ECYT1
MCID: ERY058
MIFTS: 59

Erythrocytosis, Familial, 1 (ECYT1)

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

Aliases & Classifications for Erythrocytosis, Familial, 1

MalaCards integrated aliases for Erythrocytosis, Familial, 1:

Name: Erythrocytosis, Familial, 1 56 73
Familial Erythrocytosis 52 25 58 29 6 71 32
Ecyt1 56 12 24 52 73
Primary Familial and Congenital Polycythemia 12 24 52 58
Pfcp 56 52 58 73
Primary Familial Polycythemia 52 25 58
Familial Erythrocytosis 1 12 52 15
Congenital Erythrocytosis Due to Erythropoietin Receptor Mutation 52 58
Congenital Polycythemia Due to Erythropoietin Receptor Mutation 52 58
Polycythemia, Primary Familial and Congenital 56 52
Autosomal Dominant Benign Erythrocytosis 12 73
Primary Congenital Erythrocytosis 52 58
Familial Erythrocytosis Type 1 24 52
Erythrocytosis, Somatic 56 13
Polycythemia, Primary Familial and Congenital; Pfcp 56
Autosomal Dominant Familial Erythrocytosis-1 52
Erythrocytosis, Autosomal Dominant Benign 56
Erythrocytosis Autosomal Dominant Benign 52
Erythrocytosis, Familial, Type 1 39
Familial Primary Polycythemia 73
Benign Familial Polycythemia 25
Congenital Erythrocytosis 25
Hereditary Erythrocytosis 25
Erythrocytosis, Familial 54
Familial Polycythemia 25

Characteristics:

Orphanet epidemiological data:

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

OMIM:

56
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:

24
Penetrance Data are insufficient to draw any conclusions about penetrance.

Classifications:

Orphanet: 58  
Rare haematological diseases


Summaries for Erythrocytosis, Familial, 1

NIH Rare Diseases : 52 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 familial erythrocytosis, is related to erythrocytosis, familial, 3 and erythrocytosis, familial, 4, 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 ERK Signaling and PEDF Induced Signaling. The drugs Digoxin and Vaccines have been mentioned in the context of this disorder. Affiliated tissues include heart, spleen and brain, 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.

Genetics Home Reference : 25 Familial erythrocytosis is an inherited condition characterized by an increased number of red blood cells (erythrocytes). The primary function of these cells is to carry oxygen from the lungs to tissues and organs throughout the body. Signs and symptoms of familial erythrocytosis can include headaches, dizziness, nosebleeds, and shortness of breath. The excess red blood cells also increase the risk of developing abnormal blood clots that can block the flow of blood through arteries and veins. If these clots restrict blood flow to essential organs and tissues (particularly the heart, lungs, or brain), they can cause life-threatening complications such as a heart attack or stroke. However, many people with familial erythrocytosis experience only mild signs and symptoms or never have any problems related to their extra red blood cells.

OMIM : 56 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)

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.

Wikipedia : 74 Polycythemia (also known as polycythaemia or polyglobulia) is a disease state in which the hematocrit... more...

GeneReviews: NBK395975

Related Diseases for Erythrocytosis, Familial, 1

Diseases in the Erythrocytosis, Familial, 1 family:

Erythrocytosis, Familial, 8 Erythrocytosis, Familial, 2, Autosomal Recessive
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 71)
# Related Disease Score Top Affiliating Genes
1 erythrocytosis, familial, 3 32.8 EPOR EGLN1 BPGM
2 erythrocytosis, familial, 4 32.5 VHL EPOR EGLN1 BPGM
3 erythrocytosis, familial, 8 32.1 JAK2 EPOR EGLN1 BPGM
4 erythrocytosis, familial, 2, autosomal recessive 31.9 VHL EPOR EPO EGLN1
5 polycythemia vera 30.8 STAT5B STAT5A JAK2 IL3 EPOR EPO
6 autosomal dominant secondary polycythemia 30.5 EPO EGLN1
7 neutrophilia, hereditary 29.5 JAK2 IL3
8 thrombocytosis 29.2 SH2B3 JAK2 IL3 EPO
9 primary polycythemia 28.6 VHL JAK2 IL3 EPOR EPO EGLN1
10 myelodysplastic syndrome 28.5 STAT5B STAT5A SH2B3 JAK2 IL3 EPOR
11 myeloproliferative neoplasm 28.4 STAT5B STAT5A SH2B3 JAK2 IL3 EPOR
12 polycythemia 28.4 VHL STAT5A SH2B3 JAK2 IL3 EPOR
13 leukemia, chronic myeloid 27.7 STAT5B STAT5A JAK2 IL3 EPOR EPO
14 erythrocytosis, familial, 6 11.7
15 erythrocytosis, familial, 7 11.2
16 erythrocytosis, familial, 5 11.2
17 progressive myoclonus epilepsy 9 10.4 EPOR EPO
18 plethora of newborn 10.4 EPO EGLN1
19 anemia of prematurity 10.4 EPOR EPO
20 myeloid and lymphoid neoplasms associated with pdgfra rearrangement 10.3 JAK2 EPO
21 pheochromocytoma-paraganglioma 10.3 VHL EGLN1
22 erythroleukemia, familial 10.3 EPOR EPO
23 myelophthisic anemia 10.2 SH2B3 JAK2 EPO
24 glioblastoma neural subtype 10.2 STAT5B STAT5A
25 jak3-deficient severe combined immunodeficiency 10.2 STAT5B STAT5A
26 combined oxidative phosphorylation deficiency 16 10.2 STAT5B JAK2
27 hemangioblastoma 10.2 VHL EPOR EPO
28 neonatal anemia 10.2 EPOR EPO
29 esophagus leiomyoma 10.2 VHL EGLN1
30 acute mountain sickness 10.1 VHL EGLN1
31 chronic leukemia 10.1 STAT5B STAT5A JAK2
32 systemic mastocytosis 10.1 STAT5B STAT5A JAK2
33 allergic hypersensitivity disease 10.1
34 paraganglioma 10.0
35 refractory anemia 10.0 IL3 EPO
36 retinitis pigmentosa and erythrocytic microcytosis 10.0 JAK2 IL3 EPO
37 anemia, x-linked, with or without neutropenia and/or platelet abnormalities 10.0 IL3 EPOR EPO
38 hypoxia 9.9
39 pheochromocytoma 9.9 VHL EPOR EPO EGLN1
40 blood coagulation disease 9.9 JAK2 IL3 EPO
41 leukemia 9.9
42 erythropoietin polycythemia 9.9
43 paresthesia 9.9
44 blood platelet disease 9.9 JAK2 IL3 EPO
45 megakaryocytic leukemia 9.9 JAK2 IL3 EPOR
46 severe congenital neutropenia 9.8 STAT5A JAK2 IL3
47 pulmonary hypertension 9.8
48 chorioamnionitis 9.8
49 hemoglobinopathy 9.8
50 myeloid and lymphoid neoplasms associated with fgfr1 abnormalities 9.8 STAT5B STAT5A 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 pruritus 58 31 frequent (33%) Frequent (79-30%) HP:0000989
9 arthralgia 58 31 frequent (33%) Frequent (79-30%) HP:0002829
10 abdominal pain 58 31 frequent (33%) Frequent (79-30%) HP:0002027
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 splenomegaly 31 HP:0001744
15 dyspnea 58 Very frequent (99-80%)
16 myocardial infarction 31 HP:0001658
17 hypertension 31 HP:0000822
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:

56
Abdomen Spleen:
splenomegaly

Cardiovascular Vascular:
hypertension
peripheral thrombosis
coronary artery disease

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

Cardiovascular Heart:
myocardial infarction

Respiratory:
exertional dyspnea

Neurologic Central Nervous System:
dizziness
headaches
intracerebral hemorrhage

Laboratory Abnormalities:
low or normal serum erythropoietin

Clinical features from OMIM:

133100

UMLS symptoms related to Erythrocytosis, Familial, 1:


fatigue, headache, dizziness, dyspnea on exertion

MGI Mouse Phenotypes related to Erythrocytosis, Familial, 1:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.17 BTRC EGLN1 EPN1 EPO EPOR JAK2
2 hematopoietic system MP:0005397 10.14 BTRC EGLN1 EPO EPOR IL5RA JAK2
3 cardiovascular system MP:0005385 10.11 BTRC EGLN1 EPN1 EPO EPOR HLF
4 homeostasis/metabolism MP:0005376 10.11 BTRC EGLN1 EPN1 EPO EPOR HLF
5 immune system MP:0005387 10.06 BTRC EGLN1 EPO EPOR IL5RA JAK2
6 mortality/aging MP:0010768 9.93 BTRC DPM1 EGLN1 EPN1 EPO EPOR
7 liver/biliary system MP:0005370 9.91 EGLN1 EPO EPOR HLF JAK2 PIK3R1
8 neoplasm MP:0002006 9.43 BTRC EPN1 IL5RA JAK2 PIK3R1 VHL
9 normal MP:0002873 9.28 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
Digoxin Approved Phase 1 20830-75-5 30322 2724385
2 Vaccines Phase 1
3 Cardiotonic Agents Phase 1
4 Anti-Arrhythmia Agents Phase 1
5 Protective Agents 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
2 Phase 1 Study of Digoxin for Congenital Erythrocytosis Due to Up-Regulated Hypoxia Sensing Not yet recruiting NCT03433833 Phase 1 Digoxin
3 Molecular Biology of Polycythemia and Thrombocytosis Recruiting NCT00722527
4 Genomic Screening for Hereditary Erythrocytosis and Related Diseases Recruiting NCT03263364
5 Ruxolitinib for Chuvash Polycythemia No longer available NCT01730755 Ruxolitinib

Search NIH Clinical Center for Erythrocytosis, Familial, 1

Genetic Tests for Erythrocytosis, Familial, 1

Genetic tests related to Erythrocytosis, Familial, 1:

# Genetic test Affiliating Genes
1 Familial Erythrocytosis 29

Anatomical Context for Erythrocytosis, Familial, 1

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

40
Heart, Spleen, Brain, Lung, Testes, Bone Marrow, Bone

Publications for Erythrocytosis, Familial, 1

Articles related to Erythrocytosis, Familial, 1:

(show top 50) (show all 143)
# 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. 61 24 56 54 6
9649565 1998
2
Two new EPO receptor mutations: truncated EPO receptors are most frequently associated with primary familial and congenital polycythemias. 54 61 6 56 24
9292543 1997
3
Autosomal dominant polycythemia. 24 56 6
4052634 1985
4
Erythrocytosis due to a mutation in the erythropoietin receptor gene. 61 24 54 6
9488636 1998
5
Familial erythrocytosis genetically linked to erythropoietin receptor gene. 56 61 6
8093406 1993
6
Genetic basis of congenital erythrocytosis: mutation update and online databases. 56 24 61
24115288 2014
7
Familial erythrocytosis associated with a short deletion in the erythropoietin receptor gene. 6 24 61
9192789 1997
8
Primary familial polycythemia: a frameshift mutation in the erythropoietin receptor gene and increased sensitivity of erythroid progenitors to erythropoietin. 24 6 54
7795221 1995
9
Autosomal dominant erythrocytosis caused by increased sensitivity to erythropoietin. 6 56
1954391 1991
10
Erythropoietin receptor mutations associated with familial erythrocytosis cause hypersensitivity to erythropoietin in the heterozygous state. 61 54 6
10498627 1999
11
Clinical utility gene card for: familial erythrocytosis. 61 6
22274579 2012
12
[Idiopathic familial erythrocytosis. Report on a family with autosomal dominant inheritance]. 56 61
3371213 1988
13
Autosomal Dominant familial erythrocytosis due to autonomous erythropoietin production. 56 61
7306703 1981
14
Two cases of familial erythrocytosis with increased erythropoietin activity in plasma and urine. 56 61
4746102 1973
15
Benign familial erythrocytosis. Report of three cases and a review of the literature. 56 61
5946371 1966
16
Primary Familial and Congenital Polycythemia 6
27831681 2016
17
Effect of mutation order on myeloproliferative neoplasms. 6
25671252 2015
18
Neuropathy of haematopoietic stem cell niche is essential for myeloproliferative neoplasms. 6
25043017 2014
19
LNK mutations in JAK2 mutation-negative erythrocytosis. 6
20843259 2010
20
Mesenchymal and haematopoietic stem cells form a unique bone marrow niche. 6
20703299 2010
21
The presence of JAK2V617F mutation in the liver endothelial cells of patients with Budd-Chiari syndrome. 6
19293426 2009
22
No evidence for increased prevalence of JAK2 V617F in women with a history of recurrent miscarriage. 6
19036091 2009
23
Haematopoietic stem cell release is regulated by circadian oscillations. 6
18256599 2008
24
JAK2 V617F mutation in unexplained loss of first pregnancy. 6
17989398 2007
25
beta-Trcp mediates ubiquitination and degradation of the erythropoietin receptor and controls cell proliferation. 24 54
17327410 2007
26
Prevalence of the activating JAK2 tyrosine kinase mutation V617F in the Budd-Chiari syndrome. 6
16762626 2006
27
Case records of the Massachusetts General Hospital. Case 15-2006. A 46-year-old woman with sudden onset of abdominal distention. 6
16707754 2006
28
The JAK2 V617F mutation occurs in hematopoietic stem cells in polycythemia vera and predisposes toward erythroid differentiation. 6
16603627 2006
29
The JAK2 V617F mutation in de novo acute myelogenous leukemias. 6
16247455 2006
30
Definition of subtypes of essential thrombocythaemia and relation to polycythaemia vera based on JAK2 V617F mutation status: a prospective study. 6
16325696 2005
31
Recent advances in the molecular biology of congenital polycythemias and polycythemia vera. 56
15865879 2005
32
A gain-of-function mutation of JAK2 in myeloproliferative disorders. 6
15858187 2005
33
A unique clonal JAK2 mutation leading to constitutive signalling causes polycythaemia vera. 6
15793561 2005
34
Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders. 6
15781101 2005
35
Polycythemia vera and other primary polycythemias. 56
15725900 2005
36
Childhood polycythemias/erythrocytoses: classification, diagnosis, clinical presentation, and treatment. 56
15599750 2005
37
"Benign erythrocytosis" and other familial and congenital polycythemias. 24 61
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. 56
1316790 1992
40
Autocrine stimulation by erythropoietin and autonomous growth of human erythroid leukemic cells in vitro. 6
1653276 1991
41
Erythropoietin-dependent primary pure erythrocytosis. 56
444659 1979
42
Familial polycythemia. 56
1105792 1975
43
Familial polycythemia. 56
5311164 1970
44
Benign familial polycythemia in childhood; report of two cases. 56
13494077 1958
45
A new point mutation in EPOR inducing a short deletion in congenital erythrocytosis. 24
26010769 2016
46
LNK mutations and myeloproliferative disorders. 24
26660394 2016
47
Outcomes of pregnancy in patients with congenital erythrocytosis. 24
25732921 2015
48
Polycythaemia-inducing mutations in the erythropoietin receptor (EPOR): mechanism and function as elucidated by epidermal growth factor receptor-EPOR chimeras. 24
24533580 2014
49
Erythrocytosis in children and adolescents-classification, characterization, and consensus recommendations for the diagnostic approach. 24
23776154 2013
50
Molecular study of congenital erythrocytosis in 70 unrelated patients revealed a potential causal mutation in less than half of the cases (Where is/are the missing gene(s)?). 24
23859443 2013

Variations for Erythrocytosis, Familial, 1

ClinVar genetic disease variations for Erythrocytosis, Familial, 1:

6 (show top 50) (show all 103) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# 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)short repeat 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_5975DUPduplication Affects 16601
6 SH2B3 NM_005475.2(SH2B3):c.622G>T (p.Glu208Ter)SNV Affects 30446 rs202080221 12:111856571-111856571 12:111418767-111418767
7 JAK2 NM_004972.3(JAK2):c.1849G>T (p.Val617Phe)SNV Pathogenic 14662 rs77375493 9:5073770-5073770 9:5073770-5073770
8 EPOR NM_000121.4(EPOR):c.1317G>A (p.Trp439Ter)SNV Pathogenic 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 EPOR NM_000121.4(EPOR):c.*776A>GSNV Uncertain significance 890683 19:11487884-11487884 19:11377208-11377208
12 EPOR NM_000121.4(EPOR):c.1467T>C (p.Tyr489=)SNV Uncertain significance 889490 19:11488720-11488720 19:11378044-11378044
13 SH2B3 NM_001291424.1(SH2B3):c.592G>A (p.Glu198Lys)SNV Uncertain significance 501686 rs72650673 12:111885310-111885310 12:111447506-111447506
14 EPOR NM_000121.4(EPOR):c.116-10C>TSNV Uncertain significance 889548 19:11493918-11493918 19:11383242-11383242
15 EPOR NM_000121.4(EPOR):c.1287G>A (p.Leu429=)SNV Uncertain significance 890160 19:11488900-11488900 19:11378224-11378224
16 EPOR NM_000121.4(EPOR):c.901A>G (p.Lys301Glu)SNV Uncertain significance 890161 19:11489381-11489381 19:11378705-11378705
17 EPOR NM_000121.4(EPOR):c.861G>A (p.Pro287=)SNV Uncertain significance 890737 19:11489421-11489421 19:11378745-11378745
18 EPOR NM_000121.4(EPOR):c.663C>T (p.Arg221=)SNV Uncertain significance 890738 19:11491808-11491808 19:11381132-11381132
19 EPOR NM_000121.4(EPOR):c.610G>C (p.Glu204Gln)SNV Uncertain significance 890739 19:11491861-11491861 19:11381185-11381185
20 EPOR NM_000121.4(EPOR):c.559G>T (p.Gly187Cys)SNV Uncertain significance 890740 19:11492394-11492394 19:11381718-11381718
21 EPOR NM_000121.4(EPOR):c.558C>A (p.Ala186=)SNV Uncertain significance 891976 19:11492395-11492395 19:11381719-11381719
22 EPOR NM_000121.4(EPOR):c.388G>A (p.Ala130Thr)SNV Uncertain significance 891977 19:11492645-11492645 19:11381969-11381969
23 EPOR NM_000121.4(EPOR):c.335C>T (p.Ala112Val)SNV Uncertain significance 891978 19:11492698-11492698 19:11382022-11382022
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>ASNV Uncertain significance 889550 19:11494892-11494892 19:11384216-11384216
26 EPOR NM_000121.4(EPOR):c.-25G>ASNV Uncertain significance 890207 19:11494908-11494908 19:11384232-11384232
27 EGLN1 NM_022051.2(EGLN1):c.*1965A>GSNV Uncertain significance 296150 rs185322052 1:231500192-231500192 1:231364446-231364446
28 EGLN1 NM_022051.2(EGLN1):c.*1802_*1803dupduplication Uncertain significance 296154 rs541569859 1:231500353-231500354 1:231364607-231364608
29 EGLN1 NM_022051.2(EGLN1):c.*555_*559deldeletion Uncertain significance 296176 rs886046105 1:231501598-231501602 1:231365852-231365856
30 EGLN1 NM_022051.2(EGLN1):c.-1661_-1660deldeletion Uncertain significance 296226 rs886046126 1:231559294-231559295 1:231423548-231423549
31 EGLN1 NM_022051.2(EGLN1):c.*1428_*1429deldeletion Uncertain significance 296159 rs886046098 1:231500728-231500729 1:231364982-231364983
32 EGLN1 NM_022051.2(EGLN1):c.*261_*263deldeletion Uncertain significance 296181 rs886046108 1:231501894-231501896 1:231366148-231366150
33 EGLN1 NM_022051.2(EGLN1):c.1217-23dupduplication Uncertain significance 296184 rs371155853 1:231502230-231502231 1:231366484-231366485
34 EGLN1 NM_022051.2(EGLN1):c.*1415_*1419delATTTTshort repeat Uncertain significance 296160 rs886046099 1:231500738-231500742 1:231364992-231364996
35 EPAS1 NM_001430.5(EPAS1):c.*540deldeletion Uncertain significance 336292 rs75932330 2:46612327-46612327 2:46385188-46385188
36 EPAS1 NM_001430.5(EPAS1):c.218-11_218-10insGinsertion Uncertain significance 336240 rs142684263 2:46583279-46583280 2:46356140-46356141
37 EPAS1 NM_001430.5(EPAS1):c.*680dupduplication Uncertain significance 336296 rs886056094 2:46612473-46612474 2:46385334-46385335
38 EPAS1 NM_001430.5(EPAS1):c.*715_*716AG[1]short repeat Uncertain significance 336298 rs886056096 2:46612514-46612515 2:46385375-46385376
39 EPAS1 NM_001430.5(EPAS1):c.*733C>GSNV Uncertain significance 336299 rs886056097 2:46612532-46612532 2:46385393-46385393
40 EPAS1 NM_001430.5(EPAS1):c.1035-6deldeletion Uncertain significance 336257 rs757409274 2:46603666-46603666 2:46376527-46376527
41 EPAS1 NM_001430.5(EPAS1):c.218-10_218-9insTCinsertion Uncertain significance 336239 rs1553394835 2:46583279-46583280 2:46356140-46356141
42 EPAS1 NM_001430.5(EPAS1):c.-472G>ASNV Uncertain significance 336218 rs886056075 2:46524579-46524579 2:46297440-46297440
43 EPOR NM_000121.4(EPOR):c.*619C>TSNV Uncertain significance 328132 rs886054191 19:11488041-11488041 19:11377365-11377365
44 EPOR NM_000121.4(EPOR):c.*186_*187dupduplication Uncertain significance 328136 rs528356712 19:11488472-11488473 19:11377796-11377797
45 EPOR NM_000121.4(EPOR):c.864C>T (p.Ser288=)SNV Uncertain significance 328147 rs886054192 19:11489418-11489418 19:11378742-11378742
46 EPOR NM_000121.4(EPOR):c.596T>C (p.Leu199Pro)SNV Uncertain significance 328149 rs750657898 19:11491875-11491875 19:11381199-11381199
47 EPOR NM_000121.4(EPOR):c.-8G>TSNV Uncertain significance 328158 rs886054193 19:11494891-11494891 19:11384215-11384215
48 EPOR NM_000121.4(EPOR):c.980C>T (p.Pro327Leu)SNV Uncertain significance 328146 rs776698147 19:11489207-11489207 19:11378531-11378531
49 EPOR NM_000121.4(EPOR):c.-68G>ASNV Uncertain significance 328159 rs886054194 19:11494951-11494951 19:11384275-11384275
50 EPOR NM_000121.4(EPOR):c.215T>C (p.Val72Ala)SNV Likely benign 328153 rs780617943 19:11493809-11493809 19:11383133-11383133

