MCID: ERY058
MIFTS: 55

Erythrocytosis, Familial, 1

Categories: Genetic diseases, Rare diseases, Blood 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 primary polycythemia and polycythemia vera, and has symptoms including dizziness, fatigue and headache. An important gene associated with Erythrocytosis, Familial, 1 is EPOR (Erythropoietin Receptor), and among its related pathways/superpathways are ERK Signaling and GPCR Pathway. Affiliated tissues include heart, testes and spleen, and related phenotypes are fatigue and arthralgia

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.

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.

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 39)
# Related Disease Score Top Affiliating Genes
1 primary polycythemia 31.5 EPO EPOR IL3 JAK2
2 polycythemia vera 29.4 EPO EPOR IL3 JAK2 STAT5A THPO
3 erythrocytosis, familial, 5 10.9
4 myeloid and lymphoid neoplasms with eosinophilia and abnormalities of pdgfra, pdgfrb, and fgfr1 10.5 DPM1 JAK2
5 erythrocytosis, familial, 2 10.5 EPO EPOR
6 acquired polycythemia 10.4 EPO EPOR JAK2
7 neonatal anemia 10.4 EPO EPOR
8 thrombocythemia 1 10.4 SH2B3 THPO
9 acute erythroid leukemia 10.4 EPO EPOR JAK2
10 folic acid deficiency anemia 10.3 EPO THPO
11 myeloproliferative neoplasm 10.3 JAK2 SH2B3 STAT5B
12 b cell linker protein deficiency 10.2 STAT5A STAT5B
13 cellular congenital mesoblastic nephroma 10.2 STAT5A STAT5B
14 jak3-deficient severe combined immunodeficiency 10.1 STAT5A STAT5B
15 splenomegaly 10.1 EPO JAK2
16 splenic disease 10.1 EPO THPO
17 amegakaryocytic thrombocytopenia, congenital 10.1 IL3 THPO
18 retinitis pigmentosa and erythrocytic microcytosis 10.1 EPO IL3 JAK2
19 refractory anemia 10.1 EPO IL3 JAK2
20 hypersplenism 10.0 EPO PIK3R1 THPO
21 isolated growth hormone deficiency, type ii 10.0 JAK2 STAT5A STAT5B
22 ewing's family of tumors 9.9 EPO EPOR
23 megakaryocytic leukemia 9.8 IL3 JAK2 THPO
24 pancytopenia 9.8 EPO IL3 THPO
25 neutropenia 9.6 EPO IL3 THPO
26 human t-cell leukemia virus type 2 9.6 STAT1 STAT5A
27 thrombocytosis 9.6 EPO IL3 JAK2 THPO
28 immune system disease 9.6 EPO IL3 JAK2 THPO
29 deficiency anemia 9.5 EPO EPOR IL3 THPO
30 diamond-blackfan anemia 9.5 EPO EPOR IL3 THPO
31 anemia of prematurity 9.1 EPO EPOR IL3 STAT5A STAT5B
32 hematologic cancer 8.9 IL3 JAK2 STAT5A STAT5B THPO
33 leukemia, acute myeloid 8.9 IL3 JAK2 STAT5A STAT5B THPO
34 polycythemia 8.7 EPO EPOR IL3 JAK2 STAT5A THPO
35 myelodysplastic syndrome 8.7 EPO EPOR IL3 JAK2 STAT5A THPO
36 bone marrow cancer 8.3 EPO EPOR IL3 JAK2 STAT5A STAT5B
37 myelofibrosis 8.2 EPO IL3 JAK2 SH2B3 STAT5A STAT5B
38 essential thrombocythemia 7.9 EPO EPOR IL3 JAK2 SH2B3 STAT5A
39 leukemia, chronic myeloid 7.8 EPO IL3 JAK2 STAT1 STAT5A STAT5B

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

AbdomenSpleen:
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:


dizziness, fatigue, headache, 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 STAT5B EPN1 EPO EPOR JAK2 PIK3R1
2 hematopoietic system MP:0005397 10.02 THPO EPO EPOR JAK2 PIK3R1 SH2B3
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

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
3 Molecular Biology of Polycythemia and Thrombocytosis Recruiting NCT00722527

