ECYT1
MCID: ERY058
MIFTS: 56

Erythrocytosis, Familial, 1 (ECYT1)

Categories: Blood diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Erythrocytosis, Familial, 1

MalaCards integrated aliases for Erythrocytosis, Familial, 1:

Name: Erythrocytosis, Familial, 1 57 75
Primary Familial and Congenital Polycythemia 12 24 53 59
Ecyt1 57 24 53 75
Pfcp 57 53 59 75
Familial Erythrocytosis 1 12 53 15
Familial Erythrocytosis 53 59 73
Congenital Erythrocytosis Due to Erythropoietin Receptor Mutation 53 59
Congenital Polycythemia Due to Erythropoietin Receptor Mutation 53 59
Polycythemia, Primary Familial and Congenital 57 53
Autosomal Dominant Benign Erythrocytosis 12 75
Primary Congenital Erythrocytosis 53 59
Familial Erythrocytosis Type 1 24 53
Primary Familial Polycythemia 53 59
Familial Erythrocytosis, 1 29 6
Erythrocytosis, Somatic 57 13
Polycythemia, Primary Familial and Congenital; Pfcp 57
Autosomal Dominant Familial Erythrocytosis-1 53
Erythrocytosis, Autosomal Dominant Benign 57
Erythrocytosis Autosomal Dominant Benign 53
Erythrocytosis, Familial, Type 1 40
Familial Primary Polycythemia 75

Characteristics:

Orphanet epidemiological data:

59
primary familial polycythemia
Inheritance: Autosomal dominant; Age of onset: All ages; Age of death: normal life expectancy;

OMIM:

57
Miscellaneous:
fatigue
variable phenotype, some patients have very mild symptoms
see also ecyt2 and ecyt3

Inheritance:
autosomal dominant


HPO:

32
erythrocytosis, familial, 1:
Inheritance autosomal dominant inheritance


GeneReviews:

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

Classifications:



Summaries for Erythrocytosis, Familial, 1

NIH Rare Diseases : 53 Primary familial and congenital polycythemia (PFCP) is an inheritedblood 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 primary familial and congenital polycythemia, is related to erythrocytosis, familial, 2 and primary polycythemia, 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 GPCR Pathway. The drugs Digoxin and Protective Agents have been mentioned in the context of this disorder. Affiliated tissues include heart, lung and brain, and related phenotypes are fatigue and arthralgia

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 : 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)

UniProtKB/Swiss-Prot : 75 Erythrocytosis, familial, 1: An autosomal dominant disorder characterized by increased serum red blood cell mass, 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 : 76 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, 2 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 all 42)
# Related Disease Score Top Affiliating Genes
1 erythrocytosis, familial, 2 32.1 EPOR EPO
2 primary polycythemia 31.7 JAK2 IL3 EPOR EPO DPM1
3 polycythemia vera 31.0 THPO STAT5A JAK2 IL3 EPOR EPO
4 polycythemia 29.7 THPO STAT5A JAK2 IL3 EPOR EPO
5 erythropoietin polycythemia 11.5
6 erythrocytosis, familial, 5 11.1
7 erythrocytosis, familial, 3 11.1
8 erythrocytosis, familial, 4 11.1
9 myeloid and lymphoid neoplasms with eosinophilia and abnormalities of pdgfra, pdgfrb, and fgfr1 10.2 JAK2 DPM1
10 neonatal anemia 10.1 EPOR EPO
11 acquired polycythemia 10.1 JAK2 EPOR EPO
12 thrombocythemia 1 10.1 THPO SH2B3
13 folic acid deficiency anemia 10.1 THPO EPO
14 myeloproliferative neoplasm 10.1 STAT5B SH2B3 JAK2
15 b cell linker protein deficiency 10.1 STAT5B STAT5A
16 cellular congenital mesoblastic nephroma 10.1 STAT5B STAT5A
17 erythroleukemia, familial 10.0 EPOR EPO
18 jak3-deficient severe combined immunodeficiency 10.0 STAT5B STAT5A
19 retinitis pigmentosa and erythrocytic microcytosis 10.0 JAK2 IL3 EPO
20 refractory anemia 10.0 JAK2 IL3 EPO
21 splenic disease 10.0 THPO EPO
22 chronic leukemia 10.0 STAT5A JAK2 STAT5B
23 isolated growth hormone deficiency, type ii 10.0 STAT5B STAT5A JAK2
24 hypersplenism 10.0 THPO PIK3R1 EPO
25 ewing's family of tumors 10.0 EPOR EPO
26 amegakaryocytic thrombocytopenia, congenital 10.0 THPO IL3
27 megakaryocytic leukemia 9.9 THPO JAK2 IL3
28 pancytopenia 9.9 THPO IL3 EPO
29 human t-cell leukemia virus type 2 9.9 STAT5A STAT1
30 thrombocytosis 9.9 THPO JAK2 IL3 EPO
31 deficiency anemia 9.9 THPO IL3 EPOR EPO
32 diamond-blackfan anemia 9.8 THPO IL3 EPOR EPO
33 von hippel-lindau syndrome 9.8
34 hypoxia 9.8
35 anemia of prematurity 9.7 STAT5B STAT5A IL3 EPOR EPO
36 hematologic cancer 9.6 THPO STAT5B STAT5A JAK2 IL3
37 leukemia, acute myeloid 9.6 THPO STAT5B STAT5A JAK2 IL3
38 myelodysplastic syndrome 9.6 THPO STAT5A JAK2 IL3 EPOR EPO
39 bone marrow cancer 9.5 THPO STAT5B STAT5A JAK2 IL3 EPOR
40 myelofibrosis 9.4 THPO STAT5B STAT5A SH2B3 JAK2 IL3
41 essential thrombocythemia 9.3 THPO STAT5B STAT5A SH2B3 JAK2 IL3
42 leukemia, chronic myeloid 9.3 THPO STAT5B STAT5A STAT1 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

