ECYT1
MCID: ERY058
MIFTS: 55

Erythrocytosis, Familial, 1 (ECYT1)

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

Aliases & Classifications for Erythrocytosis, Familial, 1

MalaCards integrated aliases for Erythrocytosis, Familial, 1:

Name: Erythrocytosis, Familial, 1 57 73
Ecyt1 57 12 25 20 73
Primary Familial and Congenital Polycythemia 12 25 20 58
Pfcp 57 20 58 73
Familial Erythrocytosis 1 12 20 15
Familial Erythrocytosis 20 58 71
Congenital Erythrocytosis Due to Erythropoietin Receptor Mutation 20 58
Congenital Polycythemia Due to Erythropoietin Receptor Mutation 20 58
Polycythemia, Primary Familial and Congenital 57 20
Autosomal Dominant Benign Erythrocytosis 12 73
Primary Congenital Erythrocytosis 20 58
Familial Erythrocytosis Type 1 25 20
Primary Familial Polycythemia 20 58
Erythrocytosis, Somatic 57 13
Polycythemia, Primary Familial and Congenital; Pfcp 57
Autosomal Dominant Familial Erythrocytosis-1 20
Erythrocytosis, Autosomal Dominant Benign 57
Erythrocytosis Autosomal Dominant Benign 20
Erythrocytosis, Familial, Type 1 39
Familial Primary Polycythemia 73
Familial Erythrocytosis, 1 6

Characteristics:

Orphanet epidemiological data:

58
primary familial polycythemia
Inheritance: Autosomal dominant; Age of onset: All ages; Age of death: normal life expectancy;

OMIM®:

57 (Updated 05-Mar-2021)
Miscellaneous:
fatigue
variable phenotype, some patients have very mild symptoms
see also ecyt2 and ecyt3

Inheritance:
autosomal dominant


HPO:

31
erythrocytosis, familial, 1:
Inheritance autosomal dominant inheritance


GeneReviews:

25
Penetrance Data are insufficient to draw any conclusions about penetrance.

Classifications:

Orphanet: 58  
Rare haematological diseases


Summaries for Erythrocytosis, Familial, 1

GARD : 20 Primary familial and congenital polycythemia (PFCP) is an inherited blood disease that causes uncontrolled production of red blood cells (erythrocytes). This leads to an increased volume of red blood cells compared to the total blood volume (erythrocytosis). It may also lead to increased total blood volume or increased blood thickness (hyperviscosity), both of which can cause symptoms. The disease is present at birth, but symptoms (if they develop) may arise any time during childhood or adulthood. Possible symptoms may include headaches, dizziness, fatigue, nosebleeds, difficulty breathing after physical activity, muscle pain, a reddish complexion, and altered mental status. Some people develop blood clots that can block various blood vessels, preventing adequate blood flow (thromboembolic events). Most people have mild symptoms, but some people experience life-threatening complications such as heart attack or stroke. The risk of thrombosis and severe complications increases with age. PFCP is diagnosed by blood tests detecting isolated erythrocytosis and low EPO levels, in the absence of spleen abnormalities and other underlying diseases that can cause erythrocytosis (such as certain blood diseases and blood cancers). PFCP is inherited in an autosomal dominant manner, but some people with PFCP have no relatives with the disease. In about 12-15% of people with PFCP, it is caused by mutations in the EPOR gene. However in most people, the genetic cause is not yet known. Most people with PFCP do not need ongoing treatment. Some people with high blood volume need to have blood drawn periodically (phlebotomy) to treat symptoms or to maintain close-to-normal hematocrit levels. Some people with PFCP need medicines to lower blood pressure (antihypertensive therapy).

MalaCards based summary : Erythrocytosis, Familial, 1, also known as ecyt1, is related to erythrocytosis, familial, 3 and erythrocytosis, familial, 8, and has symptoms including fatigue, headache and dizziness. An important gene associated with Erythrocytosis, Familial, 1 is EPOR (Erythropoietin Receptor), and among its related pathways/superpathways are Signaling by GPCR and ERK Signaling. The drug Vaccines has been mentioned in the context of this disorder. Affiliated tissues include spleen, bone marrow and bone, and related phenotypes are fatigue and abnormal hemoglobin

Disease Ontology : 12 A primary polycythemia that has material basis in mutation in the gene encoding the erythropoietin receptor. It is characterized by increased serum red blood cell mass and hemoglobin concentration, hypersensitivity of erythroid progenitors to EPO, and low serum levels of EPO.

