Details of Disease

General Information of Disease (ID: DIS8B6VW)

• Disease Name: Polycythemia
• Synonyms: erythrocythemia; polycythemia (disease); polycythemia
• Definition: Abnormally high mass or concentration of red blood cells in the blood, either due to an increase in erythropoiesis or a decrease in plasma volume.
• Disease Hierarchy:
  DIS582WT: Bone marrow disorder
  DIS8B6VW: Polycythemia
• Disease Identifiers:
  MONDO ID: MONDO_0005571
  MESH ID: D011086
  UMLS CUI: C0032461
  MedGen ID: 18552
  HPO ID: HP:0001901
  Orphanet ID: 98427

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 8 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
HBB	TTM6HK1	moderate	Biomarker	[1]
SERPINE1	TTTO43N	moderate	Biomarker	[2]
EGLN1	TT9ISBX	Strong	Genetic Variation	[3]
EGLN2	TTMHFRY	Strong	Genetic Variation	[4]
EPOR	TTAUX24	Strong	Genetic Variation	[5]
GH1	TTT3YKH	Strong	Biomarker	[6]
HCK	TT42OGM	Strong	Biomarker	[7]
VHL	TTEMWSD	Strong	Genetic Variation	[8]

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC30A10	DTYBI73	moderate	Genetic Variation	[9]

This Disease Is Related to 20 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ASPRV1	OT8WVIBW	Limited	Altered Expression	[10]
HBA1	OTW2BQF4	moderate	Biomarker	[11]
ACO1	OT2VUR7L	Strong	Biomarker	[12]
ARHGEF7	OT9BPJCL	Strong	Genetic Variation	[13]
ASCC1	OTH4VAP9	Strong	Genetic Variation	[13]
CBFA2T2	OTNOIB23	Strong	Genetic Variation	[14]
CD177	OTS79FNF	Strong	Genetic Variation	[15]
CUL2	OTPF83PG	Strong	Biomarker	[16]
ELOB	OTZ3X84T	Strong	Biomarker	[16]
ELOC	OT0XHHWP	Strong	Biomarker	[16]
FH	OTEQWU6Q	Strong	Genetic Variation	[17]
HBG2	OT4J48JJ	Strong	Genetic Variation	[18]
KLK12	OTNYK59J	Strong	Biomarker	[19]
MT3	OTVCZ7HI	Strong	Biomarker	[20]
NFE2	OTLM94BI	Strong	Altered Expression	[21]
NPTN	OTAQKSAU	Strong	Biomarker	[22]
PPP1R12C	OT9Q86JO	Strong	Genetic Variation	[14]
PPP1R13B	OTC88VQO	Strong	Genetic Variation	[14]
RBX1	OTYA1UIO	Strong	Biomarker	[16]
TCHH	OT4J7EFT	Strong	Biomarker	[23]