Symptoms via clinical synopsis from OMIM:

57
Cardiovascular Vascular:
hypertension
coronary artery disease
peripheral thrombosis

Cardiovascular Heart:
myocardial infarction

Hematology:
increased hematocrit
erythrocytosis
increased red blood cell mass
increased hemoglobin
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

Human phenotypes related to Erythrocytosis, Familial, 1:

59 32 (show all 24)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 fatigue 59 32 hallmark (90%) Very frequent (99-80%) HP:0012378
2 arthralgia 59 32 frequent (33%) Frequent (79-30%) HP:0002829
3 thromboembolism 59 32 occasional (7.5%) Occasional (29-5%) HP:0001907
4 abdominal pain 59 32 frequent (33%) Frequent (79-30%) HP:0002027
5 pruritus 59 32 frequent (33%) Frequent (79-30%) HP:0000989
6 venous thrombosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0004936
7 abnormal hemoglobin 59 32 hallmark (90%) Very frequent (99-80%) HP:0011902
8 vertigo 59 32 hallmark (90%) Very frequent (99-80%) HP:0002321
9 epistaxis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000421
10 cough 59 32 occasional (7.5%) Occasional (29-5%) HP:0012735
11 headache 59 32 hallmark (90%) Very frequent (99-80%) HP:0002315
12 polycythemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001901
13 exertional dyspnea 59 32 occasional (7.5%) Occasional (29-5%) HP:0002875
14 hypertension 32 HP:0000822
15 splenomegaly 32 HP:0001744
16 dyspnea 59 Very frequent (99-80%)
17 myocardial infarction 32 HP:0001658
18 abnormal bleeding 59 Occasional (29-5%)
19 cerebral hemorrhage 32 HP:0001342
20 increased hematocrit 32 HP:0001899
21 peripheral thrombosis 32 HP:0002641
22 plethora 32 HP:0001050
23 increased red blood cell mass 32 HP:0001898
24 increased hemoglobin 32 HP:0001900

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 10.06 EPN1 EPO EPOR JAK2 PIK3R1 SH2B3
2 hematopoietic system MP:0005397 10.02 EPO EPOR JAK2 PIK3R1 SH2B3 STAT1
3 homeostasis/metabolism MP:0005376 10.02 EPN1 EPO EPOR JAK2 PIK3R1 PIK3R2
4 immune system MP:0005387 9.91 EPO EPOR JAK2 PIK3R1 SH2B3 STAT1
5 liver/biliary system MP:0005370 9.7 EPO EPOR JAK2 PIK3R1 STAT1 STAT5A
6 neoplasm MP:0002006 9.35 EPN1 JAK2 PIK3R1 PIK3R2 STAT1
7 normal MP:0002873 9.23 EPN1 EPO EPOR JAK2 PIK3R1 STAT1