OMIM® : 57 Familial erythrocytosis-1 is an autosomal dominant disorder characterized by increased serum red blood cell mass and hemoglobin concentration, hypersensitivity of erythroid progenitors to EPO (133170), and low serum levels of EPO. There is no increase in platelets or leukocytes and the disorder does not progress to leukemia (Kralovics et al., 1998). (133100) (Updated 05-Mar-2021)

UniProtKB/Swiss-Prot : 73 Erythrocytosis, familial, 1: An autosomal dominant disorder characterized by elevated hemoglobin and hematocrit, hypersensitivity of erythroid progenitors to erythropoietin, erythropoietin low serum levels, and no increase in platelets nor leukocytes. It has a relatively benign course and does not progress to leukemia.

GeneReviews: NBK395975

Related Diseases for Erythrocytosis, Familial, 1

Diseases in the Erythrocytosis, Familial, 2 family:

Erythrocytosis, Familial, 1 Erythrocytosis, Familial, 8
Erythrocytosis, Familial, 3 Erythrocytosis, Familial, 4
Erythrocytosis, Familial, 5 Erythrocytosis, Familial, 6
Erythrocytosis, Familial, 7

Diseases related to Erythrocytosis, Familial, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 67)
# Related Disease Score Top Affiliating Genes
1 erythrocytosis, familial, 3 32.0 EGLN1 BPGM
2 erythrocytosis, familial, 8 31.7 JAK2 EPOR EGLN1 BPGM
3 primary polycythemia 31.5 STAT5A JAK2 IL3 EPOR EPO EGLN1
4 erythrocytosis, familial, 4 31.5 EPOR EGLN1 BPGM
5 erythrocytosis, familial, 2 31.1 JAK2 EPOR EPO EGLN1 BPGM
6 polycythemia vera 30.5 STAT5B STAT5A JAK2 IL3 EPOR EPO
7 autosomal dominant secondary polycythemia 30.0 EPO EGLN1
8 polycythemia 29.5 STAT5A SH2B3 JAK2 IL3 EPOR EPO
9 myeloproliferative neoplasm 28.7 STAT5B STAT5A SH2B3 JAK2 IL3 EPOR
10 myelodysplastic syndrome 28.3 STAT5B STAT5A SH2B3 JAK2 IL3 EPOR
11 erythrocytosis, familial, 6 11.4
12 erythrocytosis, familial, 7 11.3
13 erythropoietin polycythemia 11.2
14 erythrocytosis, familial, 5 10.9
15 lumbosacral lipoma 10.3 EPOR EPO
16 progressive myoclonus epilepsy 9 10.3 EPOR EPO
17 allergic disease 10.3
18 anemia of prematurity 10.3 EPOR EPO
19 myeloid and lymphoid neoplasms associated with pdgfra rearrangement 10.3 JAK2 EPO
20 refractory anemia 10.2 JAK2 EPO
21 neonatal anemia 10.2 EPOR EPO
22 combined oxidative phosphorylation deficiency 16 10.2 STAT5B JAK2
23 acute erythroid leukemia 10.2 JAK2 EPOR EPO
24 myelophthisic anemia 10.2 SH2B3 JAK2 EPO
25 plethora of newborn 10.2 EPO EGLN1
26 glioblastoma neural subtype 10.2 STAT5B STAT5A
27 jak3-deficient severe combined immunodeficiency 10.1 STAT5B STAT5A
28 leukemia 10.0
29 paresthesia 10.0
30 immunodeficiency 41 with lymphoproliferation and autoimmunity 10.0 STAT5B STAT5A
31 chronic leukemia 10.0 STAT5B STAT5A JAK2
32 systemic mastocytosis 10.0 STAT5B STAT5A JAK2
33 retinitis pigmentosa and erythrocytic microcytosis 10.0 JAK2 IL3 EPO
34 hypoxia 10.0
35 malaria 10.0
36 neutrophilia, hereditary 10.0 JAK2 IL3
37 acute megakaryocytic leukemia 9.9 JAK2 IL3 EPOR
38 crisponi/cold-induced sweating syndrome 2 9.9 STAT5B STAT5A
39 core binding factor acute myeloid leukemia 9.9 JAK2 CBL
40 disseminated eosinophilic collagen disease 9.9 IL5RA IL3
41 blood platelet disease 9.9 JAK2 IL3 EPO
42 blood coagulation disease 9.9 JAK2 IL3 EPO
43 thrombocytosis 9.8 SH2B3 JAK2 IL3 EPO
44 beta-thalassemia 9.8 JAK2 IL3 EPOR EPO
45 von hippel-lindau syndrome 9.8
46 myeloid and lymphoid neoplasms associated with fgfr1 abnormalities 9.8 STAT5B STAT5A IL3
47 acquired polycythemia 9.8 JAK2 EPOR EPO EGLN1 BPGM
48 diamond-blackfan anemia 9.8 JAK2 IL3 EPOR EPO
49 chronic eosinophilic leukemia 9.8 STAT5B STAT5A JAK2 IL5RA
50 severe congenital neutropenia 9.7 STAT5A JAK2 IL3