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, Testes, Spleen

Publications for Erythrocytosis, Familial, 1

Articles related to Erythrocytosis, Familial, 1:

# Title Authors Year
1
Ligand-induced EpoR internalization is mediated by JAK2 and p85 and is impaired by mutations responsible for primary familial and congenital polycythemia. ( 19336760 )
2009
2
Erythropoietin hypersensitivity in primary familial and congenital polycythemia: role of tyrosines Y285 and Y344 in erythropoietin receptor cytoplasmic domain. ( 15878737 )
2005
3
Possible primary familial and congenital polycythemia locus at 7q22.1-7q22.2. ( 14636647 )
2003
4
Genetic heterogeneity of primary familial and congenital polycythemia. ( 11559951 )
2001
5
Two new EPO receptor mutations: truncated EPO receptors are most frequently associated with primary familial and congenital polycythemias. ( 9292543 )
1997
6
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 512)
# 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.1317G> A (p.Trp439Ter) single nucleotide variant Pathogenic rs121918116 GRCh37 Chromosome 19, 11488870: 11488870
4 EPOR NM_000121.3(EPOR): c.1317G> A (p.Trp439Ter) single nucleotide variant Pathogenic rs121918116 GRCh38 Chromosome 19, 11378194: 11378194
5 EGLN1 NM_022051.2(EGLN1): c.380G> C (p.Cys127Ser) single nucleotide variant Benign rs12097901 GRCh37 Chromosome 1, 231557255: 231557255
6 EGLN1 NM_022051.2(EGLN1): c.380G> C (p.Cys127Ser) single nucleotide variant Benign rs12097901 GRCh38 Chromosome 1, 231421509: 231421509
7 EGLN1 NM_022051.2(EGLN1): c.12C> G (p.Asp4Glu) single nucleotide variant Benign/Likely benign rs186996510 GRCh37 Chromosome 1, 231557623: 231557623
8 EGLN1 NM_022051.2(EGLN1): c.12C> G (p.Asp4Glu) single nucleotide variant Benign/Likely benign rs186996510 GRCh38 Chromosome 1, 231421877: 231421877
9 EGLN1 NM_022051.2(EGLN1): c.471G> C (p.Gln157His) single nucleotide variant Benign/Likely benign rs61750991 GRCh37 Chromosome 1, 231557164: 231557164
10 EGLN1 NM_022051.2(EGLN1): c.471G> C (p.Gln157His) single nucleotide variant Benign/Likely benign rs61750991 GRCh38 Chromosome 1, 231421418: 231421418
11 EPOR NM_000121.3(EPOR): c.1462C> T (p.Pro488Ser) single nucleotide variant Likely benign rs142094773 GRCh38 Chromosome 19, 11378049: 11378049
12 EPOR NM_000121.3(EPOR): c.1462C> T (p.Pro488Ser) single nucleotide variant Likely benign rs142094773 GRCh37 Chromosome 19, 11488725: 11488725
13 EPOR NM_000121.3(EPOR): c.1316G> A (p.Trp439Ter) single nucleotide variant Pathogenic rs121917830 GRCh38 Chromosome 19, 11378195: 11378195
14 EPOR NM_000121.3(EPOR): c.1316G> A (p.Trp439Ter) single nucleotide variant Pathogenic rs121917830 GRCh37 Chromosome 19, 11488871: 11488871
15 EPOR NM_000121.3(EPOR): c.1310G> A (p.Arg437His) single nucleotide variant Likely benign rs62638744 GRCh38 Chromosome 19, 11378201: 11378201
16 EPOR NM_000121.3(EPOR): c.1310G> A (p.Arg437His) single nucleotide variant Likely benign rs62638744 GRCh37 Chromosome 19, 11488877: 11488877
17 EGLN1 NM_022051.2(EGLN1): c.*2598G> A single nucleotide variant Likely benign rs77496832 GRCh38 Chromosome 1, 231363813: 231363813
18 EGLN1 NM_022051.2(EGLN1): c.*2598G> A single nucleotide variant Likely benign rs77496832 GRCh37 Chromosome 1, 231499559: 231499559
19 EGLN1 NM_022051.2(EGLN1): c.*2416_*2419delTTGT deletion Likely benign rs574848765 GRCh38 Chromosome 1, 231363992: 231363995
20 EGLN1 NM_022051.2(EGLN1): c.*2416_*2419delTTGT deletion Likely benign rs574848765 GRCh37 Chromosome 1, 231499738: 231499741
21 EGLN1 NM_022051.2(EGLN1): c.*2235C> G single nucleotide variant Likely benign rs191867 GRCh38 Chromosome 1, 231364176: 231364176
22 EGLN1 NM_022051.2(EGLN1): c.*2235C> G single nucleotide variant Likely benign rs191867 GRCh37 Chromosome 1, 231499922: 231499922
23 EGLN1 NM_022051.2(EGLN1): c.*2061C> G single nucleotide variant Benign rs116262857 GRCh38 Chromosome 1, 231364350: 231364350
