Erythrocytosis, familial, 4
Therapeutic area
Hematology
Rare disease
No
- Definition
- Any familial polycythemia in which the cause of the disease is a mutation in the EPAS1 gene.
- Genetic basis
- Yes
- Non-human condition
- No
- Rare disease
- No
- Listing at source
- Listed
- Condition name
- Erythrocytosis, familial, 4
- Therapeutic area
- Hematology
- erythrocytosis, familial, 4
- EPAS1 familial polycythemia
- erythrocytosis, familial, 4
- erythrocytosis, familial, type 4
- familial polycythemia caused by mutation in EPAS1
- ECYT4
- Severity
- Mild
- Genetic
- Hereditary
- Hematology
- Immunology
- Rheumatology
- MONDO ID
- MONDO:0012729
- Parent condition
- MONDO:0001115
Related records
Broader conditions (13)
- Bone marrow disorder
- Disease
- Disease by body system or component
- Disease by etiologic mechanism
- Disease of genetic or genomic mechanism
- Familial polycythemia
- Hematologic disorder
- Hereditary disease
- Human disease
- Immune system disorder
- Musculoskeletal system disorder
- Polycythemia
- Skeletal system disorder
Trials (2)
- A Phase 1 Study of AB521 Monotherapy and Combination Therapies in Renal Cell Carcinoma and Other Solid Tumors
- Assessment of Salivary Biomarker Levels in Individuals With Various Periodontal Diseases