ECYT2
MCID: ERY048
MIFTS: 50

Erythrocytosis, Familial, 2 (ECYT2)

Categories: Blood diseases, Genetic diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Erythrocytosis, Familial, 2

MalaCards integrated aliases for Erythrocytosis, Familial, 2:

Name: Erythrocytosis, Familial, 2 58 76 30 13 6 74
Autosomal Recessive Benign Erythrocytosis 12 76
Familial Erythrocytosis 2 12 15
Chuvash Polycythemia 12 60
Ecyt2 58 76
Erythrocytosis, Autosomal Recessive Benign 58
Von Hippel-Lindau-Dependent Polycythemia 60
Erythrocytosis, Familial, Type 2 41
Polycythemia, Vhl-Dependent 58
Polycythemia, Chuvash Type 58
Vhl-Dependent Polycythemia 76
Chuvash Type Polycythemia 12
Polycythemia Chuvash Type 76
Chuvash Erythromatosis 12
Chuvash Erythrocytosis 60

Characteristics:

Orphanet epidemiological data:

60
chuvash erythrocytosis
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM:

58
Miscellaneous:
fatigue
mean age at diagnosis 16 years (range 6 to 22)
see also erythrocytosis 1 (ecyt1, )

Inheritance:
autosomal recessive


HPO:

33
erythrocytosis, familial, 2:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Erythrocytosis, Familial, 2

OMIM : 58 Familial erythrocytosis-2 is an autosomal recessive disorder characterized by increased red blood cell mass, increased serum levels of erythropoietin (EPO; 133170), and normal oxygen affinity. Patients with ECYT2 carry a high risk for peripheral thrombosis and cerebrovascular events (Cario, 2005). Familial erythrocytosis-2 has features of both primary and secondary erythrocytosis. In addition to increased circulating levels of EPO, consistent with a secondary, extrinsic process, erythroid progenitors are also hypersensitive to EPO, consistent with a primary, intrinsic process (Prchal, 2005). (263400)

MalaCards based summary : Erythrocytosis, Familial, 2, also known as autosomal recessive benign erythrocytosis, is related to hypoxia and polycythemia, and has symptoms including fatigue and headache. An important gene associated with Erythrocytosis, Familial, 2 is VHL (Von Hippel-Lindau Tumor Suppressor), and among its related pathways/superpathways are Cellular Senescence (REACTOME) and ErbB signaling pathway. Affiliated tissues include endothelial, kidney and testes, and related phenotypes are hypotension and fatigue

Disease Ontology : 12 A primary polycythemia that has material basis in homozygous or compound heterozygous mutation in the VHL gene (608537) on chromosome 3p25.

UniProtKB/Swiss-Prot : 76 Erythrocytosis, familial, 2: An autosomal recessive disorder characterized by an increase in serum red blood cell mass, hypersensitivity of erythroid progenitors to erythropoietin, increased erythropoietin serum levels, and normal oxygen affinity. Patients with ECYT2 carry a high risk for peripheral thrombosis and cerebrovascular events.

Related Diseases for Erythrocytosis, Familial, 2

Diseases in the Erythrocytosis, Familial, 1 family:

Erythrocytosis, Familial, 8 Erythrocytosis, Familial, 2
Erythrocytosis, Familial, 3 Erythrocytosis, Familial, 4
Erythrocytosis, Familial, 5 Erythrocytosis, Familial, 6
Erythrocytosis, Familial, 7