Graphical network of the top 20 diseases related to Erythrocytosis, Familial, 1:



Diseases related to Erythrocytosis, Familial, 1

Symptoms & Phenotypes for Erythrocytosis, Familial, 1

Human phenotypes related to Erythrocytosis, Familial, 1:

58 31 (show all 24)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 fatigue 58 31 hallmark (90%) Very frequent (99-80%) HP:0012378
2 abnormal hemoglobin 58 31 hallmark (90%) Very frequent (99-80%) HP:0011902
3 venous thrombosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0004936
4 vertigo 58 31 hallmark (90%) Very frequent (99-80%) HP:0002321
5 epistaxis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000421
6 headache 58 31 hallmark (90%) Very frequent (99-80%) HP:0002315
7 polycythemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001901
8 abdominal pain 58 31 frequent (33%) Frequent (79-30%) HP:0002027
9 arthralgia 58 31 frequent (33%) Frequent (79-30%) HP:0002829
10 pruritus 58 31 frequent (33%) Frequent (79-30%) HP:0000989
11 cough 58 31 occasional (7.5%) Occasional (29-5%) HP:0012735
12 exertional dyspnea 58 31 occasional (7.5%) Occasional (29-5%) HP:0002875
13 thromboembolism 58 31 occasional (7.5%) Occasional (29-5%) HP:0001907
14 hypertension 31 HP:0000822
15 splenomegaly 31 HP:0001744
16 myocardial infarction 31 HP:0001658
17 dyspnea 58 Very frequent (99-80%)
18 abnormal bleeding 58 Occasional (29-5%)
19 cerebral hemorrhage 31 HP:0001342
20 increased hematocrit 31 HP:0001899
21 plethora 31 HP:0001050
22 increased red blood cell mass 31 HP:0001898
23 increased hemoglobin 31 HP:0001900
24 peripheral thrombosis 31 HP:0002641

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Cardiovascular Vascular:
hypertension
peripheral thrombosis
coronary artery disease

Cardiovascular Heart:
myocardial infarction

Hematology:
increased hematocrit
increased red blood cell mass
increased hemoglobin
erythrocytosis
normal oxygen affinity of hemoglobin
more
Skin Nails Hair Skin:
plethora

Abdomen Spleen:
splenomegaly

Respiratory:
exertional dyspnea

Neurologic Central Nervous System:
dizziness
headaches
intracerebral hemorrhage

Laboratory Abnormalities:
low or normal serum erythropoietin

Clinical features from OMIM®:

133100 (Updated 05-Mar-2021)

UMLS symptoms related to Erythrocytosis, Familial, 1:


fatigue, headache, dizziness, dyspnea on exertion

MGI Mouse Phenotypes related to Erythrocytosis, Familial, 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.14 BTRC CBL EGLN1 EPN1 EPO EPOR
2 hematopoietic system MP:0005397 10.11 BTRC CBL EGLN1 EPO EPOR IL5RA
3 cardiovascular system MP:0005385 10.09 BTRC CBL EGLN1 EPN1 EPO EPOR
4 homeostasis/metabolism MP:0005376 10.06 BTRC CBL EGLN1 EPN1 EPO EPOR
5 immune system MP:0005387 10 BTRC CBL EGLN1 EPO EPOR IL5RA
6 liver/biliary system MP:0005370 9.81 CBL EGLN1 EPO EPOR HLF JAK2
7 mortality/aging MP:0010768 9.7 BTRC CBL EGLN1 EPN1 EPO EPOR
8 normal MP:0002873 9.23 EPN1 EPO EPOR HLF JAK2 PIK3R1

Drugs & Therapeutics for Erythrocytosis, Familial, 1

Drugs for Erythrocytosis, Familial, 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Vaccines Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Ph-1 Double-Blind Randomized Control Study-Evaluate Safety & Immunogenicity of Wanxing Bio-Pharmaceuticals AMA-1/MSP-1 Recombinant Malaria Vaccine (PfCP-2.9) Adj. w/ Montanide ISA 720 Compared to Montanide ISA 720 Alone in Adult Volunteers Completed NCT00284973 Phase 1

