eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| primary familial polycythemia | ||||
| Disease ID | 1127 |
|---|---|
| Disease | primary familial polycythemia |
| Definition | Polycythemia that occurs in groups of related individuals. |
| Synonym | benign familial polycythemia congenital erythrocytosis ecyt1 erythrocytosis - familial erythrocytosis autosomal dominant benign erythrocytosis familial, 1 erythrocytosis, autosomal dominant benign erythrocytosis, familial, 1 erythrocytosis, primary familial erythropoietin polycythemia essential hypererythropoietinemia familial benign polycythemia familial erythrocytosis familial erythrocytosis (disorder) familial erythrocytosis, 1 familial polycythaemia familial polycythemia hereditary erythrocytosis hereditary pure erythrocytosis pfcp polycythemia, benign familial polycythemia, primary familial and congenital |
| Orphanet | |
| OMIM | |
| DOID | |
| ICD10 | |
| UMLS | C0152264 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:1) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:5) |
| Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Text Mined Gene | (Waiting for update.) |
| Locus | Symbol | Locus(Total Locus:1) EPOR | 19p13.2 |
| Disease ID | 1127 |
|---|---|
| Disease | primary familial polycythemia |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:15) HP:0001892 | Abnormal bleeding HP:0002829 | Arthralgia HP:0002094 | Dyspnea HP:0000421 | Epistaxis HP:0002321 | Vertigo HP:0002875 | Exertional dyspnea HP:0004936 | Venous thrombosis HP:0012378 | Fatigue HP:0002027 | Abdominal pain HP:0001901 | Polycythemia HP:0000989 | Pruritus HP:0011902 | Abnormal hemoglobin HP:0001907 | Thromboembolism HP:0012735 | Cough HP:0002315 | Headache |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:1) |
| Disease ID | 1127 |
|---|---|
| Disease | primary familial polycythemia |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:4) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs137853036 | 23716564 | 2034 | EPAS1 | umls:C0152264 | BeFree | We describe here the identification of two cases of familial erythrocytosis associated with heterozygous HIF2A missense mutations, namely Ile533Val and Gly537Arg. | 0.001357209 | 2014 | EPAS1 | 2 | 46380281 | G | A,T |
| rs142094773 | 8174675 | 2057 | EPOR | umls:C0152264 | UNIPROT | Mutation in the negative regulatory element of the erythropoietin receptor gene in a case of sporadic primary polycythemia. | 0.445352893 | 1994 | EPOR | 19 | 11378049 | G | A |
| rs62638745 | 8608241 | 2057 | EPOR | umls:C0152264 | UNIPROT | Missense mutation of the erythropoietin receptor is a rare event in human erythroid malignancies. | 0.445352893 | 1996 | EPOR | 19 | 11378051 | T | C |
| rs80358193 | 17933562 | 54583 | EGLN1 | umls:C0152264 | BeFree | Recently, a missense mutation [c.950C>G (p.Pro317Arg)] in the prolyl hydroxylase domain protein 2 (PHD2) gene, whose encoded protein has HIF-1alpha as a substrate, provided evidence of the PHD2 role in a case of familial erythrocytosis. | 0.001900093 | 2008 | EGLN1 | 1 | 231374041 | G | C |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:2) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001892 | Abnormal bleeding | MP:0005606 | increased bleeding time | greater than the normal duration of blood flow after skin puncture; indicative of platelet and capillary function |
| HP:0011902 | Abnormal hemoglobin | MP:0001589 | abnormal mean corpuscular hemoglobin | anomalies in the average levels of hemoglobin contained in an erythrocyte |
Mapped by homologous gene(Total Items:15) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000421 | Epistaxis | MP:0020215 | impaired blood coagulation | impaired ability of the blood to clot |
| HP:0001907 | Thromboembolism | MP:0014179 | abnormal blood-retinal barrier function | anomaly in the function of the part of the blood-ocular barrier that consists of cells that are joined tightly together to prevent certain substances from entering the tissue of the retina; the BRB consists of non-fenestrated capillaries of the retinal ci |
| HP:0004936 | Venous thrombosis | MP:0014166 | ectopic cranial bone | the appearance of an extra bone structure at an atypical location in or near the cranium |
| HP:0002094 | Dyspnea | MP:0014185 | cerebellum atrophy | acquired diminution of the size of the cerebellum associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal |
| HP:0012735 | Cough | MP:0014185 | cerebellum atrophy | acquired diminution of the size of the cerebellum associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal |
| HP:0002829 | Arthralgia | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0001901 | Polycythemia | MP:0013241 | embryo tissue necrosis | morphological changes resulting from pathological death of some or all embryo tissue; usually due to irreversible damage |
| HP:0002315 | Headache | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002027 | Abdominal pain | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0000989 | Pruritus | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001892 | Abnormal bleeding | MP:0020138 | delayed bone mineralization | late onset of the process by which minerals are deposited into bone |
| HP:0011902 | Abnormal hemoglobin | MP:0011101 | prenatal lethality, incomplete penetrance | the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between fertilization and birth (Mus: approximately E18.5) |
| HP:0002875 | Exertional dyspnea | MP:0013405 | increased circulating lactate level | greater amount of lactate in the blood which is produced from pyruvate by lactate dehydrogenase |
| HP:0012378 | Fatigue | MP:0013659 | abnormal erythroid lineage cell morphology | any structural anomaly of an immature or mature cell in the lineage leading to and including erythrocytes |
| HP:0002321 | Vertigo | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| Disease ID | 1127 |
|---|---|
| Disease | primary familial polycythemia |
| Case | (Waiting for update.) |