Diseases related to Erythrocytosis, Familial, 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 27)
# Related Disease Score Top Affiliating Genes
1 hypoxia 29.4 EGLN1 EPAS1 HIF1A VHL
2 polycythemia 29.3 EGLN1 EPAS1 EPO EPOR HIF1A VHL
3 thrombosis 10.3
4 iron metabolism disease 10.1
5 acquired polycythemia 10.1 EPO EPOR
6 neonatal anemia 10.0 EPO EPOR
7 erythroleukemia, familial 10.0 EPO EPOR
8 fumarate hydratase deficiency 10.0 HIF1A VHL
9 ewing's family of tumors 10.0 EPO EPOR
10 anemia of prematurity 10.0 EPO EPOR
11 erythrocytosis, familial, 1 10.0 EPO EPOR
12 exudative vitreoretinopathy 1 9.9 EPO HIF1A
13 von hippel-lindau syndrome 9.9 HIF1A VHL
14 sporadic pheochromocytoma 9.9 EPAS1 VHL
15 kidney cancer 9.9 HIF1A VHL
16 hemangioblastoma 9.8 EPO EPOR VHL
17 hemangioma 9.8 HIF1A VHL
18 acute mountain sickness 9.7 EGLN1 HIF1A VHL
19 polycythemia vera 9.7 EPO EPOR
20 deficiency anemia 9.7 EPO EPOR HIF1A
21 autosomal dominant secondary polycythemia 9.6 EGLN1 EPAS1 EPO
22 plethora of newborn 9.6 EGLN1 EPAS1 EPO
23 retinal hemangioblastoma 9.6 EPAS1 HIF1A VHL
24 primary polycythemia 9.6 EGLN1 EPO EPOR VHL
25 clear cell renal cell carcinoma 9.5 EPAS1 HIF1A VHL
26 pheochromocytoma 9.5 EPAS1 HIF1A VHL
27 renal cell carcinoma, nonpapillary 9.5 EPAS1 HIF1A VHL

Graphical network of the top 20 diseases related to Erythrocytosis, Familial, 2:



Diseases related to Erythrocytosis, Familial, 2

Symptoms & Phenotypes for Erythrocytosis, Familial, 2

Human phenotypes related to Erythrocytosis, Familial, 2:

33 (show all 12)
# Description HPO Frequency HPO Source Accession
1 hypotension 33 HP:0002615
2 fatigue 33 HP:0012378
3 headache 33 HP:0002315
4 varicose veins 33 HP:0002619
5 stroke 33 HP:0001297
6 cerebral hemorrhage 33 HP:0001342
7 hemangioma 33 HP:0001028
8 increased hematocrit 33 HP:0001899
9 peripheral thrombosis 33 HP:0002641
10 plethora 33 HP:0001050
11 increased red blood cell mass 33 HP:0001898
12 increased hemoglobin 33 HP:0001900

Symptoms via clinical synopsis from OMIM:

58
Cardiovascular Vascular:
hypotension
varicose veins
peripheral thrombosis
vascular abnormalities
vertebral hemangiomas
more
Hematology:
increased hematocrit
erythrocytosis
increased red blood cell mass
increased hemoglobin

Laboratory Abnormalities:
increased serum erythropoietin (epo, )
increased serum vascular endothelial growth factor (vegf, )
increased serum plasminogen activator inhibitor-1 (pai1, )
normal leukocyte and platelet counts

Neurologic Central Nervous System:
headache
cerebral hemorrhage
cerebral vascular events

Skin Nails Hair Skin:
plethora

Clinical features from OMIM:

263400

UMLS symptoms related to Erythrocytosis, Familial, 2:


fatigue, headache

MGI Mouse Phenotypes related to Erythrocytosis, Familial, 2:

47 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.97 EGLN1 EPAS1 EPO EPOR HIF1A VHL
2 embryo MP:0005380 9.93 EGLN1 EPAS1 EPO EPOR HIF1A VHL
3 hematopoietic system MP:0005397 9.91 EGLN1 EPAS1 EPO EPOR HIF1A VHL
4 cellular MP:0005384 9.88 EGLN1 EPO EPOR HIF1A VHL
5 homeostasis/metabolism MP:0005376 9.88 EGLN1 EPAS1 EPO EPOR HIF1A VHL
6 immune system MP:0005387 9.85 EGLN1 EPAS1 EPO EPOR HIF1A VHL
7 liver/biliary system MP:0005370 9.8 EGLN1 EPAS1 EPO EPOR HIF1A VHL
8 mortality/aging MP:0010768 9.73 EGLN1 EPAS1 EPO EPOR HIF1A VHL
9 muscle MP:0005369 9.55 EGLN1 EPAS1 EPO HIF1A VHL
10 respiratory system MP:0005388 9.35 EGLN1 EPAS1 EPO EPOR HIF1A
11 skeleton MP:0005390 9.02 EGLN1 EPAS1 EPO HIF1A VHL

