red blood cell volume all exceed the upper limits of normal.
Comments:
Reference: HP:0001901
Genes and Diseases:
 
       Child Nodes:
........expandIncreased red blood cell mass (HP:0001898) help
........expandIncreased hemoglobin (HP:0001900) help

 Sister Nodes: 
..expandAbnormal erythrocyte enzyme level (HP:0030272) help
..expandAbnormal hematocrit (HP:0031850) help
..expandAbnormal hemoglobin (HP:0011902) help
..expandAbnormal mean corpuscular volume (HP:0025065) help
..expandAbnormal number of erythroid precursors (HP:0012131) help
..expandAbnormal reticulocyte morphology (HP:0004312) help
..expandAnemia (HP:0001903) help
..expandAnisocytosis (HP:0011273) help
..expandBlood group antigen abnormality (HP:0010970) help
..expandDysplastic erythropoesis (HP:0012134) help
..expandIncreased hemoglobin oxygen affinity (HP:0004825) help
..expandIncreased red cell osmotic fragility (HP:0005502) help
..expandIncreased red cell osmotic resistance (HP:0005546) help
..expandPoikilocytosis (HP:0004447) help
..expandReduced erythrocyte 2,3-diphosphoglycerate concentration (HP:0030271) help
..expandRouleaux formation (HP:0031898) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001901HP:0001901Polycythemia0ACVRL1 CL E G H94175OMIM:600376Telangiectasia, hereditary hemorrhagic, type 2.178
HP:0001901HP:0001901Polycythemia0BPGM CL E G H6691093OMIM:222800Erythrocytosis, familial, 8.2
HP:0001901HP:0001901Polycythemia0CCND1 CL E G H5951582ORPHA:892Von Hippel-Lindau diseaseHP:0040284 - Very rare1
HP:0001901HP:0001901Polycythemia0CCND1 CL E G H5951582OMIM:193300Von hippel-lindau syndrome.1
HP:0001901HP:0001901Polycythemia0CYB5R3 CL E G H17272873OMIM:250800Methemoglobinemia due to deficiency of methemoglobin reductase.24
HP:0001901HP:0001901Polycythemia0EDNRB CL E G H19103180OMIM:600501Abcd syndrome55
HP:0001901HP:0001901Polycythemia0EGLN1 CL E G H545831232OMIM:609820Erythrocytosis, familial, 3128
HP:0001901HP:0001901Polycythemia0ENG CL E G H20223349OMIM:187300Telangiectasia, hereditary hemorrhagic, type 1.186
HP:0001901HP:0001901Polycythemia0EPAS1 CL E G H20343374OMIM:611783ERYTHROCYTOSIS, FAMILIAL, 4; ECYT4112
HP:0001901HP:0001901Polycythemia0EPO CL E G H20563415OMIM:617907Erythrocytosis, familial, 5.1
HP:0001901HP:0001901Polycythemia0EPOR CL E G H20573416ORPHA:90042Primary familial polycythemiaHP:0040281 - Very frequent43
HP:0001901HP:0001901Polycythemia0FH CL E G H22713700OMIM:606812Fumarase deficiency.301
HP:0001901HP:0001901Polycythemia0GATA1 CL E G H26234170OMIM:300835Anemia, X-linked, with or without neutropenia and/or platelet abnormalities29
HP:0001901HP:0001901Polycythemia0HBA1 CL E G H30394823OMIM:617981ERYTHROCYTOSIS, FAMILIAL, 7; ECYT7200
HP:0001901HP:0001901Polycythemia0HBA2 CL E G H30404824OMIM:617981ERYTHROCYTOSIS, FAMILIAL, 7; ECYT788
HP:0001901HP:0001901Polycythemia0HBB CL E G H30434827OMIM:617980ERYTHROCYTOSIS, FAMILIAL, 6; ECYT6580
HP:0001901HP:0001901Polycythemia0JAK2 CL E G H37176192OMIM:133100Erythrocytosis, familial, 157
HP:0001901HP:0001901Polycythemia0JAK2 CL E G H37176192OMIM:263300Polycythemia vera57
HP:0001901HP:0001901Polycythemia0KCNN4 CL E G H37836293ORPHA:3202Dehydrated hereditary stomatocytosisHP:0040284 - Very rare3
