Erythrocytosis, Familial, 4 malady
Categories: Genetic diseases, Blood diseases, Rare diseases
Aliases & Descriptions for Erythrocytosis, Familial, 4:
erythrocytosis, familial, 4:
Inheritance: autosomal dominant inheritance
Global: Genetic diseases, Rare diseases
Anatomical: Blood diseases
UniProtKB/Swiss-Prot:68 Erythrocytosis, familial, 4: An autosomal dominant disorder characterized by increased serum red blood cell mass, elevated serum hemoglobin and hematocrit, and normal platelet and leukocyte counts.
MalaCards based summary: Erythrocytosis, Familial, 4, also known as familial erythrocytosis 4, is related to erythrocytosis, somatic, and has symptoms including increased hematocrit and increased hemoglobin. An important gene associated with Erythrocytosis, Familial, 4 is EPAS1 (Endothelial PAS Domain Protein 1).
OMIM:50 Familial erythrocytosis-4 is an autosomal dominant disorder characterized by increased serum red blood cell mass and... (611783) more...
Diseases in the Erythrocytosis, Familial, 2 family:
Diseases related to Erythrocytosis, Familial, 4 via text searches within MalaCards or GeneCards Suite gene sharing:
UniProtKB/Swiss-Prot genetic disease variations for Erythrocytosis, Familial, 4:68
Clinvar genetic disease variations for Erythrocytosis, Familial, 4:5
Search GEO for disease gene expression data for Erythrocytosis, Familial, 4.
29ICD10 via Orphanet
38MESH via Orphanet
51OMIM via Orphanet
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
67UMLS via Orphanet