Drugs & Therapeutics for Erythrocytosis, Familial, 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Ruxolitinib for Chuvash Polycythemia No longer available NCT01730755 Ruxolitinib

Search NIH Clinical Center for Erythrocytosis, Familial, 2

Genetic Tests for Erythrocytosis, Familial, 2

Genetic tests related to Erythrocytosis, Familial, 2:

# Genetic test Affiliating Genes
1 Erythrocytosis, Familial, 2 30 VHL

Anatomical Context for Erythrocytosis, Familial, 2

MalaCards organs/tissues related to Erythrocytosis, Familial, 2:

42
Endothelial, Kidney, Testes

Publications for Erythrocytosis, Familial, 2

Articles related to Erythrocytosis, Familial, 2:

(show all 42)
# Title Authors Year
1
Translational repression of HIF2α expression in mice with Chuvash polycythemia reverses polycythemia. ( 29480820 )
2018
2
Prospective study of thrombosis and thrombospondin-1 expression in Chuvash polycythemia. ( 28104701 )
2017
3
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. ( 27854360 )
2017
4
Clinical Improvement with JAK2 Inhibition in Chuvash Polycythemia. ( 27518686 )
2016
5
Complications in children and adolescents with Chuvash polycythemia. ( 25573974 )
2015
6
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. ( 25356965 )
2015
7
A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment. ( 25394175 )
2015
8
Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline. ( 24893135 )
2014
9
American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology providers. ( 24493721 )
2014
10
Decreased serum glucose and glycosylated hemoglobin levels in patients with Chuvash polycythemia: a role for HIF in glucose metabolism. ( 23015148 )
2013
11
The phenotype of polycythemia due to Croatian homozygous VHL (571C>G:H191D) mutation is different from that of Chuvash polycythemia (VHL 598C>T:R200W). ( 23403324 )
2013
12
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. ( 23788249 )
2013
13
Canadian guideline on genetic screening for hereditary renal cell cancers. ( 24319509 )
2013
14
Pulmonary artery pressure and iron deficiency in patients with upregulation of hypoxia sensing due to homozygous VHL(R200W) mutation (Chuvash polycythemia). ( 21993671 )
2012
15
Clinical utility gene card for: familial erythrocytosis. ( 22274579 )
2012
16
Chuvash polycythemia VHLR200W mutation is associated with down-regulation of hepcidin expression. ( 21876117 )
2011
17
Chuvash polycythemia: diagnosis and management. ( 22252661 )
2011
18
The heterozygote advantage of the Chuvash polycythemia VHLR200W mutation may be protection against anemia. ( 21606165 )
2011
19
Loss of JAK2 regulation via a heterodimeric VHL-SOCS1 E3 ubiquitin ligase underlies Chuvash polycythemia. ( 21685897 )
2011
20
Increased size of solid organs in patients with Chuvash polycythemia and in mice with altered expression of HIF-1alpha and HIF-2alpha. ( 20140661 )
2010
21
Altered cytokine profiles in patients with Chuvash polycythemia. ( 19062180 )
2009
22
Zebrafish mutants in the von Hippel-Lindau tumor suppressor display a hypoxic response and recapitulate key aspects of Chuvash polycythemia. ( 19304954 )
2009
23
Elevated homocysteine, glutathione and cysteinylglycine concentrations in patients homozygous for the Chuvash polycythemia VHL mutation. ( 18223282 )
2008
24
von Hippel-Lindau mutation in mice recapitulates Chuvash polycythemia via hypoxia-inducible factor-2alpha signaling and splenic erythropoiesis. ( 17992257 )
2007
25
Von Hippel-Lindau-dependent polycythemia is endemic on the island of Ischia: identification of a novel cluster. ( 16210343 )
2006
26
Vascular complications in Chuvash polycythemia. ( 16673284 )
2006
27
Endothelin-1, vascular endothelial growth factor and systolic pulmonary artery pressure in patients with Chuvash polycythemia. ( 16769575 )
2006
28
Mutations in the von Hippel-Lindau (VHL) tumor suppressor gene and VHL-haplotype analysis in patients with presumable congenital erythrocytosis. ( 15642664 )
2005
29
Congenital disorder of oxygen sensing: association of the homozygous Chuvash polycythemia VHL mutation with thrombosis and vascular abnormalities but not tumors. ( 14726398 )
2004
30
The worldwide distribution of the VHL 598C>T mutation indicates a single founding event. ( 14604959 )
2004
31
Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. ( 15604628 )
2004
32
Chuvash-type congenital polycythemia in 4 families of Asian and Western European ancestry. ( 12702509 )
2003
33
Mutations of von Hippel-Lindau tumor-suppressor gene and congenital polycythemia. ( 12844285 )
2003
34
Mutations in the VHL gene in sporadic apparently congenital polycythemia. ( 12393546 )
2003
35
Germ-line mutations in nonsyndromic pheochromocytoma. ( 12000816 )
2002
36
Endemic polycythemia in Russia: mutation in the VHL gene. ( 11987242 )
2002
37
Disruption of oxygen homeostasis underlies congenital Chuvash polycythemia. ( 12415268 )
2002
38
VHL2C phenotype in a German von Hippel-Lindau family with concurrent VHL germline mutations P81S and L188V. ( 12414898 )
2002
39
Localization of the gene responsible for familial benign polycythemia to chromosome 11q23. ( 10364675 )
1999
40
Software and database for the analysis of mutations in the VHL gene. ( 9399847 )
1998
41
Germline mutations in the Von Hippel-Lindau disease (VHL) gene in families from North America, Europe, and Japan. ( 8956040 )
1996
42
Consequences of direct genetic testing for germline mutations in the clinical management of families with multiple endocrine neoplasia, type II. ( 7563486 )
1995