Search NIH Clinical Center for Erythrocytosis, Familial, 1

Genetic Tests for Erythrocytosis, Familial, 1

Anatomical Context for Erythrocytosis, Familial, 1

MalaCards organs/tissues related to Erythrocytosis, Familial, 1:

40
Spleen, Bone Marrow, Bone, Liver, Endothelial

Publications for Erythrocytosis, Familial, 1

Articles related to Erythrocytosis, Familial, 1:

(show top 50) (show all 87)
# Title Authors PMID Year
1
Absence of polycythemia in a child with a unique erythropoietin receptor mutation in a family with autosomal dominant primary polycythemia. 25 57 6 61
9649565 1998
2
Two new EPO receptor mutations: truncated EPO receptors are most frequently associated with primary familial and congenital polycythemias. 25 6 57 61
9292543 1997
3
Autosomal dominant polycythemia. 6 57 25
4052634 1985
4
Primary familial polycythemia: a frameshift mutation in the erythropoietin receptor gene and increased sensitivity of erythroid progenitors to erythropoietin. 61 6 25
7795221 1995
5
Familial erythrocytosis genetically linked to erythropoietin receptor gene. 57 6
8093406 1993
6
Autosomal dominant erythrocytosis caused by increased sensitivity to erythropoietin. 6 57
1954391 1991
7
Genetic basis of congenital erythrocytosis: mutation update and online databases. 57 25
24115288 2014
8
Erythrocytosis due to a mutation in the erythropoietin receptor gene. 6 25
9488636 1998
9
Familial erythrocytosis associated with a short deletion in the erythropoietin receptor gene. 25 6
9192789 1997
10
Childhood polycythemias/erythrocytoses: classification, diagnosis, clinical presentation, and treatment. 61 57
15599750 2005
11
Phenotype risk scores identify patients with unrecognized Mendelian disease patterns. 6
29590070 2018
12
The role of LNK/SH2B3 genetic alterations in myeloproliferative neoplasms and other hematological disorders. 6
28484264 2017
13
Gene panel sequencing improves the diagnostic work-up of patients with idiopathic erythrocytosis and identifies new mutations. 6
27651169 2016
14
Effect of mutation order on myeloproliferative neoplasms. 6
25671252 2015
15
Neuropathy of haematopoietic stem cell niche is essential for myeloproliferative neoplasms. 6
25043017 2014
16
LNK mutations in JAK2 mutation-negative erythrocytosis. 6
20843259 2010
17
Mesenchymal and haematopoietic stem cells form a unique bone marrow niche. 6
20703299 2010
18
Advances in understanding the pathogenesis of primary familial and congenital polycythaemia. 25 61
20096014 2010
19
The presence of JAK2V617F mutation in the liver endothelial cells of patients with Budd-Chiari syndrome. 6
19293426 2009
20
No evidence for increased prevalence of JAK2 V617F in women with a history of recurrent miscarriage. 6
19036091 2009
21
Haematopoietic stem cell release is regulated by circadian oscillations. 6
18256599 2008
22
JAK2 V617F mutation in unexplained loss of first pregnancy. 6
17989398 2007
23
Prevalence of the activating JAK2 tyrosine kinase mutation V617F in the Budd-Chiari syndrome. 6
16762626 2006
24
Case records of the Massachusetts General Hospital. Case 15-2006. A 46-year-old woman with sudden onset of abdominal distention. 6
16707754 2006
25
The JAK2 V617F mutation occurs in hematopoietic stem cells in polycythemia vera and predisposes toward erythroid differentiation. 6
16603627 2006
26
The JAK2 V617F mutation in de novo acute myelogenous leukemias. 6
16247455 2006
27
Definition of subtypes of essential thrombocythaemia and relation to polycythaemia vera based on JAK2 V617F mutation status: a prospective study. 6
16325696 2005
28
Lnk inhibits erythropoiesis and Epo-dependent JAK2 activation and downstream signaling pathways. 6
15705783 2005
29
Recent advances in the molecular biology of congenital polycythemias and polycythemia vera. 57
15865879 2005
30
A unique clonal JAK2 mutation leading to constitutive signalling causes polycythaemia vera. 6
15793561 2005
31
A gain-of-function mutation of JAK2 in myeloproliferative disorders. 6
15858187 2005
32
Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders. 6
15781101 2005
33
Polycythemia vera and other primary polycythemias. 57
15725900 2005
34
Possible primary familial and congenital polycythemia locus at 7q22.1-7q22.2. 61 25
14636647 2003
35
Genetic heterogeneity of primary familial and congenital polycythemia. 25 61
11559951 2001
36
Erythropoietin receptor mutations associated with familial erythrocytosis cause hypersensitivity to erythropoietin in the heterozygous state. 6
10498627 1999
37
"Benign erythrocytosis" and other familial and congenital polycythemias. 61 25
8982288 1996
38
Missense mutation of the erythropoietin receptor is a rare event in human erythroid malignancies. 6
8608241 1996
39
Familial and congenital polycythemia in three unrelated families. 57
1316790 1992
40
Autocrine stimulation by erythropoietin and autonomous growth of human erythroid leukemic cells in vitro. 6
1653276 1991
41
[Idiopathic familial erythrocytosis. Report on a family with autosomal dominant inheritance]. 57
3371213 1988
42
Autosomal Dominant familial erythrocytosis due to autonomous erythropoietin production. 57
7306703 1981
43
Erythropoietin-dependent primary pure erythrocytosis. 57
444659 1979
44
Familial polycythemia. 57
1105792 1975
45
Two cases of familial erythrocytosis with increased erythropoietin activity in plasma and urine. 57
4746102 1973
46
Familial polycythemia. 57
5311164 1970
47
Benign familial erythrocytosis. Report of three cases and a review of the literature. 57
5946371 1966
48
Benign familial polycythemia in childhood; report of two cases. 57
13494077 1958
49
LNK mutations and myeloproliferative disorders. 25
26660394 2016
50
A new point mutation in EPOR inducing a short deletion in congenital erythrocytosis. 25
26010769 2016