HP:0001901HP:0001901Polycythemia0NAA10 CL E G H826018704OMIM:300855Ogden syndrome23
HP:0001901HP:0001901Polycythemia0PIEZO1 CL E G H978028993ORPHA:3202Dehydrated hereditary stomatocytosisHP:0040284 - Very rare36
HP:0001901HP:0001901Polycythemia0PKLR CL E G H53139020OMIM:102900Adenosine triphosphate, elevated, of erythrocytes.51
HP:0001901HP:0001901Polycythemia0SH2B3 CL E G H1001929605OMIM:133100Erythrocytosis, familial, 14
HP:0001901HP:0001901Polycythemia0SLC30A10 CL E G H5553225355ORPHA:309854Cirrhosis-dystonia-polycythemia-hypermanganesemia syndromeHP:0040282 - Frequent42
HP:0001901HP:0001901Polycythemia0SLC30A10 CL E G H5553225355OMIM:613280Hypermanganesemia with dystonia 142
HP:0001901HP:0001901Polycythemia0SLC4A1 CL E G H652111027ORPHA:3202Dehydrated hereditary stomatocytosisHP:0040284 - Very rare109
HP:0001901HP:0001901Polycythemia0VHL CL E G H742812687OMIM:263400Erythrocytosis, familial, 2490
HP:0001901HP:0001901Polycythemia0VHL CL E G H742812687ORPHA:892Von Hippel-Lindau diseaseHP:0040284 - Very rare490
HP:0001901HP:0001901Polycythemia0VHL CL E G H742812687OMIM:193300Von hippel-lindau syndrome.490
HP:0001901HP:0001900Increased hemoglobin1BPGM CL E G H6691093OMIM:222800Erythrocytosis, familial, 82
HP:0001901HP:0001900Increased hemoglobin1EGLN1 CL E G H545831232OMIM:609820Erythrocytosis, familial, 3.128
HP:0001901HP:0001898Increased red blood cell mass1EGLN1 CL E G H545831232OMIM:609820Erythrocytosis, familial, 3.128
HP:0001901HP:0001900Increased hemoglobin1EPAS1 CL E G H20343374OMIM:611783ERYTHROCYTOSIS, FAMILIAL, 4; ECYT4112
HP:0001901HP:0001900Increased hemoglobin1EPO CL E G H20563415OMIM:617907Erythrocytosis, familial, 5.1
HP:0001901HP:0001900Increased hemoglobin1GATA1 CL E G H26234170OMIM:300835Anemia, X-linked, with or without neutropenia and/or platelet abnormalities.29
HP:0001901HP:0001900Increased hemoglobin1HBB CL E G H30434827OMIM:617980ERYTHROCYTOSIS, FAMILIAL, 6; ECYT6580
HP:0001901HP:0001898Increased red blood cell mass1JAK2 CL E G H37176192OMIM:133100Erythrocytosis, familial, 1.57
HP:0001901HP:0001900Increased hemoglobin1JAK2 CL E G H37176192OMIM:133100Erythrocytosis, familial, 1.57
HP:0001901HP:0001900Increased hemoglobin1JAK2 CL E G H37176192OMIM:263300Polycythemia vera.57
HP:0001901HP:0001898Increased red blood cell mass1JAK2 CL E G H37176192OMIM:263300Polycythemia vera.57
HP:0001901HP:0001900Increased hemoglobin1SH2B3 CL E G H1001929605OMIM:133100Erythrocytosis, familial, 1.4
HP:0001901HP:0001898Increased red blood cell mass1SH2B3 CL E G H1001929605OMIM:133100Erythrocytosis, familial, 1.4
HP:0001901HP:0001900Increased hemoglobin1VHL CL E G H742812687OMIM:263400Erythrocytosis, familial, 2.490
HP:0001901HP:0001898Increased red blood cell mass1VHL CL E G H742812687OMIM:263400Erythrocytosis, familial, 2.490


Genes (24) :ACVRL1 BPGM CCND1 CYB5R3 EDNRB EGLN1 ENG EPAS1 EPO EPOR FH GATA1 HBA1 HBA2 HBB JAK2 KCNN4 NAA10 PIEZO1 PKLR SH2B3 SLC30A10 SLC4A1 VHL

Diseases (23) :OMIM:600376 OMIM:222800 ORPHA:892 OMIM:193300 OMIM:250800 OMIM:600501 OMIM:609820 OMIM:187300 OMIM:611783 OMIM:617907 ORPHA:90042 OMIM:606812 OMIM:300835 OMIM:617981 OMIM:617980 OMIM:133100 OMIM:263300 ORPHA:3202 OMIM:300855 OMIM:102900 ORPHA:309854 OMIM:613280 OMIM:263400
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.