Variations for Erythrocytosis, Familial, 2

UniProtKB/Swiss-Prot genetic disease variations for Erythrocytosis, Familial, 2:

76
# Symbol AA change Variation ID SNP ID
1 VHL p.Val130Leu VAR_005733 rs104893830
2 VHL p.Leu188Val VAR_005777 rs5030824
3 VHL p.Leu198Arg VAR_005778
4 VHL p.Arg200Trp VAR_005779 rs28940298
5 VHL p.Asp126Tyr VAR_034994 rs104893831
6 VHL p.His191Asp VAR_034999 rs28940301
7 VHL p.Pro192Ser VAR_035000 rs28940300

ClinVar genetic disease variations for Erythrocytosis, Familial, 2:

6 (show top 50) (show all 555)
# Gene Variation Type Significance SNP ID Assembly Location
1 VHL NM_000551.3(VHL): c.548C> A (p.Ser183Ter) single nucleotide variant Pathogenic rs5030823 GRCh37 Chromosome 3, 10191555: 10191555
2 VHL NM_000551.3(VHL): c.548C> A (p.Ser183Ter) single nucleotide variant Pathogenic rs5030823 GRCh38 Chromosome 3, 10149871: 10149871
3 VHL NM_000551.3(VHL): c.500G> A (p.Arg167Gln) single nucleotide variant Pathogenic rs5030821 GRCh37 Chromosome 3, 10191507: 10191507
4 VHL NM_000551.3(VHL): c.500G> A (p.Arg167Gln) single nucleotide variant Pathogenic rs5030821 GRCh38 Chromosome 3, 10149823: 10149823
5 VHL NM_000551.3(VHL): c.499C> T (p.Arg167Trp) single nucleotide variant Pathogenic rs5030820 GRCh37 Chromosome 3, 10191506: 10191506
6 VHL NM_000551.3(VHL): c.499C> T (p.Arg167Trp) single nucleotide variant Pathogenic rs5030820 GRCh38 Chromosome 3, 10149822: 10149822
7 VHL NM_000551.3(VHL): c.499C> G (p.Arg167Gly) single nucleotide variant Pathogenic/Likely pathogenic rs5030820 GRCh37 Chromosome 3, 10191506: 10191506
8 VHL NM_000551.3(VHL): c.499C> G (p.Arg167Gly) single nucleotide variant Pathogenic/Likely pathogenic rs5030820 GRCh38 Chromosome 3, 10149822: 10149822
9 VHL NM_000551.3(VHL): c.334T> C (p.Tyr112His) single nucleotide variant Pathogenic rs104893824 GRCh37 Chromosome 3, 10183865: 10183865
10 VHL NM_000551.3(VHL): c.334T> C (p.Tyr112His) single nucleotide variant Pathogenic rs104893824 GRCh38 Chromosome 3, 10142181: 10142181
11 VHL NM_000551.3(VHL): c.292T> C (p.Tyr98His) single nucleotide variant Pathogenic rs5030809 GRCh37 Chromosome 3, 10183823: 10183823
12 VHL NM_000551.3(VHL): c.292T> C (p.Tyr98His) single nucleotide variant Pathogenic rs5030809 GRCh38 Chromosome 3, 10142139: 10142139
13 VHL NM_000551.3(VHL): c.562C> G (p.Leu188Val) single nucleotide variant Conflicting interpretations of pathogenicity rs5030824 GRCh37 Chromosome 3, 10191569: 10191569
14 VHL NM_000551.3(VHL): c.562C> G (p.Leu188Val) single nucleotide variant Conflicting interpretations of pathogenicity rs5030824 GRCh38 Chromosome 3, 10149885: 10149885
