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Familial erythrocytosis

MedGen UID:: 57520
•Concept ID:: C0152264
•: Disease or Syndrome

Synonym:	Familial polycythemia
SNOMED CT:	Hereditary pure erythrocytosis (17342003); Familial polycythemia (17342003); Familial erythrocytosis (17342003)

Related genes: Gene(s) associated with related conditions. For conditions in a hierarchy, the parent condition will list the genes associated with the children conditions.	EGLN1, SH2B3, VHL, JAK2, EPOR, EPAS1

Monarch Initiative:	MONDO:0001115
OMIM® Phenotypic series:	PS133100

Definition

Polycythemia that occurs in groups of related individuals. [from NCI]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVFamilial erythrocytosis

Phenotypic abnormality
- Abnormality of blood and blood-forming tissues
  - Abnormal erythrocyte morphology
    - Polycythemia
      - Polycythemia (Excluding Polycythemia Vera)
        Familial erythrocytosis
        Chuvash polycythemia
        Erythrocytosis, familial, 3
        Erythrocytosis, familial, 4
        Primary familial polycythemia due to EPO receptor mutation

Professional guidelines

PubMed

Hemoglobin Andrew-Minneapolis-Bijnor HBB:c.[413T>C;435G>C] in a complex genotype with β-thalassemia trait: A diagnostic and management conundrum.

Khaire NS, Jamwal M, Sharma P, Hira JK, Chhabra S, Malhotra P, Das R
Int J Lab Hematol 2022 Aug;44(4):e164-e167. Epub 2022 Mar 9 doi: 10.1111/ijlh.13821. PMID: 35266307

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: 22274579 Free PMC Article

See all (2)

Recent clinical studies

Etiology

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: 35960118 Free PMC Article

Familial erythrocytosis 2 and von Hippel-Lindau disease in the same pediatric patient.

Núñez-Martínez PM, Taja-Chayeb L, Ramírez-Otero MA, Fragoso-Ontiveros V, Wegman-Ostrosky T, Cruz-Robles D, Vidal Millán S
Bol Med Hosp Infant Mex 2021 May 3;78(4):341-345. doi: 10.24875/BMHIM.20000129. PMID: 33938902

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: 33370224 Free PMC Article

Idiopathic erythrocytosis: a study of a large cohort with a long follow-up.

Randi ML, Bertozzi I, Cosi E, Santarossa C, Peroni E, Fabris F
Ann Hematol 2016 Jan;95(2):233-7. Epub 2015 Nov 7 doi: 10.1007/s00277-015-2548-z. PMID: 26547864

"Benign erythrocytosis" and other familial and congenital polycythemias.

Prchal JT, Sokol L
Eur J Haematol 1996 Oct;57(4):263-8. PMID: 8982288

See all (7)

Diagnosis

Familial erythrocytosis 2 and von Hippel-Lindau disease in the same pediatric patient.

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: 33370224 Free PMC Article

Genetic variability of hypoxia-inducible factor alpha (HIFA) genes in familial erythrocytosis: Analysis of the literature and genome databases.

Kristan A, Debeljak N, Kunej T
Eur J Haematol 2019 Oct;103(4):287-299. Epub 2019 Aug 23 doi: 10.1111/ejh.13304. PMID: 31376207

Idiopathic erythrocytosis: a study of a large cohort with a long follow-up.

Randi ML, Bertozzi I, Cosi E, Santarossa C, Peroni E, Fabris F
Ann Hematol 2016 Jan;95(2):233-7. Epub 2015 Nov 7 doi: 10.1007/s00277-015-2548-z. PMID: 26547864

"Benign erythrocytosis" and other familial and congenital polycythemias.

Prchal JT, Sokol L
Eur J Haematol 1996 Oct;57(4):263-8. PMID: 8982288

See all (26)

Therapy

Regulation of Erythropoiesis by the Hypoxia-Inducible Factor Pathway: Effects of Genetic and Pharmacological Perturbations.

Semenza GL
Annu Rev Med 2023 Jan 27;74:307-319. Epub 2022 Jun 30 doi: 10.1146/annurev-med-042921-102602. PMID: 35773226

Myelofibrosis with complex chromosome abnormality in a patient with erythrocytosis due to hemoglobin Rainier and treated with 32P.

Najfeld V, Price TH, Adamson JW, Fialkow PJ
Am J Hematol 1978;5(1):63-9. doi: 10.1002/ajh.2830050109. PMID: 747183

See all (2)

Prognosis

EPAS1 p.M535T mutation in a Bulgarian family with congenital erythrocytosis.

Alaikov T, Ivanova M, Shivarov V
Hematology 2016 Dec;21(10):619-622. Epub 2016 Jun 13 doi: 10.1080/10245332.2016.1192394. PMID: 27292716

Idiopathic erythrocytosis: a study of a large cohort with a long follow-up.

Randi ML, Bertozzi I, Cosi E, Santarossa C, Peroni E, Fabris F
Ann Hematol 2016 Jan;95(2):233-7. Epub 2015 Nov 7 doi: 10.1007/s00277-015-2548-z. PMID: 26547864

Linking tissues to phenotypes using gene expression profiles.

Oellrich A; Sanger Mouse Genetics Project, Smedley D
Database (Oxford) 2014;2014:bau017. Epub 2014 Mar 13 doi: 10.1093/database/bau017. PMID: 24634472 Free PMC Article

A basic classification and a comprehensive examination of pediatric myeloproliferative syndromes.

Gassas A, Doyle JJ, Weitzman S, Freedman MH, Hitzler JK, Sharathkumar A, Dror Y
J Pediatr Hematol Oncol 2005 Apr;27(4):192-6. doi: 10.1097/01.mph.0000159934.35079.b5. PMID: 15838389

"Benign erythrocytosis" and other familial and congenital polycythemias.

Prchal JT, Sokol L
Eur J Haematol 1996 Oct;57(4):263-8. PMID: 8982288

See all (6)

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: 37239426 Free PMC Article

Effects of idiopathic erythrocytosis on the left ventricular diastolic functions and the spectrum of genetic mutations: A case control study.

A Gain-of-Function Mutation in EPO in Familial Erythrocytosis.

Zmajkovic J, Lundberg P, Nienhold R, Torgersen ML, Sundan A, Waage A, Skoda RC
N Engl J Med 2018 Mar 8;378(10):924-930. doi: 10.1056/NEJMoa1709064. PMID: 29514032

Linking tissues to phenotypes using gene expression profiles.

Oellrich A; Sanger Mouse Genetics Project, Smedley D
Database (Oxford) 2014;2014:bau017. Epub 2014 Mar 13 doi: 10.1093/database/bau017. PMID: 24634472 Free PMC Article

Cellular oxygen sensing: Crystal structure of hypoxia-inducible factor prolyl hydroxylase (PHD2).

McDonough MA, Li V, Flashman E, Chowdhury R, Mohr C, Liénard BM, Zondlo J, Oldham NJ, Clifton IJ, Lewis J, McNeill LA, Kurzeja RJ, Hewitson KS, Yang E, Jordan S, Syed RS, Schofield CJ
Proc Natl Acad Sci U S A 2006 Jun 27;103(26):9814-9. Epub 2006 Jun 16 doi: 10.1073/pnas.0601283103. PMID: 16782814 Free PMC Article

See all (13)

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Familial erythrocytosis

Definition

Term Hierarchy

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Supplemental Content

Table of contents

Genetic Testing Registry

Clinical resources

Practice guidelines

Consumer resources

Reviews

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