Details of Disease | DrugMAP

General Information of Disease (ID: DISFVI97)

Disease Name	Primary familial polycythemia due to EPO receptor mutation
Synonyms	erythrocytosis, autosomal dominant benign; autosomal dominant benign erythrocytosis; erythrocytosis autosomal dominant benign; primary familial polycythemia; ECYT1; polycythemia, primary familial and congenital; congenital polycythemia due to erythropoietin receptor mutation; familial erythrocytosis, 1; familial erythrocytosis; EPOR familial polycythemia; familial polycythemia caused by mutation in EPOR; familial erythrocytosis 1; erythrocytosis, familial, 1; congenital erythrocytosis due to erythropoietin receptor mutation; primary familial and congenital polycythemia; erythrocytosis, familial, type 1; primary congenital erythrocytosis; erythrocytosis, somatic; familial erythrocytosis type 1; PFCP
Definition	Primary familial polycythemia is an inherited hematological disorder resulting from mutations in the erythropoietin (EPO) receptor and is characterized by an elevated absolute red blood cell mass caused by uncontrolled red blood cell production in the presence of low EPO levels.\|Editor note: check relation to familial polycythemia
Disease Hierarchy	DISOIGHH: Familial polycythemia DISFVI97: Primary familial polycythemia due to EPO receptor mutation
Disease Identifiers	MONDO ID MONDO_0007572 MESH ID C536842 UMLS CUI C4551637 OMIM ID 133100 MedGen ID 1641215 Orphanet ID 90042

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 8 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
SH2B3	TT36N7Z	No Known	Unknown	[1]
EGLN2	TTMHFRY	Limited	Biomarker	[2]
EPO	TTQG4NR	Limited	Genetic Variation	[3]
HIF1A	TTSN6QU	Limited	Biomarker	[2]
EPAS1	TTWPA54	Strong	Biomarker	[4]
EPOR	TTAUX24	Strong	Autosomal dominant	[5]
HBB	TTM6HK1	Strong	Genetic Variation	[6]
PKLR	TT31N4S	Strong	Biomarker	[2]
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⏷ Show the Full List of 8 DTT(s)

This Disease Is Related to 7 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SH2B3	OT4ALHBQ	No Known	Unknown	[1]
ARHGEF7	OT9BPJCL	Strong	Biomarker	[7]
CBFA2T2	OTNOIB23	Strong	Biomarker	[7]
EPOR	OTUIOEU3	Strong	Autosomal dominant	[5]
HBA1	OTW2BQF4	Strong	Biomarker	[8]
PPP1R12C	OT9Q86JO	Strong	Biomarker	[7]
PPP1R13B	OTC88VQO	Strong	Biomarker	[7]
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⏷ Show the Full List of 7 DOT(s)

References

1	Gene panel sequencing improves the diagnostic work-up of patients with idiopathic erythrocytosis and identifies new mutations. Haematologica. 2016 Nov;101(11):1306-1318. doi: 10.3324/haematol.2016.144063. Epub 2016 Sep 20.
2	Clinical utility gene card for: familial erythrocytosis.Eur J Hum Genet. 2012 May;20(5). doi: 10.1038/ejhg.2011.252. Epub 2012 Jan 25.
3	Genetic variants of erythropoietin (EPO) and EPO receptor genes in familial erythrocytosis.Int J Lab Hematol. 2019 Apr;41(2):162-167. doi: 10.1111/ijlh.12949. Epub 2018 Dec 3.
4	Genotype-Phenotype Correlation of Hereditary Erythrocytosis Mutations, a single center experience.Am J Hematol. 2018 May 23. doi: 10.1002/ajh.25150. Online ahead of print.
5	The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.
6	Hereditary gene mutations in Korean patients with isolated erythrocytosis.Ann Hematol. 2014 Jun;93(6):931-5. doi: 10.1007/s00277-014-2006-3. Epub 2014 Jan 31.
7	Ligand-induced EpoR internalization is mediated by JAK2 and p85 and is impaired by mutations responsible for primary familial and congenital polycythemia.Blood. 2009 May 21;113(21):5287-97. doi: 10.1182/blood-2008-09-179572. Epub 2009 Mar 31.
8	Hemoglobins with high oxygen affinity leading to erythrocytosis. New variants and new concepts.Hemoglobin. 2005;29(2):91-106.