24 EGLN1 NM_022051.2(EGLN1): c.*2061C> G single nucleotide variant Benign rs116262857 GRCh37 Chromosome 1, 231500096: 231500096
25 EGLN1 NM_022051.2(EGLN1): c.*2044G> A single nucleotide variant Uncertain significance rs886046096 GRCh38 Chromosome 1, 231364367: 231364367
26 EGLN1 NM_022051.2(EGLN1): c.*2044G> A single nucleotide variant Uncertain significance rs886046096 GRCh37 Chromosome 1, 231500113: 231500113
27 EGLN1 NM_022051.2(EGLN1): c.*1965A> G single nucleotide variant Uncertain significance rs185322052 GRCh38 Chromosome 1, 231364446: 231364446
28 EGLN1 NM_022051.2(EGLN1): c.*1965A> G single nucleotide variant Uncertain significance rs185322052 GRCh37 Chromosome 1, 231500192: 231500192
29 EGLN1 NM_022051.2(EGLN1): c.*1802_*1803dupAA duplication Uncertain significance rs541569859 GRCh37 Chromosome 1, 231500354: 231500355
30 EGLN1 NM_022051.2(EGLN1): c.*1802_*1803dupAA duplication Uncertain significance rs541569859 GRCh38 Chromosome 1, 231364608: 231364609
31 EGLN1 NM_022051.2(EGLN1): c.*1434_*1436delCTT deletion Likely benign rs201012894 GRCh37 Chromosome 1, 231500721: 231500723
32 EGLN1 NM_022051.2(EGLN1): c.*1434_*1436delCTT deletion Likely benign rs201012894 GRCh38 Chromosome 1, 231364975: 231364977
33 EGLN1 NM_022051.2(EGLN1): c.*1010C> T single nucleotide variant Uncertain significance rs886046100 GRCh37 Chromosome 1, 231501147: 231501147
34 EGLN1 NM_022051.2(EGLN1): c.*1010C> T single nucleotide variant Uncertain significance rs886046100 GRCh38 Chromosome 1, 231365401: 231365401
35 EGLN1 NM_022051.2(EGLN1): c.*663C> T single nucleotide variant Uncertain significance rs375652885 GRCh37 Chromosome 1, 231501494: 231501494
36 EGLN1 NM_022051.2(EGLN1): c.*663C> T single nucleotide variant Uncertain significance rs375652885 GRCh38 Chromosome 1, 231365748: 231365748
37 EGLN1 NM_022051.2(EGLN1): c.*555_*559delAAAAG deletion Uncertain significance rs886046105 GRCh38 Chromosome 1, 231365852: 231365856
38 EGLN1 NM_022051.2(EGLN1): c.*555_*559delAAAAG deletion Uncertain significance rs886046105 GRCh37 Chromosome 1, 231501598: 231501602
39 EGLN1 NM_022051.2(EGLN1): c.1272C> T (p.Asp424=) single nucleotide variant Benign/Likely benign rs61734647 GRCh38 Chromosome 1, 231366420: 231366420
40 EGLN1 NM_022051.2(EGLN1): c.1272C> T (p.Asp424=) single nucleotide variant Benign/Likely benign rs61734647 GRCh37 Chromosome 1, 231502166: 231502166
41 EGLN1 NM_022051.2(EGLN1): c.359C> T (p.Pro120Leu) single nucleotide variant Uncertain significance rs796280222 GRCh38 Chromosome 1, 231421530: 231421530
42 EGLN1 NM_022051.2(EGLN1): c.359C> T (p.Pro120Leu) single nucleotide variant Uncertain significance rs796280222 GRCh37 Chromosome 1, 231557276: 231557276
43 EGLN1 NM_022051.2(EGLN1): c.253C> G (p.Pro85Ala) single nucleotide variant Uncertain significance rs886046111 GRCh38 Chromosome 1, 231421636: 231421636
44 EGLN1 NM_022051.2(EGLN1): c.253C> G (p.Pro85Ala) single nucleotide variant Uncertain significance rs886046111 GRCh37 Chromosome 1, 231557382: 231557382
45 EGLN1 NM_022051.2(EGLN1): c.53G> A (p.Arg18Gln) single nucleotide variant Uncertain significance rs886046112 GRCh38 Chromosome 1, 231421836: 231421836
46 EGLN1 NM_022051.2(EGLN1): c.53G> A (p.Arg18Gln) single nucleotide variant Uncertain significance rs886046112 GRCh37 Chromosome 1, 231557582: 231557582
47 EGLN1 NM_022051.2(EGLN1): c.-516A> C single nucleotide variant Uncertain significance rs886046119 GRCh37 Chromosome 1, 231558150: 231558150
48 EGLN1 NM_022051.2(EGLN1): c.-516A> C single nucleotide variant Uncertain significance rs886046119 GRCh38 Chromosome 1, 231422404: 231422404
49 EGLN1 NM_022051.2(EGLN1): c.-655G> A single nucleotide variant Uncertain significance rs886046121 GRCh37 Chromosome 1, 231558289: 231558289
50 EGLN1 NM_022051.2(EGLN1): c.-655G> A single nucleotide variant Uncertain significance rs886046121 GRCh38 Chromosome 1, 231422543: 231422543