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 56)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.76 VHL STAT5B STAT5A PIK3R1 JAK2 IL5RA
2
Show member pathways
13.62 STAT5B STAT5A PIK3R1 JAK2 IL5RA IL3
3
Show member pathways
13.49 STAT5B STAT5A PIK3R1 JAK2 IL3 EPOR
4
Show member pathways
13.36 STAT5B STAT5A PIK3R1 JAK2 IL5RA IL3
5
Show member pathways
13.31 STAT5B STAT5A PIK3R1 JAK2 IL5RA IL3
6
Show member pathways
12.94 PIK3R1 JAK2 IL3 EPOR EPO
7
Show member pathways
12.78 PIK3R1 JAK2 EPOR EPO
8
Show member pathways
12.74 STAT5B STAT5A PIK3R1 JAK2 EPOR EPO
9
Show member pathways
12.61 STAT5B STAT5A PIK3R1 JAK2
10
Show member pathways
12.54 STAT5B STAT5A PIK3R1 JAK2
11
Show member pathways
12.53 VHL STAT5B STAT5A PIK3R1 JAK2 EGLN1
12 12.52 STAT5B STAT5A JAK2 IL3
13
Show member pathways
12.51 PIK3R1 JAK2 EPN1 BTRC
14
Show member pathways
12.44 STAT5B STAT5A PIK3R1 JAK2
15 12.38 VHL STAT5B STAT5A PIK3R1 JAK2 IL5RA
16
Show member pathways
12.36 STAT5B STAT5A PIK3R1 JAK2
17
Show member pathways
12.28 STAT5B STAT5A PIK3R1 JAK2 IL3
18
Show member pathways
12.26 STAT5B STAT5A PIK3R1 JAK2 IL5RA IL3
19
Show member pathways
12.11 PIK3R1 JAK2 IL5RA IL3
20
Show member pathways
12.09 STAT5B STAT5A PIK3R1
21 12.09 STAT5B STAT5A PIK3R1 JAK2 EPN1
22 12.08 STAT5B STAT5A PIK3R1 JAK2
23
Show member pathways
12.05 STAT5B STAT5A PIK3R1 JAK2
24
Show member pathways
11.96 STAT5B STAT5A PIK3R1 JAK2 IL5RA
25 11.95 SH2B3 IL3 EPO
26 11.94 VHL PIK3R1 EPO EGLN1
27
Show member pathways
11.93 STAT5B STAT5A PIK3R1 JAK2
28
Show member pathways
11.9 STAT5B STAT5A JAK2
29 11.88 STAT5B STAT5A PIK3R1 JAK2
30 11.87 IL5RA IL3 EPOR EPO
31 11.86 STAT5B STAT5A JAK2
32
Show member pathways
11.82 STAT5B STAT5A JAK2
33
Show member pathways
11.81 STAT5B STAT5A PIK3R1
34 11.72 STAT5B STAT5A PIK3R1 JAK2
35
Show member pathways
11.69 STAT5B STAT5A JAK2 IL3
36
Show member pathways
11.69 STAT5B STAT5A SH2B3 PIK3R1 JAK2 EPOR
37
Show member pathways
11.67 STAT5B STAT5A PIK3R1
38 11.66 STAT5B STAT5A JAK2
39 11.61 STAT5B STAT5A PIK3R1 JAK2
40 11.56 STAT5B STAT5A PIK3R1
41 11.56 VHL EPO EGLN1
42 11.5 STAT5A IL3 EPO
43 11.49 STAT5B STAT5A JAK2
44
Show member pathways
11.48 STAT5B STAT5A SH2B3 PIK3R1 JAK2 IL5RA
45
Show member pathways
11.46 STAT5B STAT5A PIK3R1
46 11.46 STAT5B STAT5A PIK3R1 JAK2
47
Show member pathways
11.43 STAT5B STAT5A PIK3R1
48
Show member pathways
11.35 PIK3R1 JAK2 EPOR EPO
49 11.32 VHL EPO EGLN1
50
Show member pathways
11.25 STAT5B STAT5A JAK2