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 Protective Agents Phase 1
3 Cardiotonic Agents Phase 1
4 Anti-Arrhythmia Agents Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Phase 1 Study of Digoxin for Congenital Polycythemia Due to Up-Regulated Hypoxia Sensing Not yet recruiting NCT03433833 Phase 1 Digoxin
2 Genomic Screening for Hereditary Erythrocytosis and Related Diseases Recruiting NCT03263364

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, 1 29 EPOR JAK2 SH2B3

Anatomical Context for Erythrocytosis, Familial, 1

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

41
Heart, Lung, Brain, Testes, Spleen, Bone, Bone Marrow

Publications for Erythrocytosis, Familial, 1

Articles related to Erythrocytosis, Familial, 1:

# Title Authors Year
1
Erythropoietin hypersensitivity in primary familial and congenital polycythemia: role of tyrosines Y285 and Y344 in erythropoietin receptor cytoplasmic domain. ( 15878737 )
2005
2
Possible primary familial and congenital polycythemia locus at 7q22.1-7q22.2. ( 14636647 )
2003
3
Genetic heterogeneity of primary familial and congenital polycythemia. ( 11559951 )
2001
4
Primary Familial and Congenital Polycythemia ( 27831681 )
1993

Variations for Erythrocytosis, Familial, 1

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

75
# Symbol AA change Variation ID SNP ID
1 EPOR p.Asn487Ser VAR_027372 rs62638745

ClinVar genetic disease variations for Erythrocytosis, Familial, 1:

6 (show top 50) (show all 525)
# Gene Variation Type Significance SNP ID Assembly Location
1 JAK2 NM_004972.3(JAK2): c.1849G> T (p.Val617Phe) single nucleotide variant Pathogenic rs77375493 GRCh37 Chromosome 9, 5073770: 5073770
2 JAK2 NM_004972.3(JAK2): c.1849G> T (p.Val617Phe) single nucleotide variant Pathogenic rs77375493 GRCh38 Chromosome 9, 5073770: 5073770
3 EPOR NM_000121.3(EPOR): c.1278C> G (p.Tyr426Ter) single nucleotide variant Affects rs121917831 GRCh37 Chromosome 19, 11488909: 11488909
4 EPOR NM_000121.3(EPOR): c.1278C> G (p.Tyr426Ter) single nucleotide variant Affects rs121917831 GRCh38 Chromosome 19, 11378233: 11378233
5 EPOR EPOR, 5968_5975DUP duplication Affects
6 EPOR NM_000121.3(EPOR): c.1317G> A (p.Trp439Ter) single nucleotide variant Pathogenic rs121918116 GRCh37 Chromosome 19, 11488870: 11488870
7 EPOR NM_000121.3(EPOR): c.1317G> A (p.Trp439Ter) single nucleotide variant Pathogenic rs121918116 GRCh38 Chromosome 19, 11378194: 11378194
8 EPOR NM_000121.3(EPOR): c.1288dup (p.Asp430Glyfs) duplication Affects GRCh37 Chromosome 19, 11488899: 11488899
9 EPOR NM_000121.3(EPOR): c.1288dup (p.Asp430Glyfs) duplication Affects GRCh38 Chromosome 19, 11378223: 11378223
10 EPOR NM_000121.3(EPOR): c.1281dup (p.Ile428Tyrfs) duplication Affects GRCh37 Chromosome 19, 11488906: 11488906
11 EPOR NM_000121.3(EPOR): c.1281dup (p.Ile428Tyrfs) duplication Affects GRCh38 Chromosome 19, 11378230: 11378230
12 EPOR NM_000121.3(EPOR): c.1460A> G (p.Asn487Ser) single nucleotide variant Likely benign rs62638745 GRCh37 Chromosome 19, 11488727: 11488727
13 EPOR NM_000121.3(EPOR): c.1460A> G (p.Asn487Ser) single nucleotide variant Likely benign rs62638745 GRCh38 Chromosome 19, 11378051: 11378051
14 EPOR NM_000121.3(EPOR): c.1299_1305delCCAGCTC (p.Gln434Cysfs) deletion Affects GRCh37 Chromosome 19, 11488882: 11488888
15 EPOR NM_000121.3(EPOR): c.1299_1305delCCAGCTC (p.Gln434Cysfs) deletion Affects GRCh38 Chromosome 19, 11378206: 11378212
16 SH2B3 NM_005475.2(SH2B3): c.622G> T (p.Glu208Ter) single nucleotide variant Affects rs202080221 GRCh37 Chromosome 12, 111856571: 111856571
17 SH2B3 NM_005475.2(SH2B3): c.622G> T (p.Glu208Ter) single nucleotide variant Affects rs202080221 GRCh38 Chromosome 12, 111418767: 111418767
18 EGLN1 NM_022051.2(EGLN1): c.380G> C (p.Cys127Ser) single nucleotide variant Benign rs12097901 GRCh37 Chromosome 1, 231557255: 231557255
19 EGLN1 NM_022051.2(EGLN1): c.380G> C (p.Cys127Ser) single nucleotide variant Benign rs12097901 GRCh38 Chromosome 1, 231421509: 231421509
20 EGLN1 NM_022051.2(EGLN1): c.12C> G (p.Asp4Glu) single nucleotide variant Benign/Likely benign rs186996510 GRCh37 Chromosome 1, 231557623: 231557623
21 EGLN1 NM_022051.2(EGLN1): c.12C> G (p.Asp4Glu) single nucleotide variant Benign/Likely benign rs186996510 GRCh38 Chromosome 1, 231421877: 231421877
22 EGLN1 NM_022051.2(EGLN1): c.471G> C (p.Gln157His) single nucleotide variant Benign/Likely benign rs61750991 GRCh37 Chromosome 1, 231557164: 231557164
23 EGLN1 NM_022051.2(EGLN1): c.471G> C (p.Gln157His) single nucleotide variant Benign/Likely benign rs61750991 GRCh38 Chromosome 1, 231421418: 231421418
24 EPOR NM_000121.3(EPOR): c.1462C> T (p.Pro488Ser) single nucleotide variant Likely benign rs142094773 GRCh38 Chromosome 19, 11378049: 11378049
25 EPOR NM_000121.3(EPOR): c.1462C> T (p.Pro488Ser) single nucleotide variant Likely benign rs142094773 GRCh37 Chromosome 19, 11488725: 11488725
