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Familial erythrocytosis 2

Familial Erythrocytosis 2 is an autosomal recessive disorder caused by mutations of the VHL gene. Mutations of that von Hippel-Lindau gene cause increased transcription of hypoxia-inducible genes. This condition is quite benign.

Systematic

Hereditary diseases of the hematopoetic system and coagulopathies
Aplastic anemia
Autoimmune lymphoproliferative syndrome 5
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
Disorders of cobalamin metabolism
Familial erythrocytosis 2
VHL
Familial hemophagocytic lymphohistiocytosis
H syndrome
Hereditary bleeding disorders
Hereditary malign blood disorders
Inheritable platelet disorders
MIRAGE syndrome
Ovalocytosis
Paroxysmal nocturnal hemoglobinuria
Retinitis pigmentosa and erythrocytic microcytosis
Thromboembolic diseases
Vasculitis due to ADA2 deficiency

References:

1.

Ang SO et al. (2002) Disruption of oxygen homeostasis underlies congenital Chuvash polycythemia.

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2.

Sergeyeva A et al. (1997) Congenital polycythemia in Chuvashia.

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3.

Greenberg BR et al. (1977) Erythropoiesis in familial erythrocytosis.

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4.

Whitcomb WH et al. (1980) Congenital erythrocytosis: a new form associated with an erythropoietin-dependent mechanism.

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5.

Davey MG et al. (1968) Femilial erythrocytosis. A report of two cases, and a review.

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6.

Adamson JW et al. (1973) Recessive familial erythrocytosis: aspects of marrow regulation in two families.

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7.

Kolik LM et al. (1974) [Comparative evaluation of the velocity of cerebrovascular circulation according to data of radiocirculography in patients with erythremia and anemia].

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8.

AUERBACK ML et al. (1958) Benign familial polycythemia in childhood; report of two cases.

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9.

Ang SO et al. () Endemic polycythemia in Russia: mutation in the VHL gene.

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10.

None (2005) Polycythemia vera and other primary polycythemias.

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11.

None (2005) Childhood polycythemias/erythrocytoses: classification, diagnosis, clinical presentation, and treatment.

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12.

Yonemitsu H et al. (1973) Two cases of familial erythrocytosis with increased erythropoietin activity in plasma and urine.

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13.

Russell RC et al. (2011) Loss of JAK2 regulation via a heterodimeric VHL-SOCS1 E3 ubiquitin ligase underlies Chuvash polycythemia.

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14.

Hickey MM et al. (2007) von Hippel-Lindau mutation in mice recapitulates Chuvash polycythemia via hypoxia-inducible factor-2alpha signaling and splenic erythropoiesis.

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15.

Perrotta S et al. (2006) Von Hippel-Lindau-dependent polycythemia is endemic on the island of Ischia: identification of a novel cluster.

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16.

Cario H et al. (2005) Mutations in the von Hippel-Lindau (VHL) tumor suppressor gene and VHL-haplotype analysis in patients with presumable congenital erythrocytosis.

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17.

Gordeuk VR et al. (2004) Congenital disorder of oxygen sensing: association of the homozygous Chuvash polycythemia VHL mutation with thrombosis and vascular abnormalities but not tumors.

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18.

Liu E et al. (2004) The worldwide distribution of the VHL 598C>T mutation indicates a single founding event.

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19.

Pastore Y et al. (2003) Mutations of von Hippel-Lindau tumor-suppressor gene and congenital polycythemia.

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20.

Percy MJ et al. (2003) Chuvash-type congenital polycythemia in 4 families of Asian and Western European ancestry.

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21.

Vasserman NN et al. (1999) Localization of the gene responsible for familial benign polycythemia to chromosome 11q23.

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22.

Orphanet article

Orphanet ID 98427 external link
23.

OMIM.ORG article

Omim 263400 external link
Update: Aug. 14, 2020
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