References

• [1] Hemoglobin Palmerston North beta 23 (B5) Val replaced by Phe. A new variant identified in a patient with polycythemia.Hemoglobin. 1982;6(6):569-75. doi: 10.3109/03630268209046450.
• [2] Secretion of cardiac plasminogen activator during hypoxia-induced right ventricular hypertrophy.J Mol Cell Cardiol. 1997 Nov;29(11):3105-14. doi: 10.1006/jmcc.1997.0536.
• [3] Computational analysis of prolyl hydroxylase domain-containing protein 2 (PHD2) mutations promoting polycythemia insurgence in humans.Sci Rep. 2016 Jan 12;6:18716. doi: 10.1038/srep18716.
• [4] Germ-line PHD1 and PHD2 mutations detected in patients with pheochromocytoma/paraganglioma-polycythemia.J Mol Med (Berl). 2015 Jan;93(1):93-104. doi: 10.1007/s00109-014-1205-7. Epub 2014 Sep 30.
• [5] New pathogenic mechanisms induced by germline erythropoietin receptor mutations in primary erythrocytosis.Haematologica. 2018 Apr;103(4):575-586. doi: 10.3324/haematol.2017.176370. Epub 2017 Dec 21.
• [6] Hypersomatotropism induced secondary polycythaemia leading to spontaneous pituitary apoplexy resulting in cure of acromegaly and remission of polycythaemia: 'The virtuous circle'.BMJ Case Rep. 2017 Dec 7;2017:bcr2017222669. doi: 10.1136/bcr-2017-222669.
• [7] Hemopoietic Cell Kinase amplification with Protein Tyrosine Phosphatase Receptor T depletion leads to polycythemia, aberrant marrow erythoid maturation, and splenomegaly.Sci Rep. 2019 May 7;9(1):7050. doi: 10.1038/s41598-019-43373-6.
• [8] HIF2A germline-mutation-induced polycythemia in a patient with VHL-associated renal-cell carcinoma.Cancer Biol Ther. 2017 Dec 2;18(12):944-947. doi: 10.1080/15384047.2017.1394553. Epub 2017 Nov 27.
• [9] Manganese transporter Slc30a10 controls physiological manganese excretion and toxicity.J Clin Invest. 2019 Dec 2;129(12):5442-5461. doi: 10.1172/JCI129710.
• [10] Fetal stroke and cerebrovascular disease: Advances in understanding from lenticulostriate and venous imaging, alloimmune thrombocytopaenia and monochorionic twins.Eur J Paediatr Neurol. 2018 Nov;22(6):989-1005. doi: 10.1016/j.ejpn.2018.08.008. Epub 2018 Sep 11.
• [11] Hb Kanagawa [alpha 40(C5)Lys----Met]: a new alpha chain variant with an increased oxygen affinity.Hemoglobin. 1992;16(1-2):1-10. doi: 10.3109/03630269209005670.
• [12] Translational repression of HIF2 expression in mice with Chuvash polycythemia reverses polycythemia.J Clin Invest. 2018 Apr 2;128(4):1317-1325. doi: 10.1172/JCI97684. Epub 2018 Feb 26.
• [13] The complete evaluation of erythrocytosis: congenital and acquired.Leukemia. 2009 May;23(5):834-44. doi: 10.1038/leu.2009.54. Epub 2009 Mar 19.
• [14] 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.
• [15] Dynamic ligand modulation of EPO receptor pools, and dysregulation by polycythemia-associated EPOR alleles.PLoS One. 2012;7(1):e29064. doi: 10.1371/journal.pone.0029064. Epub 2012 Jan 12.
• [16] An integrated computational approach can classify VHL missense mutations according to risk of clear cell renal carcinoma.Hum Mol Genet. 2014 Nov 15;23(22):5976-88. doi: 10.1093/hmg/ddu321. Epub 2014 Jun 26.
• [17] Mild clinical presentation and prolonged survival of a patient with fumarase deficiency due to the combination of a known and a novel mutation in FH gene.Gene. 2013 Jul 25;524(2):403-6. doi: 10.1016/j.gene.2013.03.026. Epub 2013 Apr 20.
• [18] Hemoglobin Villejuif [beta 123(H1) Thr----Ile]: a new variant found in coincidence with polycythemia vera.Am J Hematol. 1989 Dec;32(4):294-7. doi: 10.1002/ajh.2830320410.
• [19] Transcriptome reveals the overexpression of a kallikrein gene cluster (KLK1/3/7/8/12) in the Tibetans with high altitude-associated polycythemia.Int J Mol Med. 2017 Feb;39(2):287-296. doi: 10.3892/ijmm.2016.2830. Epub 2016 Dec 14.
• [20] Transcriptome Reveals 1400-Fold Upregulation of APOA4-APOC3 and 1100-Fold Downregulation of GIF in the Patients with Polycythemia-Induced Gastric Injury.PLoS One. 2015 Oct 20;10(10):e0140534. doi: 10.1371/journal.pone.0140534. eCollection 2015.
• [21] RUNX1 and NF-E2 upregulation is not specific for MPNs, but is seen in polycythemic disorders with augmented HIF signaling.Blood. 2014 Jan 16;123(3):391-4. doi: 10.1182/blood-2013-10-534222. Epub 2013 Dec 2.
• [22] Fusion of the erythropoietin receptor and the Friend spleen focus-forming virus gp55 glycoprotein transforms a factor-dependent hematopoietic cell line.Mol Cell Biol. 1993 Feb;13(2):739-48. doi: 10.1128/mcb.13.2.739-748.1993.
• [23] Experimental Study on the Effect of Tibetan Medicine Triphala on the Proliferation and Apoptosis of Pancreatic Islet Cells through Incretin-cAMP Signaling Pathway.Biol Pharm Bull. 2020 Feb 1;43(2):289-295. doi: 10.1248/bpb.b19-00562. Epub 2019 Dec 6.