Variations for Erythrocytosis, Familial, 1

ClinVar genetic disease variations for Erythrocytosis, Familial, 1:

6 (show top 50) (show all 64)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 EPOR NM_000121.4(EPOR):c.1288dup (p.Asp430fs) Duplication Affects 16596 rs1555716045 19:11488898-11488899 19:11378222-11378223
2 EPOR NM_000121.4(EPOR):c.1281dup (p.Ile428fs) Duplication Affects 16597 rs1555716047 19:11488905-11488906 19:11378229-11378230
3 EPOR NM_000121.4(EPOR):c.1292_1298CCAGCTC[1] (p.Gln434fs) Microsatellite Affects 16599 rs1555716041 19:11488882-11488888 19:11378206-11378212
4 EPOR NM_000121.4(EPOR):c.1278C>G (p.Tyr426Ter) SNV Affects 16600 rs121917831 19:11488909-11488909 19:11378233-11378233
5 EPOR EPOR, 5968_5975DUP Duplication Affects 16601
6 JAK2 NM_004972.3(JAK2):c.1849G>T (p.Val617Phe) SNV Affects 14662 rs77375493 9:5073770-5073770 9:5073770-5073770
7 SH2B3 NM_005475.2(SH2B3):c.622G>T (p.Glu208Ter) SNV Affects 30446 rs202080221 12:111856571-111856571 12:111418767-111418767
8 EPOR NM_000121.4(EPOR):c.1317G>A (p.Trp439Ter) SNV Pathogenic, Affects 16595 rs121918116 19:11488870-11488870 19:11378194-11378194
9 EPOR NM_000121.4(EPOR):c.1316G>A (p.Trp439Ter) SNV Pathogenic 268131 rs121917830 19:11488871-11488871 19:11378195-11378195
10 SH2B3 NM_001291424.1(SH2B3):c.577G>A (p.Glu193Lys) SNV Pathogenic 619973 rs148636776 12:111885295-111885295 12:111447491-111447491
11 JAK2 NM_004972.3(JAK2):c.1849G>T (p.Val617Phe) SNV Pathogenic 14662 rs77375493 9:5073770-5073770 9:5073770-5073770
12 SH2B3 NM_001291424.1(SH2B3):c.592G>A (p.Glu198Lys) SNV Uncertain significance 501686 rs72650673 12:111885310-111885310 12:111447506-111447506
13 EPOR NM_000121.4(EPOR):c.1467T>C (p.Tyr489=) SNV Uncertain significance 889490 19:11488720-11488720 19:11378044-11378044
14 EPOR NM_000121.4(EPOR):c.-68G>A SNV Uncertain significance 328159 rs886054194 19:11494951-11494951 19:11384275-11384275
15 EPOR NM_000121.4(EPOR):c.980C>T (p.Pro327Leu) SNV Uncertain significance 328146 rs776698147 19:11489207-11489207 19:11378531-11378531
16 EPOR NM_000121.4(EPOR):c.596T>C (p.Leu199Pro) SNV Uncertain significance 328149 rs750657898 19:11491875-11491875 19:11381199-11381199
17 EPOR NM_000121.4(EPOR):c.*619C>T SNV Uncertain significance 328132 rs886054191 19:11488041-11488041 19:11377365-11377365
18 EPOR NM_000121.4(EPOR):c.-8G>T SNV Uncertain significance 328158 rs886054193 19:11494891-11494891 19:11384215-11384215
19 EPOR NM_000121.4(EPOR):c.864C>T (p.Ser288=) SNV Uncertain significance 328147 rs886054192 19:11489418-11489418 19:11378742-11378742
20 EPOR NM_000121.4(EPOR):c.558C>A (p.Ala186=) SNV Uncertain significance 891976 19:11492395-11492395 19:11381719-11381719
21 EPOR NM_000121.4(EPOR):c.388G>A (p.Ala130Thr) SNV Uncertain significance 891977 19:11492645-11492645 19:11381969-11381969
22 EPOR NM_000121.4(EPOR):c.335C>T (p.Ala112Val) SNV Uncertain significance 891978 19:11492698-11492698 19:11382022-11382022
23 EPOR NM_000121.4(EPOR):c.116-10C>T SNV Uncertain significance 889548 19:11493918-11493918 19:11383242-11383242
24 EPOR NM_000121.4(EPOR):c.13G>A (p.Gly5Arg) SNV Uncertain significance 889549 19:11494871-11494871 19:11384195-11384195