26 EPOR NM_000121.3(EPOR): c.1316G> A (p.Trp439Ter) single nucleotide variant Pathogenic rs121917830 GRCh38 Chromosome 19, 11378195: 11378195
27 EPOR NM_000121.3(EPOR): c.1316G> A (p.Trp439Ter) single nucleotide variant Pathogenic rs121917830 GRCh37 Chromosome 19, 11488871: 11488871
28 EPOR NM_000121.3(EPOR): c.1310G> A (p.Arg437His) single nucleotide variant Likely benign rs62638744 GRCh38 Chromosome 19, 11378201: 11378201
29 EPOR NM_000121.3(EPOR): c.1310G> A (p.Arg437His) single nucleotide variant Likely benign rs62638744 GRCh37 Chromosome 19, 11488877: 11488877
30 EGLN1 NM_022051.2(EGLN1): c.-1832G> A single nucleotide variant Uncertain significance rs886046127 GRCh38 Chromosome 1, 231423720: 231423720
31 EGLN1 NM_022051.2(EGLN1): c.-1832G> A single nucleotide variant Uncertain significance rs886046127 GRCh37 Chromosome 1, 231559466: 231559466
32 EGLN1 NM_022051.2(EGLN1): c.-2419G> C single nucleotide variant Likely benign rs188721782 GRCh38 Chromosome 1, 231424307: 231424307
33 EGLN1 NM_022051.2(EGLN1): c.-2419G> C single nucleotide variant Likely benign rs188721782 GRCh37 Chromosome 1, 231560053: 231560053
34 EGLN1 NM_022051.2(EGLN1): c.-2567C> T single nucleotide variant Likely benign rs193048016 GRCh38 Chromosome 1, 231424455: 231424455
35 EGLN1 NM_022051.2(EGLN1): c.-2567C> T single nucleotide variant Likely benign rs193048016 GRCh37 Chromosome 1, 231560201: 231560201
36 EGLN1 NM_022051.2(EGLN1): c.-2586T> C single nucleotide variant Benign rs2153364 GRCh38 Chromosome 1, 231424474: 231424474
37 EGLN1 NM_022051.2(EGLN1): c.-2586T> C single nucleotide variant Benign rs2153364 GRCh37 Chromosome 1, 231560220: 231560220
38 EGLN1 NM_022051.2(EGLN1): c.-2592T> G single nucleotide variant Benign rs1361383 GRCh38 Chromosome 1, 231424480: 231424480
39 EGLN1 NM_022051.2(EGLN1): c.-2592T> G single nucleotide variant Benign rs1361383 GRCh37 Chromosome 1, 231560226: 231560226
40 EGLN1 NM_022051.2(EGLN1): c.-2735G> A single nucleotide variant Likely benign rs12094665 GRCh38 Chromosome 1, 231424623: 231424623
41 EGLN1 NM_022051.2(EGLN1): c.-2735G> A single nucleotide variant Likely benign rs12094665 GRCh37 Chromosome 1, 231560369: 231560369
42 EPAS1 NM_001430.4(EPAS1): c.-452A> C single nucleotide variant Uncertain significance rs886056076 GRCh38 Chromosome 2, 46297460: 46297460
43 EPAS1 NM_001430.4(EPAS1): c.-452A> C single nucleotide variant Uncertain significance rs886056076 GRCh37 Chromosome 2, 46524599: 46524599
44 EPAS1 NM_001430.4(EPAS1): c.-341dupT duplication Benign rs886056077 GRCh38 Chromosome 2, 46297571: 46297571
45 EPAS1 NM_001430.4(EPAS1): c.-341dupT duplication Benign rs886056077 GRCh37 Chromosome 2, 46524710: 46524710
46 EPAS1 NM_001430.4(EPAS1): c.-316C> A single nucleotide variant Uncertain significance rs886056078 GRCh38 Chromosome 2, 46297596: 46297596
47 EPAS1 NM_001430.4(EPAS1): c.-316C> A single nucleotide variant Uncertain significance rs886056078 GRCh37 Chromosome 2, 46524735: 46524735
48 EPAS1 NM_001430.4(EPAS1): c.-138G> T single nucleotide variant Uncertain significance rs886056081 GRCh38 Chromosome 2, 46297774: 46297774
49 EPAS1 NM_001430.4(EPAS1): c.-138G> T single nucleotide variant Uncertain significance rs886056081 GRCh37 Chromosome 2, 46524913: 46524913
50 EPAS1 NM_001430.4(EPAS1): c.-111G> C single nucleotide variant Uncertain significance rs530436826 GRCh38 Chromosome 2, 46297801: 46297801