GO Terms for Erythrocytosis, Familial, 1

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 9.91 STAT5B STAT5A SH2B3 PIK3R1 JAK2 IL5RA
2 regulation of transcription from RNA polymerase II promoter in response to hypoxia GO:0061418 9.65 VHL EPO EGLN1
3 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.63 JAK2 IL3 EPO
4 positive regulation of activated T cell proliferation GO:0042104 9.58 STAT5B EPO
5 erythrocyte development GO:0048821 9.57 SH2B3 BPGM
6 negative regulation of JAK-STAT cascade GO:0046426 9.56 VHL SH2B3
7 embryonic hemopoiesis GO:0035162 9.55 SH2B3 IL3
8 interleukin-15-mediated signaling pathway GO:0035723 9.54 STAT5B STAT5A
9 positive regulation of Ras protein signal transduction GO:0046579 9.54 JAK2 EPOR EPO
10 growth hormone receptor signaling pathway GO:0060396 9.52 PIK3R1 JAK2
11 interleukin-2-mediated signaling pathway GO:0038110 9.51 STAT5B STAT5A
12 JAK-STAT cascade GO:0007259 9.5 STAT5B STAT5A JAK2
13 interleukin-9-mediated signaling pathway GO:0038113 9.49 STAT5B STAT5A
14 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.46 PIK3R1 JAK2 EPOR EPO
15 taurine metabolic process GO:0019530 9.43 STAT5B STAT5A
16 erythropoietin-mediated signaling pathway GO:0038162 9.4 EPOR EPO
17 cytokine-mediated signaling pathway GO:0019221 9.17 STAT5B STAT5A PIK3R1 JAK2 IL5RA IL3
18 JAK-STAT cascade involved in growth hormone signaling pathway GO:0060397 9.13 STAT5B STAT5A JAK2

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 protein binding, bridging involved in substrate recognition for ubiquitination GO:1990756 9.16 VHL BTRC
3 transmembrane receptor protein tyrosine kinase adaptor activity GO:0005068 8.96 SH2B3 PIK3R1
4 insulin receptor substrate binding GO:0043560 8.62 PIK3R1 JAK2

Sources for Erythrocytosis, Familial, 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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