Erythrocytosis, familial, 1

Preferred Label : Erythrocytosis, familial, 1;

Symbol : ECYT1;

CISMeF acronym : ECYT1; PFCP;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : PFCP; Polycythemia, primary familial and congenital; Erythrocytosis, autosomal dominant benign;

Description : Familial erythrocytosis-1 is an autosomal dominant disorder characterized by increased serum red blood cell mass and hemoglobin concentration, hypersensitivity of erythroid progenitors to EPO, and low serum levels of EPO. There is no increase in platelets or leukocytes and the disorder does not progress to leukemia (Kralovics et al., 1998). - Genetic Heterogeneity of Familial Erythrocytosis See also ECYT2 (263400), caused by mutation in the VHL gene (608537) on chromosome 3p25; ECYT3 (609820), caused by mutation in the EGLN1 gene (606425) on chromosome 1q42; and ECYT4 (611783), caused by mutation in the EPAS1 gene (603349) on chromosome 2p. Erythrocytosis may also be caused by somatic mutation in the JAK2 (147796) or the SH2B3 (605093) gene on chromosome 9p24 and 12q24, respectively.;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the erythropoeitin receptor gene (EPOR, 133171.0001);

Laboratory abnormalities : Low or normal serum erythropoietin;

Prefixed ID : #133100;

Details

Origin ID

133100;

UMLS CUI

C4551637;

Currated CISMeF NLP mapping
- Familial Polycythemia [NCIt concept]
- Familial erythrocytosis [ICD-10 Sub-category (who)]
- Familial erythrocytosis [ICD-10 Sub-category]
- Familial polycythaemia [MedDRA Preferred Term]
- Familial polycythemia [ICD-9 code]
- Familial polycythemia [MedDRA LLT]
- Polycythemia, primary familial and congenital [MeSH concept]
- Primary familial polycythemia [ORDO Disease]
- familial erythrocytosis 1 [DO Concept]
- hereditary pure erythrocytosis [SNOMED Notion]
- polycythemia, primary familial and congenital [MeSH Supplementary Concept]
DO Cross reference
- familial erythrocytosis 1 [DO Concept]
Genes related to phenotype
- Erythropoietin receptor [OMIM gene]
- Janus kinase 2 [OMIM gene]
- Sh2b adaptor protein 3 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Cerebral hemorrhage [HPO term]
- Exertional dyspnea [HPO term]
- Fatigue [HPO term]
- Headache [HPO term]
- Hypertension [HPO term]
- Increased hematocrit [HPO term]
- Increased hemoglobin [HPO term]
- Increased red blood cell mass [HPO term]
- Myocardial infarction [HPO term]
- Peripheral thrombosis [HPO term]
- Plethora [HPO term]
- Splenomegaly [HPO term]
- Vertigo [HPO term]
ORDO concept(s)
- Primary familial polycythemia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Familial Polycythemia [NCIt concept]
- Familial erythrocytosis [ICD-10 Sub-category]
- Familial erythrocytosis (disorder) [SNOMED CT concept]
- Familial polycythaemia [MedDRA Preferred Term]
- Familial polycythemia [MedDRA LLT]
- Familial polycythemia [ICD-9 code]
- Polycythemia, primary familial and congenital [MeSH concept]
- Primary familial polycythemia [ORDO Disease]
- hereditary pure erythrocytosis [SNOMED Notion]
- polycythemia, primary familial and congenital [MeSH Supplementary Concept]
- primary polycythemia [DO Concept]
Validated automatic mappings to NTBT
- Familial erythrocytosis (disorder) [SNOMED CT concept]

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