15 VHL NM_000551.3(VHL): c.191G> C (p.Arg64Pro) single nucleotide variant Pathogenic/Likely pathogenic rs104893826 GRCh37 Chromosome 3, 10183722: 10183722
16 VHL NM_000551.3(VHL): c.191G> C (p.Arg64Pro) single nucleotide variant Pathogenic/Likely pathogenic rs104893826 GRCh38 Chromosome 3, 10142038: 10142038
17 VHL NM_000551.3(VHL): c.188T> C (p.Leu63Pro) single nucleotide variant Uncertain significance rs104893827 GRCh37 Chromosome 3, 10183719: 10183719
18 VHL NM_000551.3(VHL): c.188T> C (p.Leu63Pro) single nucleotide variant Uncertain significance rs104893827 GRCh38 Chromosome 3, 10142035: 10142035
19 VHL NM_000551.3(VHL): c.388G> C (p.Val130Leu) single nucleotide variant Pathogenic rs104893830 GRCh37 Chromosome 3, 10188245: 10188245
20 VHL NM_000551.3(VHL): c.388G> C (p.Val130Leu) single nucleotide variant Pathogenic rs104893830 GRCh38 Chromosome 3, 10146561: 10146561
21 VHL NM_000551.3(VHL): c.376G> T (p.Asp126Tyr) single nucleotide variant Pathogenic rs104893831 GRCh37 Chromosome 3, 10188233: 10188233
22 VHL NM_000551.3(VHL): c.376G> T (p.Asp126Tyr) single nucleotide variant Pathogenic rs104893831 GRCh38 Chromosome 3, 10146549: 10146549
23 VHL NM_000551.3(VHL): c.598C> T (p.Arg200Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs28940298 GRCh37 Chromosome 3, 10191605: 10191605
24 VHL NM_000551.3(VHL): c.598C> T (p.Arg200Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs28940298 GRCh38 Chromosome 3, 10149921: 10149921
25 VHL NM_000551.3(VHL): c.241C> T (p.Pro81Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs104893829 GRCh37 Chromosome 3, 10183772: 10183772
26 VHL NM_000551.3(VHL): c.241C> T (p.Pro81Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs104893829 GRCh38 Chromosome 3, 10142088: 10142088
27 VHL NM_000551.3(VHL): c.574C> T (p.Pro192Ser) single nucleotide variant Uncertain significance rs28940300 GRCh37 Chromosome 3, 10191581: 10191581
28 VHL NM_000551.3(VHL): c.574C> T (p.Pro192Ser) single nucleotide variant Uncertain significance rs28940300 GRCh38 Chromosome 3, 10149897: 10149897
29 VHL NM_000551.3(VHL): c.571C> G (p.His191Asp) single nucleotide variant Pathogenic rs28940301 GRCh37 Chromosome 3, 10191578: 10191578
30 VHL NM_000551.3(VHL): c.571C> G (p.His191Asp) single nucleotide variant Pathogenic rs28940301 GRCh38 Chromosome 3, 10149894: 10149894
31 VHL NM_000551.3(VHL): c.277G> A (p.Gly93Ser) single nucleotide variant Pathogenic rs5030808 GRCh37 Chromosome 3, 10183808: 10183808
32 VHL NM_000551.3(VHL): c.277G> A (p.Gly93Ser) single nucleotide variant Pathogenic rs5030808 GRCh38 Chromosome 3, 10142124: 10142124
