Erythrocytosis, familial, 5(ECYT5)

MedGen UID:: 1638941
•Concept ID:: C4693552
•: Disease or Syndrome

Synonyms:	ECYT5; ERYTHROCYTOSIS, FAMILIAL, 5

Gene (location): Gene(s) directly associated with this condition or phenotype.	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.

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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.

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Increased circulating hemoglobin concentration

MedGen UID:: 108199
•Concept ID:: C0549448
•: Finding

Concentration of hemoglobin in the blood circulation above the upper limit of normal.

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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.

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