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Somatic erythrocytosis

Somatic erythrocytosis is caused by somatic mutations of the JAK2 gene and characterized by an elevation of red blood cell counts in peripheral blood.

Systematic

Hereditary malign blood disorders
Acute myeloid leukemia
Juvenile myelomonocytic leukemia
Lymphoproliferative syndrome
Myelodysplastic syndrome
Myelofibrosis
Non-Hodgkin lymphoma
Noonan syndrome-like disorder and juvenile myelomonocytic leukemia
Polycythemia vera
Somatic erythrocytosis
JAK2
Susceptibility to acute myeloid leukemia
Susceptibility to myelodysplastic syndrome

References:

1.

None (1975) Familial polycythemia.

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2.

Bento C et al. (2014) Genetic basis of congenital erythrocytosis: mutation update and online databases.

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3.

Gregg XT et al. (2005) Recent advances in the molecular biology of congenital polycythemias and polycythemia vera.

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4.

None (2005) Polycythemia vera and other primary polycythemias.

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5.

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

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6.

Kralovics R et al. (1998) Absence of polycythemia in a child with a unique erythropoietin receptor mutation in a family with autosomal dominant primary polycythemia.

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7.

Kralovics R et al. (1997) Two new EPO receptor mutations: truncated EPO receptors are most frequently associated with primary familial and congenital polycythemias.

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8.

de la Chapelle A et al. (1993) Familial erythrocytosis genetically linked to erythropoietin receptor gene.

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9.

Distelhorst CW et al. (1981) Autosomal Dominant familial erythrocytosis due to autonomous erythropoietin production.

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10.

Cassileth PA et al. (1966) Benign familial erythrocytosis. Report of three cases and a review of the literature.

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11.

None (1969) Polycythemia resulting from abnormal hemoglobins.

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12.

Geary CG et al. (1967) Benign familial polycythaemia.

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13.

None () Familial polycythemia.

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14.

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

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15.

Prchal JT et al. (1985) Autosomal dominant polycythemia.

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16.

Juvonen E et al. (1991) Autosomal dominant erythrocytosis caused by increased sensitivity to erythropoietin.

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17.

Emanuel PD et al. (1992) Familial and congenital polycythemia in three unrelated families.

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18.

Dainiak N et al. (1979) Erythropoietin-dependent primary pure erythrocytosis.

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19.

OMIM.ORG article

Omim 133100 external link
Update: Aug. 14, 2020
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