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 100)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.86 EPOR IL3 JAK2 PIK3R1 PIK3R2 STAT1
2
Show member pathways
13.73 EPOR IL3 JAK2 PIK3R1 PIK3R2 STAT1
3
Show member pathways
13.69 EPO EPOR IL3 JAK2 PIK3R1 PIK3R2
4
Show member pathways
13.46 EPO EPOR IL3 JAK2 PIK3R1 PIK3R2
5
Show member pathways
13.39 EPOR IL3 JAK2 PIK3R1 PIK3R2 STAT1
6
Show member pathways
13.38 JAK2 PIK3R1 PIK3R2 STAT1 STAT5A STAT5B
7
Show member pathways
13.38 IL3 JAK2 PIK3R1 PIK3R2 STAT1 STAT5A
8
Show member pathways
13.31 IL3 JAK2 PIK3R1 PIK3R2 SH2B3 THPO
9
Show member pathways
13.29 EPN1 IL3 JAK2 PIK3R1 PIK3R2 THPO
10
Show member pathways
13.09 IL3 JAK2 PIK3R1 PIK3R2 STAT1 THPO
11
Show member pathways
13.03 EPO EPOR IL3 JAK2 PIK3R1 PIK3R2
12
Show member pathways
12.97 JAK2 PIK3R1 PIK3R2 STAT1 STAT5A STAT5B
13
Show member pathways
12.94 JAK2 PIK3R1 PIK3R2 STAT1 STAT5A STAT5B
14
Show member pathways
12.93 JAK2 PIK3R1 PIK3R2 STAT1 STAT5A STAT5B
15
Show member pathways
12.92 EPO EPOR JAK2 PIK3R1 PIK3R2
16
Show member pathways
12.92 IL3 PIK3R1 PIK3R2 STAT1 STAT5A STAT5B
17
Show member pathways
12.85 JAK2 PIK3R1 PIK3R2 STAT1 STAT5A STAT5B
18
Show member pathways
12.85 JAK2 PIK3R1 PIK3R2 STAT1 STAT5A STAT5B
19
Show member pathways
12.82 EPO EPOR JAK2 PIK3R1 PIK3R2 STAT5A
20
Show member pathways
12.81 JAK2 PIK3R1 PIK3R2 STAT5A STAT5B
21 12.7 EPO EPOR IL3 JAK2 PIK3R1 PIK3R2
22
Show member pathways
12.69 IL3 PIK3R1 PIK3R2 THPO
23
Show member pathways
12.66 PIK3R1 PIK3R2 STAT5A STAT5B
24
Show member pathways
12.66 JAK2 PIK3R1 PIK3R2 STAT1 STAT5A STAT5B
25
Show member pathways
12.64 JAK2 PIK3R1 PIK3R2 STAT1 STAT5A STAT5B
26 12.63 IL3 JAK2 STAT1 STAT5A STAT5B
27
Show member pathways
12.6 EPN1 JAK2 PIK3R1 PIK3R2
28
Show member pathways
12.55 PIK3R1 PIK3R2 STAT1 STAT5A STAT5B
29
Show member pathways
12.54 JAK2 PIK3R1 PIK3R2 STAT1
30
Show member pathways
12.53 JAK2 PIK3R1 PIK3R2 STAT1 STAT5A STAT5B
31
Show member pathways
12.47 JAK2 STAT1 STAT5A STAT5B
32 12.45 PIK3R1 PIK3R2 STAT5A STAT5B
