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primary familial and congenital Polycythemia

A hereditary form of polycythemia (increased red blood cell mass) that is characterized by hypersensitivity of erythroid cells to ERYTHROPOIETIN. It is caused by mutations in the ERYTHROPOIETIN RECEPTOR (EPOR) gene. OMIM: 133100
Also Known As:
Polycythemia, primary familial and congenital; Benign Familial Polycythemia; Congenital Erythrocytosis; ECYT1 familial erythrocytosis-1; Erythrocytosis autosomal dominant benign; Erythrocytosis familial, 1; Erythrocytosis, Autosomal Dominant Benign; Erythrocytosis, Familial, 1; Familial Erythrocytosis; Familial Polycythemia; Familial erythrocytosis, 1; Hereditary Erythrocytosis; Primary Familial Polycythemia
Networked: 96 relevant articles (1 outcomes, 1 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1. Polycythemia (Erythrocytosis)
2. Hypersensitivity (Allergy)
3. primary familial and congenital Polycythemia
4. Polycythemia Vera
5. Neoplasms (Cancer)

Experts

1. McMullin, Mary Frances: 5 articles (01/2021 - 01/2006)
2. Debeljak, Nataša: 4 articles (11/2021 - 04/2019)
3. Kunej, Tanja: 4 articles (11/2021 - 04/2019)
4. Bento, Celeste: 4 articles (06/2018 - 10/2013)
5. Prchal, Josef T: 4 articles (01/2016 - 11/2003)
6. Percy, Melanie J: 4 articles (01/2014 - 01/2006)
7. Kristan, Aleša: 3 articles (11/2021 - 10/2019)
8. Lee, Frank S: 3 articles (01/2019 - 01/2006)
9. Casadevall, Nicole: 3 articles (01/2018 - 01/2012)
10. Gardie, Betty: 3 articles (01/2014 - 12/2008)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to primary familial and congenital Polycythemia:
1. EnzymesIBA
2. IronIBA
3. ErythropoietinFDA Link
4. Oxygen (Dioxygen)IBA
5. Erythropoietin Receptors (Erythropoietin Receptor)IBA
6. Hemoglobins (Hemoglobin)IBA
7. Prolyl Hydroxylases (Prolyl Hydroxylase)IBA
8. Proteins (Proteins, Gene)FDA Link
9. Peptides (Polypeptides)IBA
10. Amino AcidsFDA Link

Therapies and Procedures

1. Stem Cell Transplantation
2. Therapeutics