25 EPOR NM_000121.4(EPOR):c.-9G>A SNV Uncertain significance 889550 19:11494892-11494892 19:11384216-11384216
26 EPOR NM_000121.4(EPOR):c.1287G>A (p.Leu429=) SNV Uncertain significance 890160 19:11488900-11488900 19:11378224-11378224
27 EPOR NM_000121.4(EPOR):c.901A>G (p.Lys301Glu) SNV Uncertain significance 890161 19:11489381-11489381 19:11378705-11378705
28 EPOR NM_000121.4(EPOR):c.-25G>A SNV Uncertain significance 890207 19:11494908-11494908 19:11384232-11384232
29 EPOR NM_000121.4(EPOR):c.*776A>G SNV Uncertain significance 890683 19:11487884-11487884 19:11377208-11377208
30 EPOR NM_000121.4(EPOR):c.861G>A (p.Pro287=) SNV Uncertain significance 890737 19:11489421-11489421 19:11378745-11378745
31 EPOR NM_000121.4(EPOR):c.663C>T (p.Arg221=) SNV Uncertain significance 890738 19:11491808-11491808 19:11381132-11381132
32 EPOR NM_000121.4(EPOR):c.610G>C (p.Glu204Gln) SNV Uncertain significance 890739 19:11491861-11491861 19:11381185-11381185
33 EPOR NM_000121.4(EPOR):c.559G>T (p.Gly187Cys) SNV Uncertain significance 890740 19:11492394-11492394 19:11381718-11381718
34 EPOR NM_000121.4(EPOR):c.1428C>T (p.Ala476=) SNV Likely benign 328139 rs141096553 19:11488759-11488759 19:11378083-11378083
35 EPOR NM_000121.4(EPOR):c.24C>T (p.Leu8=) SNV Likely benign 328157 rs577368929 19:11494860-11494860 19:11384184-11384184
36 EPOR NM_000121.4(EPOR):c.1462C>T (p.Pro488Ser) SNV Likely benign 268130 rs142094773 19:11488725-11488725 19:11378049-11378049
37 EPOR NM_000121.4(EPOR):c.215T>C (p.Val72Ala) SNV Likely benign 328153 rs780617943 19:11493809-11493809 19:11383133-11383133
38 EPOR NM_000121.4(EPOR):c.1456T>C (p.Ser486Pro) SNV Likely benign 889491 19:11488731-11488731 19:11378055-11378055
39 EPOR NM_000121.4(EPOR):c.1022C>T (p.Thr341Met) SNV Likely benign 328145 rs754708788 19:11489165-11489165 19:11378489-11378489
40 EPOR NM_000121.4(EPOR):c.1444G>A (p.Asp482Asn) SNV Likely benign 328138 rs775164142 19:11488743-11488743 19:11378067-11378067
41 EPOR NM_000121.4(EPOR):c.*35G>A SNV Benign 328137 rs200997864 19:11488625-11488625 19:11377949-11377949
42 EPOR NM_000121.4(EPOR):c.168G>T (p.Arg56=) SNV Benign 328154 rs35977803 19:11493856-11493856 19:11383180-11383180
43 EPOR NM_000121.4(EPOR):c.*577A>G SNV Benign 328133 rs141524122 19:11488083-11488083 19:11377407-11377407
44 EPOR NM_000121.4(EPOR):c.115+7A>G SNV Benign 328156 rs192525298 19:11494762-11494762 19:11384086-11384086
45 EPOR NM_000121.4(EPOR):c.1427C>T (p.Ala476Val) SNV Benign 328140 rs146937816 19:11488760-11488760 19:11378084-11378084
46 EPOR NM_000121.4(EPOR):c.1139C>T (p.Pro380Leu) SNV Benign 328142 rs199645071 19:11489048-11489048 19:11378372-11378372
47 EPOR NM_000121.4(EPOR):c.558C>T (p.Ala186=) SNV Benign 328151 rs377322757 19:11492395-11492395 19:11381719-11381719
48 EPOR NM_000121.4(EPOR):c.657C>A (p.Ala219=) SNV Benign 328148 rs61729384 19:11491814-11491814 19:11381138-11381138
49 EPOR NM_000121.4(EPOR):c.*504G>A SNV Benign 328134 rs150535617 19:11488156-11488156 19:11377480-11377480
50 EPOR NM_000121.4(EPOR):c.*670G>A SNV Benign 328131 rs771124995 19:11487990-11487990 19:11377314-11377314