33 VHL NM_000551.3(VHL): c.340+5G> C single nucleotide variant Benign/Likely benign rs61758376 GRCh37 Chromosome 3, 10183876: 10183876
34 VHL NM_000551.3(VHL): c.340+5G> C single nucleotide variant Benign/Likely benign rs61758376 GRCh38 Chromosome 3, 10142192: 10142192
35 VHL NM_000551.3(VHL): c.524A> G (p.Tyr175Cys) single nucleotide variant Likely pathogenic rs193922613 GRCh37 Chromosome 3, 10191531: 10191531
36 VHL NM_000551.3(VHL): c.524A> G (p.Tyr175Cys) single nucleotide variant Likely pathogenic rs193922613 GRCh38 Chromosome 3, 10149847: 10149847
37 VHL NM_000551.3(VHL): c.549G> A (p.Ser183=) single nucleotide variant Likely benign rs193922614 GRCh37 Chromosome 3, 10191556: 10191556
38 VHL NM_000551.3(VHL): c.549G> A (p.Ser183=) single nucleotide variant Likely benign rs193922614 GRCh38 Chromosome 3, 10149872: 10149872
39 VHL NM_198156.2(VHL): c.269A> G (p.Asn90Ser) single nucleotide variant Uncertain significance rs143985153 GRCh37 Chromosome 3, 10183800: 10183800
40 VHL NM_198156.2(VHL): c.269A> G (p.Asn90Ser) single nucleotide variant Uncertain significance rs143985153 GRCh38 Chromosome 3, 10142116: 10142116
41 VHL NM_000551.3(VHL): c.150C> G (p.Ala50=) single nucleotide variant Benign/Likely benign rs61751580 GRCh37 Chromosome 3, 10183681: 10183681
42 VHL NM_000551.3(VHL): c.150C> G (p.Ala50=) single nucleotide variant Benign/Likely benign rs61751580 GRCh38 Chromosome 3, 10141997: 10141997
43 VHL NM_000551.3(VHL): c.319C> G (p.Arg107Gly) single nucleotide variant Pathogenic/Likely pathogenic rs397516440 GRCh37 Chromosome 3, 10183850: 10183850
44 VHL NM_000551.3(VHL): c.319C> G (p.Arg107Gly) single nucleotide variant Pathogenic/Likely pathogenic rs397516440 GRCh38 Chromosome 3, 10142166: 10142166
45 VHL NM_000551.3(VHL): c.467A> G (p.Tyr156Cys) single nucleotide variant Pathogenic/Likely pathogenic rs397516441 GRCh37 Chromosome 3, 10191474: 10191474
46 VHL NM_000551.3(VHL): c.467A> G (p.Tyr156Cys) single nucleotide variant Pathogenic/Likely pathogenic rs397516441 GRCh38 Chromosome 3, 10149790: 10149790
47 VHL NM_000551.3(VHL): c.74C> T (p.Pro25Leu) single nucleotide variant Benign/Likely benign rs35460768 GRCh37 Chromosome 3, 10183605: 10183605
48 VHL NM_000551.3(VHL): c.74C> T (p.Pro25Leu) single nucleotide variant Benign/Likely benign rs35460768 GRCh38 Chromosome 3, 10141921: 10141921
49 VHL NM_000551.3(VHL): c.629G> A (p.Arg210Gln) single nucleotide variant Uncertain significance rs138780791 GRCh37 Chromosome 3, 10191636: 10191636
50 VHL NM_000551.3(VHL): c.629G> A (p.Arg210Gln) single nucleotide variant Uncertain significance rs138780791 GRCh38 Chromosome 3, 10149952: 10149952

