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Erythrocytosis, familial, 5(ECYT5)

MedGen UID:
1638941
•Concept ID:
C4693552
•
Disease or Syndrome
Synonyms: ECYT5; ERYTHROCYTOSIS, FAMILIAL, 5
 
Gene (location): EPO (7q22.1)
 
Monarch Initiative: MONDO:0033483
OMIM®: 617907

Definition

Erythrocytosis-5 (ECYT5) is an autosomal dominant disorder characterized by increased red cell mass and typically elevated hemoglobin concentration and hematocrit. Some patients have increased serum EPO levels (summary by Zmajkovic et al., 2018). For a general phenotypic description and a discussion of genetic heterogeneity of familial erythrocytosis, see ECYT1 (133100). [from OMIM]

Clinical features

From HPO
Polycythemia
MedGen UID:
18552
•Concept ID:
C0032461
•
Disease or Syndrome
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.
See: Feature record | Search on this feature
Increased hematocrit
MedGen UID:
68692
•Concept ID:
C0239935
•
Finding
An elevation above the normal ratio of the volume of red blood cells to the total volume of blood.
See: Feature record | Search on this feature
Increased circulating hemoglobin concentration
MedGen UID:
108199
•Concept ID:
C0549448
•
Finding
Concentration of hemoglobin in the blood circulation above the upper limit of normal.
See: Feature record | Search on this feature
Elevated circulating erythropoietin concentration
MedGen UID:
1784401
•Concept ID:
C5539741
•
Finding
Increased concentration of erythropoietin in the blood circulation. Erythropoietin is a glycoprotein hormone produced by the peritubular cells of the kidney that stimulates red blood cell production.
See: Feature record | Search on this feature
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Professional guidelines

PubMed

Clinical utility gene card for: familial erythrocytosis.
Hussein K, Percy M, McMullin MF
Eur J Hum Genet 2012 May;20(5) Epub 2012 Jan 25 doi: 10.1038/ejhg.2011.252. PMID: 22274579Free PMC Article
The revised WHO diagnostic criteria for Ph-negative myeloproliferative diseases are not appropriate for the diagnostic screening of childhood polycythemia vera and essential thrombocythemia.
Teofili L, Giona F, Martini M, Cenci T, Guidi F, Torti L, Palumbo G, Amendola A, Leone G, Foà R, Larocca LM
Blood 2007 Nov 1;110(9):3384-6. Epub 2007 Jul 20 doi: 10.1182/blood-2007-06-094276. PMID: 17644735
The classification and diagnostic criteria of the erythrocytoses (polycythaemias).
Messinezy M, Pearson TC
Clin Lab Haematol 1999 Oct;21(5):309-16. doi: 10.1046/j.1365-2257.1999.00246.x. PMID: 10646073

Recent clinical studies

Etiology

High-oxygen-affinity hemoglobinopathy-associated erythrocytosis: Clinical outcomes and impact of therapy in 41 cases.
Gangat N, Oliveira JL, Hoyer JD, Patnaik MM, Pardanani A, Tefferi A
Am J Hematol 2021 Dec 1;96(12):1647-1654. Epub 2021 Oct 19 doi: 10.1002/ajh.26375. PMID: 34633117
Erythrocytosis: genes and pathways involved in disease development.
Gašperšič J, Kristan A, Kunej T, Zupan IP, Debeljak N
Blood Transfus 2021 Nov;19(6):518-532. Epub 2020 Dec 16 doi: 10.2450/2020.0197-20. PMID: 33370224Free PMC Article
Myeloproliferative neoplasms: Current molecular biology and genetics.
Saeidi K
Crit Rev Oncol Hematol 2016 Feb;98:375-89. Epub 2015 Nov 28 doi: 10.1016/j.critrevonc.2015.11.004. PMID: 26697989
Thrombocytosis in children.
Chiarello P, Magnolia M, Rubino M, Liguori SA, Miniero R
Minerva Pediatr 2011 Dec;63(6):507-13. PMID: 22075805
"Benign erythrocytosis" and other familial and congenital polycythemias.
Prchal JT, Sokol L
Eur J Haematol 1996 Oct;57(4):263-8. PMID: 8982288