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 109)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.86 EPOR IL3 JAK2 PIK3R1 PIK3R2 STAT1
2
Show member pathways
13.74 EPOR IL3 JAK2 PIK3R1 PIK3R2 STAT1
3
Show member pathways
13.7 EPO EPOR IL3 JAK2 PIK3R1 PIK3R2
4
Show member pathways
13.49 EPO EPOR IL3 JAK2 PIK3R1 PIK3R2
5
Show member pathways
13.4 EPOR IL3 JAK2 PIK3R1 PIK3R2 STAT1
6
Show member pathways
13.39 JAK2 PIK3R1 PIK3R2 STAT1 STAT5A STAT5B
7
Show member pathways
13.39 IL3 JAK2 PIK3R1 PIK3R2 STAT1 STAT5A
8
Show member pathways
13.32 IL3 JAK2 PIK3R1 PIK3R2 SH2B3 THPO
9
Show member pathways
13.3 EPN1 IL3 JAK2 PIK3R1 PIK3R2 THPO
10
Show member pathways
13.22 JAK2 PIK3R1 PIK3R2 STAT1 STAT5A STAT5B
11
Show member pathways
13.1 JAK2 PIK3R1 PIK3R2 STAT1 STAT5A STAT5B
12
Show member pathways
13.09 IL3 JAK2 PIK3R1 PIK3R2 STAT1 THPO
13
Show member pathways
13.06 EPO EPOR IL3 JAK2 PIK3R1 PIK3R2
14
Show member pathways
12.98 JAK2 PIK3R1 PIK3R2 STAT1 STAT5A STAT5B
15
Show member pathways
12.94 JAK2 PIK3R1 PIK3R2 STAT1 STAT5A STAT5B
16
Show member pathways
12.93 IL3 PIK3R1 PIK3R2 STAT1 STAT5A STAT5B
17
Show member pathways
12.92 EPO EPOR JAK2 PIK3R1 PIK3R2
18
Show member pathways
12.86 JAK2 PIK3R1 PIK3R2 STAT1 STAT5A STAT5B
19
Show member pathways
12.83 EPO EPOR JAK2 PIK3R1 PIK3R2 STAT5A
20
Show member pathways
12.82 JAK2 PIK3R1 PIK3R2 STAT5A STAT5B
21
Show member pathways
12.8 JAK2 PIK3R1 PIK3R2 STAT1 STAT5A STAT5B
22
Show member pathways
12.7 IL3 PIK3R1 PIK3R2 THPO
23 12.7 EPO EPOR IL3 JAK2 PIK3R1 PIK3R2
24
Show member pathways
12.67 PIK3R1 PIK3R2 STAT5A STAT5B
25
Show member pathways
12.66 JAK2 PIK3R1 PIK3R2 STAT1 STAT5A STAT5B
26 12.64 IL3 JAK2 STAT1 STAT5A STAT5B
27
Show member pathways
12.61 EPN1 JAK2 PIK3R1 PIK3R2
28
Show member pathways
12.6 JAK2 STAT1 STAT5A STAT5B
29
Show member pathways
12.56 PIK3R1 PIK3R2 STAT1 STAT5A STAT5B
30
Show member pathways
12.55 JAK2 PIK3R1 PIK3R2 STAT1
31
Show member pathways
12.55 JAK2 PIK3R1 PIK3R2 STAT1 STAT5A STAT5B
32 12.46 PIK3R1 PIK3R2 STAT5A STAT5B
33
Show member pathways
12.46 EPOR IL3 PIK3R1 PIK3R2 STAT5A THPO
34
Show member pathways
12.44 JAK2 PIK3R1 PIK3R2 STAT1 STAT5A STAT5B
35
Show member pathways
12.35 JAK2 PIK3R1 PIK3R2 STAT1
36 12.35 PIK3R1 PIK3R2 STAT5A STAT5B
37
Show member pathways
12.34 JAK2 PIK3R1 PIK3R2 STAT1 STAT5B
38
Show member pathways
12.33 JAK2 PIK3R1 PIK3R2 STAT1 STAT5A STAT5B
39
Show member pathways
12.32 EPO EPOR IL3 JAK2 PIK3R1 PIK3R2
40
Show member pathways
12.28 JAK2 STAT1 STAT5A STAT5B
41
Show member pathways
12.28 IL3 JAK2 PIK3R1 PIK3R2 STAT1 STAT5A
42
Show member pathways
12.23 PIK3R1 STAT1 STAT5A STAT5B
43
Show member pathways
12.22 IL3 JAK2 PIK3R1 PIK3R2
44
Show member pathways
12.2 PIK3R1 PIK3R2 STAT1
45 12.18 PIK3R1 PIK3R2 STAT1
46
Show member pathways
12.15 IL3 JAK2 PIK3R1 PIK3R2 STAT1 THPO
47 12.15 JAK2 PIK3R1 PIK3R2 STAT1 STAT5A STAT5B
48
Show member pathways
12.14 JAK2 STAT1 STAT5A STAT5B
49
Show member pathways
12.13 PIK3R1 PIK3R2 STAT1
50
Show member pathways
12.13 JAK2 PIK3R1 PIK3R2 STAT1