UniProtKB/Swiss-Prot genetic disease variations for Erythrocytosis, Familial, 1:

73
# Symbol AA change Variation ID SNP ID
1 EPOR p.Asn487Ser VAR_027372 rs62638745

Expression for Erythrocytosis, Familial, 1

Search GEO for disease gene expression data for Erythrocytosis, Familial, 1.

Pathways for Erythrocytosis, Familial, 1

Pathways related to Erythrocytosis, Familial, 1 according to GeneCards Suite gene sharing:

(show top 50) (show all 70)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
14.13 STAT5B STAT5A SH2B3 PIK3R1 JAK2 IL5RA
2
Show member pathways
13.78 STAT5B STAT5A PIK3R1 JAK2 IL5RA IL3
3
Show member pathways
13.64 STAT5B STAT5A PIK3R1 JAK2 IL5RA IL3
4
Show member pathways
13.51 STAT5B STAT5A PIK3R1 JAK2 IL3 EPOR
5
Show member pathways
13.38 STAT5B STAT5A PIK3R1 JAK2 IL5RA IL3
6
Show member pathways
13.29 STAT5B STAT5A PIK3R1 JAK2 IL5RA IL3
7
Show member pathways
12.95 PIK3R1 JAK2 IL3 EPOR EPO
8
Show member pathways
12.84 STAT5B STAT5A PIK3R1 IL3 CBL
9
Show member pathways
12.82 PIK3R1 JAK2 EPOR EPO CBL
10
Show member pathways
12.76 STAT5B STAT5A PIK3R1 JAK2 CBL
11
Show member pathways
12.72 STAT5B STAT5A PIK3R1 JAK2 EPOR EPO
12
Show member pathways
12.64 STAT5B STAT5A PIK3R1 CBL
13
Show member pathways
12.63 STAT5B STAT5A PIK3R1 JAK2
14
Show member pathways
12.58 STAT5B STAT5A PIK3R1 JAK2 EGLN1 CBL
15 12.58 STAT5B STAT5A PIK3R1 JAK2 IL5RA IL3
16
Show member pathways
12.56 SH2B3 PIK3R1 JAK2 CBL
17
Show member pathways
12.55 STAT5B STAT5A PIK3R1 JAK2
18 12.55 STAT5B STAT5A JAK2 IL3 CBL
19
Show member pathways
12.54 PIK3R1 JAK2 EPN1 CBL BTRC
20
Show member pathways
12.47 STAT5B STAT5A PIK3R1 JAK2 CBL
21
Show member pathways
12.38 STAT5A PIK3R1 IL3 EPOR CBL
22
Show member pathways
12.37 STAT5B STAT5A PIK3R1 JAK2 CBL
23
Show member pathways
12.29 PIK3R1 JAK2 CBL
24
Show member pathways
12.27 STAT5B STAT5A PIK3R1 JAK2 IL3 CBL
25
Show member pathways
12.26 STAT5B STAT5A PIK3R1 JAK2 IL5RA IL3
26
Show member pathways
12.15 STAT5B STAT5A JAK2
27
Show member pathways
12.14 PIK3R1 JAK2 IL5RA IL3
28 12.12 STAT5B STAT5A PIK3R1 JAK2 EPN1 CBL
29
Show member pathways
12.11 STAT5B STAT5A PIK3R1
30 12.11 STAT5B STAT5A PIK3R1 JAK2
31
Show member pathways
11.97 STAT5B STAT5A PIK3R1 JAK2 IL5RA CBL
32 11.96 SH2B3 IL3 EPO
33
Show member pathways
11.95 STAT5B STAT5A PIK3R1 JAK2
34 11.93 PIK3R1 EPO EGLN1
35 11.91 STAT5B STAT5A PIK3R1 JAK2
36 11.9 IL5RA IL3 EPOR EPO
37 11.87 STAT5B STAT5A JAK2
38
Show member pathways
11.85 STAT5B STAT5A JAK2
39
Show member pathways
11.84 STAT5B STAT5A PIK3R1
40
Show member pathways
11.84 PIK3R1 JAK2 CBL
41
Show member pathways
11.84 STAT5B STAT5A JAK2 IL3
42
Show member pathways
11.76 STAT5B STAT5A JAK2
43 11.75 STAT5B STAT5A PIK3R1 JAK2
44 11.72 STAT5B STAT5A PIK3R1 JAK2
45
Show member pathways
11.7 STAT5B STAT5A PIK3R1
46 11.69 STAT5B STAT5A JAK2
47
Show member pathways
11.6 PIK3R1 JAK2 CBL
48 11.6 STAT5A PIK3R1 CBL
49 11.6 STAT5B STAT5A PIK3R1 JAK2 CBL
50 11.57 STAT5B STAT5A PIK3R1 CBL