Diagnosis

Diagnosis and genetic analysis of polycythemia in children and a novel EPAS1 gene mutation.
Cakmak HM, Kartal O, Kocaaga A, Bildirici Y
Pediatr Neonatol 2022 Nov;63(6):613-617. Epub 2022 Aug 6 doi: 10.1016/j.pedneo.2022.06.006. PMID: 36002380
Erythrocytosis: genes and pathways involved in disease development.
Gašperšič J, Kristan A, Kunej T, Zupan IP, Debeljak N
Blood Transfus 2021 Nov;19(6):518-532. Epub 2020 Dec 16 doi: 10.2450/2020.0197-20. PMID: 33370224Free PMC Article
Thrombocytosis in children.
Chiarello P, Magnolia M, Rubino M, Liguori SA, Miniero R
Minerva Pediatr 2011 Dec;63(6):507-13. PMID: 22075805
JAK2 exon 12 mutations in polycythemia vera and idiopathic erythrocytosis.
Scott LM, Tong W, Levine RL, Scott MA, Beer PA, Stratton MR, Futreal PA, Erber WN, McMullin MF, Harrison CN, Warren AJ, Gilliland DG, Lodish HF, Green AR
N Engl J Med 2007 Feb 1;356(5):459-68. doi: 10.1056/NEJMoa065202. PMID: 17267906Free PMC Article
"Benign erythrocytosis" and other familial and congenital polycythemias.
Prchal JT, Sokol L
Eur J Haematol 1996 Oct;57(4):263-8. PMID: 8982288

Therapy

High-oxygen-affinity hemoglobinopathy-associated erythrocytosis: Clinical outcomes and impact of therapy in 41 cases.
Gangat N, Oliveira JL, Hoyer JD, Patnaik MM, Pardanani A, Tefferi A
Am J Hematol 2021 Dec 1;96(12):1647-1654. Epub 2021 Oct 19 doi: 10.1002/ajh.26375. PMID: 34633117
Properties of FDA-approved small molecule protein kinase inhibitors: A 2020 update.
Roskoski R Jr
Pharmacol Res 2020 Feb;152:104609. Epub 2019 Dec 17 doi: 10.1016/j.phrs.2019.104609. PMID: 31862477
Pregnancy with Chuvash Polycythaemia and Other Congenital Erythrocytosis.
Dewarrat N, Kaiser J, Baud D, Alberio L, Gavillet M
Acta Haematol 2020;143(1):69-72. Epub 2019 Jun 5 doi: 10.1159/000499861. PMID: 31167179
Hematopoietic Cell Transplantation as Curative Therapy for Patients with Myelofibrosis: Long-Term Success in all Age Groups.
Deeg HJ, Bredeson C, Farnia S, Ballen K, Gupta V, Mesa RA, Popat U, Hari P, Saber W, Seftel M, Tamari R, Petersdorf EW
Biol Blood Marrow Transplant 2015 Nov;21(11):1883-7. Epub 2015 Sep 11 doi: 10.1016/j.bbmt.2015.09.005. PMID: 26371371Free PMC Article
Hepatic vein thrombosis (Budd Chiari syndrome): possible association with the use of oral contraceptives.
Maddrey WC
Semin Liver Dis 1987 Feb;7(1):32-9. doi: 10.1055/s-2008-1040561. PMID: 3296214