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 phosphatidylinositol 3-kinase complex GO:0005942 8.62 PIK3R1 PIK3R2

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

(show all 36)
# Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 9.91 EPO EPOR JAK2 PIK3R1 PIK3R2 SH2B3
2 positive regulation of cell proliferation GO:0008284 9.85 EPO IL3 JAK2 STAT1 STAT5B THPO
3 positive regulation of protein kinase B signaling GO:0051897 9.83 PIK3R1 PIK3R2 THPO
4 cellular response to insulin stimulus GO:0032869 9.74 PIK3R1 PIK3R2 STAT1
5 peptidyl-tyrosine phosphorylation GO:0018108 9.73 IL3 JAK2 STAT5A STAT5B
6 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.71 EPO IL3 JAK2
7 interleukin-7-mediated signaling pathway GO:0038111 9.67 STAT5A STAT5B
8 regulation of multicellular organism growth GO:0040014 9.67 STAT5A STAT5B
9 positive regulation of activated T cell proliferation GO:0042104 9.66 EPO STAT5B
10 2-oxoglutarate metabolic process GO:0006103 9.65 STAT5A STAT5B
11 positive regulation of glucose import in response to insulin stimulus GO:2001275 9.65 PIK3R1 PIK3R2
12 cellular glucose homeostasis GO:0001678 9.65 PIK3R1 PIK3R2
13 regulation of phosphatidylinositol 3-kinase activity GO:0043551 9.64 PIK3R1 PIK3R2
14 embryonic hemopoiesis GO:0035162 9.64 IL3 SH2B3
15 interleukin-6-mediated signaling pathway GO:0070102 9.63 JAK2 STAT1
16 positive regulation of nitric-oxide synthase biosynthetic process GO:0051770 9.63 JAK2 STAT1
17 interleukin-15-mediated signaling pathway GO:0035723 9.62 STAT5A STAT5B
18 regulation of interferon-gamma-mediated signaling pathway GO:0060334 9.62 JAK2 STAT1
19 growth hormone receptor signaling pathway GO:0060396 9.61 JAK2 PIK3R1
20 creatine metabolic process GO:0006600 9.61 STAT5A STAT5B
21 interleukin-27-mediated signaling pathway GO:0070106 9.6 JAK2 STAT1
22 interleukin-2-mediated signaling pathway GO:0038110 9.59 STAT5A STAT5B
23 interleukin-35-mediated signaling pathway GO:0070757 9.58 JAK2 STAT1
24 oxaloacetate metabolic process GO:0006107 9.58 STAT5A STAT5B
25 succinate metabolic process GO:0006105 9.56 STAT5A STAT5B
26 citrate metabolic process GO:0006101 9.55 STAT5A STAT5B
27 taurine metabolic process GO:0019530 9.52 STAT5A STAT5B
28 valine metabolic process GO:0006573 9.51 STAT5A STAT5B
29 JAK-STAT cascade involved in growth hormone signaling pathway GO:0060397 9.5 JAK2 STAT5A STAT5B
30 creatinine metabolic process GO:0046449 9.49 STAT5A STAT5B
31 erythropoietin-mediated signaling pathway GO:0038162 9.48 EPO EPOR
32 isoleucine metabolic process GO:0006549 9.46 STAT5A STAT5B
33 allantoin metabolic process GO:0000255 9.4 STAT5A STAT5B
34 interleukin-9-mediated signaling pathway GO:0038113 9.33 STAT1 STAT5A STAT5B
35 JAK-STAT cascade GO:0007259 9.26 JAK2 STAT1 STAT5A STAT5B
36 cytokine-mediated signaling pathway GO:0019221 9.17 EPOR IL3 JAK2 PIK3R1 STAT1 STAT5A

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 9.37 JAK2 PIK3R1
2 1-phosphatidylinositol-3-kinase regulator activity GO:0046935 9.32 PIK3R1 PIK3R2
3 insulin receptor substrate binding GO:0043560 9.26 JAK2 PIK3R1
4 transmembrane receptor protein tyrosine kinase adaptor activity GO:0005068 9.16 PIK3R1 SH2B3
5 phosphatidylinositol 3-kinase regulator activity GO:0035014 8.96 PIK3R1 PIK3R2
6 protein tyrosine kinase activity GO:0004713 8.92 IL3 JAK2 STAT5A STAT5B

Sources for Erythrocytosis, Familial, 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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