Erythrocytosis, familial, 2

Preferred Label : Erythrocytosis, familial, 2;

Symbol : ECYT2;

CISMeF acronym : ECYT2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Polycythemia, vhl-dependent;

Included titles and symbols : Polycythemia, chuvash type;

Description : Familial erythrocytosis-2 is an autosomal recessive disorder characterized by increased red blood cell mass, increased serum levels of erythropoietin (EPO; 133170), and normal oxygen affinity. Patients with ECYT2 carry a high risk for peripheral thrombosis and cerebrovascular events (Cario, 2005). Familial erythrocytosis-2 has features of both primary and secondary erythrocytosis. In addition to increased circulating levels of EPO, consistent with a secondary, extrinsic process, erythroid progenitors are also hypersensitive to EPO, consistent with a primary, intrinsic process (Prchal, 2005).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the VHL gene (VHL, 608537.0014);

Laboratory abnormalities : Increased serum erythropoietin (EPO, 133170); Increased serum vascular endothelial growth factor (VEGF, 192240); Increased serum plasminogen activator inhibitor-1 (PAI1, 173360); Normal leukocyte and platelet counts;

Prefixed ID : #263400;

Details

Origin ID

263400;

UMLS CUI

C1837915;

Currated CISMeF NLP mapping
- Chuvash erythrocytosis [ORDO Disease]
- Chuvash erythrocytosis (disorder) [SNOMED CT concept]
- Polycythaemia due to VHL mutation [ICD-11 More detail]
- erythrocytosis, familial, 2 [MeSH concept]
- erythrocytosis, familial, 2 [MeSH Supplementary Concept]
- familial erythrocytosis 2 [DO Concept]
DO Cross reference
- familial erythrocytosis 2 [DO Concept]
Genes related to phenotype
- Von hippel-lindau tumor suppressor [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Cerebral hemorrhage [HPO term]
- Cerebrovascular accident [HPO term]
- Childhood onset [HPO term]
- Elevated circulating erythropoietin concentration [HPO term]
- Failure to thrive [HPO term]
- Fatigue [HPO term]
- Headache [HPO term]
- Hemangioma [HPO term]
- Hypotension [HPO term]
- Increased hematocrit [HPO term]
- Increased hemoglobin [HPO term]
- Increased red blood cell mass [HPO term]
- Juvenile onset [HPO term]
- Peripheral thrombosis [HPO term]
- Plethora [HPO term]
- Pulmonary arterial hypertension [HPO term]
- Stroke [HPO term]
- Varicose veins [HPO term]
ORDO concept(s)
- Chuvash erythrocytosis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Chuvash erythrocytosis [ORDO Disease]
- erythrocytosis, familial, 2 [MeSH Supplementary Concept]
- erythrocytosis, familial, 2 [MeSH concept]
- familial erythrocytosis 2 [DO Concept]

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