Prognosis

Gene expression profile correlates with molecular and clinical features in patients with myelofibrosis.
Rontauroli S, Castellano S, Guglielmelli P, Zini R, Bianchi E, Genovese E, Carretta C, Parenti S, Fantini S, Mallia S, Tavernari L, Sartini S, Mirabile M, Mannarelli C, Gesullo F, Pacilli A, Pietra D, Rumi E, Salmoiraghi S, Mora B, Villani L, Grilli A, Rosti V, Barosi G, Passamonti F, Rambaldi A, Malcovati L, Cazzola M, Bicciato S, Tagliafico E, Vannucchi AM, Manfredini R
Blood Adv 2021 Mar 9;5(5):1452-1462. doi: 10.1182/bloodadvances.2020003614. PMID: 33666652Free PMC Article
Hematopoietic Cell Transplantation as Curative Therapy for Patients with Myelofibrosis: Long-Term Success in all Age Groups.
Deeg HJ, Bredeson C, Farnia S, Ballen K, Gupta V, Mesa RA, Popat U, Hari P, Saber W, Seftel M, Tamari R, Petersdorf EW
Biol Blood Marrow Transplant 2015 Nov;21(11):1883-7. Epub 2015 Sep 11 doi: 10.1016/j.bbmt.2015.09.005. PMID: 26371371Free PMC Article
Familial risk of small intestinal carcinoid and adenocarcinoma.
Kharazmi E, Pukkala E, Sundquist K, Hemminki K
Clin Gastroenterol Hepatol 2013 Aug;11(8):944-9. Epub 2013 Mar 15 doi: 10.1016/j.cgh.2013.02.025. PMID: 23500615
Signal transduction in the erythropoietin receptor system.
Wojchowski DM, Gregory RC, Miller CP, Pandit AK, Pircher TJ
Exp Cell Res 1999 Nov 25;253(1):143-56. doi: 10.1006/excr.1999.4673. PMID: 10579919
"Benign erythrocytosis" and other familial and congenital polycythemias.
Prchal JT, Sokol L
Eur J Haematol 1996 Oct;57(4):263-8. PMID: 8982288

Clinical prediction guides

Germline JAK2 E846D Substitution as the Cause of Erythrocytosis?
Maaziz N, Garrec C, Airaud F, Bobée V, Contentin N, Cayssials E, Rimbert A, Aral B, Bézieau S, Gardie B, Girodon F
Genes (Basel) 2023 May 11;14(5) doi: 10.3390/genes14051066. PMID: 37239426Free PMC Article
Effects of idiopathic erythrocytosis on the left ventricular diastolic functions and the spectrum of genetic mutations: A case control study.
Yesilaltay A, Degirmenci H, Bilgen T, Sirin DY, Bayir D, Degirmenci P, Tekinalp A, Alpsoy S, Okuturlar Y, Turgut B
Medicine (Baltimore) 2022 Aug 12;101(32):e29881. doi: 10.1097/MD.0000000000029881. PMID: 35960118Free PMC Article
Gene expression profile correlates with molecular and clinical features in patients with myelofibrosis.
Rontauroli S, Castellano S, Guglielmelli P, Zini R, Bianchi E, Genovese E, Carretta C, Parenti S, Fantini S, Mallia S, Tavernari L, Sartini S, Mirabile M, Mannarelli C, Gesullo F, Pacilli A, Pietra D, Rumi E, Salmoiraghi S, Mora B, Villani L, Grilli A, Rosti V, Barosi G, Passamonti F, Rambaldi A, Malcovati L, Cazzola M, Bicciato S, Tagliafico E, Vannucchi AM, Manfredini R
Blood Adv 2021 Mar 9;5(5):1452-1462. doi: 10.1182/bloodadvances.2020003614. PMID: 33666652Free PMC Article
Signal transduction in the erythropoietin receptor system.
Wojchowski DM, Gregory RC, Miller CP, Pandit AK, Pircher TJ
Exp Cell Res 1999 Nov 25;253(1):143-56. doi: 10.1006/excr.1999.4673. PMID: 10579919
Familial myeloproliferative syndrome.
Pérez-Encinas M, Bello JL, Pérez-Crespo S, De Miguel R, Tome S
Am J Hematol 1994 Jul;46(3):225-9. doi: 10.1002/ajh.2830460312. PMID: 8192153

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