GO Terms for Erythrocytosis, Familial, 1

Cellular components related to Erythrocytosis, Familial, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 9.32 STAT5B STAT5A SH2B3 PIK3R1 JAK2 EPN1

Biological processes related to Erythrocytosis, Familial, 1 according to GeneCards Suite gene sharing:

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 9.85 STAT5B STAT5A SH2B3 PIK3R1 JAK2 IL5RA
2 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.63 JAK2 IL3 EPO
3 positive regulation of activated T cell proliferation GO:0042104 9.58 STAT5B EPO
4 regulation of multicellular organism growth GO:0040014 9.57 STAT5B STAT5A
5 erythrocyte development GO:0048821 9.56 SH2B3 BPGM
6 interleukin-6-mediated signaling pathway GO:0070102 9.55 JAK2 CBL
7 embryonic hemopoiesis GO:0035162 9.54 SH2B3 IL3
8 positive regulation of Ras protein signal transduction GO:0046579 9.54 JAK2 EPOR EPO
9 growth hormone receptor signaling pathway GO:0060396 9.52 PIK3R1 JAK2
10 interleukin-15-mediated signaling pathway GO:0035723 9.51 STAT5B STAT5A
11 JAK-STAT cascade GO:0007259 9.5 STAT5B STAT5A JAK2
12 interleukin-2-mediated signaling pathway GO:0038110 9.49 STAT5B STAT5A
13 interleukin-9-mediated signaling pathway GO:0038113 9.48 STAT5B STAT5A
14 taurine metabolic process GO:0019530 9.43 STAT5B STAT5A
15 JAK-STAT cascade involved in growth hormone signaling pathway GO:0060397 9.43 STAT5B STAT5A JAK2
16 erythropoietin-mediated signaling pathway GO:0038162 9.4 EPOR EPO
17 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.35 PIK3R1 JAK2 EPOR EPO CBL
18 cytokine-mediated signaling pathway GO:0019221 9.23 STAT5B STAT5A PIK3R1 JAK2 IL5RA IL3

Molecular functions related to Erythrocytosis, Familial, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 phosphatidylinositol 3-kinase binding GO:0043548 9.26 PIK3R1 JAK2
2 transmembrane receptor protein tyrosine kinase adaptor activity GO:0005068 9.16 SH2B3 PIK3R1
3 insulin receptor substrate binding GO:0043560 8.96 PIK3R1 JAK2
4 phosphatidylinositol 3-kinase regulatory subunit binding GO:0036312 8.62 PIK3R1 CBL

Sources for Erythrocytosis, Familial, 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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