Expression for Erythrocytosis, Familial, 2

Search GEO for disease gene expression data for Erythrocytosis, Familial, 2.

Pathways for Erythrocytosis, Familial, 2

Pathways related to Erythrocytosis, Familial, 2 according to GeneCards Suite gene sharing:

(show all 18)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.75 EGLN1 EPAS1 EPO HIF1A VHL
2
Show member pathways
12.22 EGLN1 EPAS1 HIF1A VHL
3 12.16 EGLN1 EPAS1 EPO EPOR HIF1A VHL
4 11.97 EGLN1 EPAS1 HIF1A
5
Show member pathways
11.6 EPAS1 HIF1A VHL
6
Show member pathways
11.56 EPO EPOR
7 11.56 EGLN1 EPO HIF1A VHL
8 11.55 EPO EPOR
9 11.51 EGLN1 HIF1A
10 11.42 EGLN1 EPO HIF1A
11
Show member pathways
11.19 EPO EPOR
12 11.19 EGLN1 EPO HIF1A VHL
13
Show member pathways
11.09 EPAS1 HIF1A
14 11.07 EGLN1 EPO HIF1A
15 10.96 EPO EPOR
16 10.73 EPAS1 VHL
17 10.65 HIF1A VHL
18 10.46 EGLN1 EPAS1 EPO VHL

GO Terms for Erythrocytosis, Familial, 2

Biological processes related to Erythrocytosis, Familial, 2 according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 9.69 EPO HIF1A VHL
2 negative regulation of apoptotic process GO:0043066 9.67 EPO HIF1A VHL
3 post-translational protein modification GO:0043687 9.61 EPAS1 HIF1A VHL
4 cellular response to hypoxia GO:0071456 9.52 EPAS1 HIF1A
5 cellular iron ion homeostasis GO:0006879 9.48 EGLN1 HIF1A
6 erythrocyte differentiation GO:0030218 9.46 EPAS1 EPO
7 embryonic placenta development GO:0001892 9.4 EPAS1 HIF1A
8 oxygen homeostasis GO:0032364 9.37 EGLN1 HIF1A
9 regulation of transcription from RNA polymerase II promoter in response to oxidative stress GO:0043619 9.32 EPAS1 HIF1A
10 hemoglobin biosynthetic process GO:0042541 9.26 EPO HIF1A
11 response to hypoxia GO:0001666 9.26 EGLN1 EPAS1 EPO HIF1A
12 erythropoietin-mediated signaling pathway GO:0038162 9.16 EPO EPOR
13 regulation of transcription from RNA polymerase II promoter in response to hypoxia GO:0061418 9.02 EGLN1 EPAS1 EPO HIF1A VHL

Molecular functions related to Erythrocytosis, Familial, 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 enzyme binding GO:0019899 9.33 EGLN1 HIF1A VHL
2 transcription factor binding GO:0008134 9.13 EPAS1 HIF1A VHL
3 histone acetyltransferase binding GO:0035035 8.62 EPAS1 HIF1A

Sources for Erythrocytosis, Familial, 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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