33
Show member pathways
12.4 IL3 JAK2 PIK3R1 PIK3R2 STAT1 STAT5A
34 12.35 PIK3R1 PIK3R2 STAT5A STAT5B
35
Show member pathways
12.34 JAK2 PIK3R1 PIK3R2 STAT1 STAT5A STAT5B
36
Show member pathways
12.31 JAK2 STAT1 STAT5A STAT5B
37
Show member pathways
12.28 JAK2 PIK3R1 STAT1 STAT5B
38
Show member pathways
12.27 JAK2 STAT1 STAT5A STAT5B
39
Show member pathways
12.25 JAK2 STAT1 STAT5A STAT5B
40
Show member pathways
12.25 EPO EPOR IL3 JAK2 PIK3R1 PIK3R2
41
Show member pathways
12.22 PIK3R1 STAT1 STAT5A STAT5B
42
Show member pathways
12.21 IL3 JAK2 PIK3R1 PIK3R2
43
Show member pathways
12.19 PIK3R1 PIK3R2 STAT1
44 12.17 PIK3R1 PIK3R2 STAT1
45
Show member pathways
12.16 IL3 JAK2 PIK3R1 PIK3R2 STAT1 THPO
46 12.15 JAK2 PIK3R1 PIK3R2 STAT1 STAT5A STAT5B
47
Show member pathways
12.13 PIK3R1 PIK3R2 STAT1
48 12.13 EPN1 JAK2 PIK3R1 PIK3R2 STAT1 STAT5A
49
Show member pathways
12.1 JAK2 PIK3R1 PIK3R2 STAT1 STAT5A STAT5B
50 12.09 JAK2 PIK3R1 PIK3R2

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 positive regulation of cell proliferation GO:0008284 9.91 EPO IL3 JAK2 STAT1 STAT5B
2 signal transduction GO:0007165 9.91 EPO EPOR JAK2 PIK3R1 PIK3R2 SH2B3
3 positive regulation of protein kinase B signaling GO:0051897 9.83 PIK3R1 PIK3R2 THPO
4 cellular response to insulin stimulus GO:0032869 9.75 PIK3R1 PIK3R2 STAT1
5 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.7 EPO IL3 JAK2
6 positive regulation of protein import into nucleus GO:0042307 9.67 PIK3R1 PIK3R2
7 regulation of multicellular organism growth GO:0040014 9.67 STAT5A STAT5B
8 peptidyl-tyrosine phosphorylation GO:0018108 9.67 IL3 JAK2 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 embryonic hemopoiesis GO:0035162 9.65 IL3 SH2B3
13 obsolete positive regulation of transcription factor import into nucleus GO:0042993 9.64 PIK3R1 PIK3R2
14 interleukin-6-mediated signaling pathway GO:0070102 9.64 JAK2 STAT1
15 positive regulation of nitric-oxide synthase biosynthetic process GO:0051770 9.63 JAK2 STAT1
16 cellular glucose homeostasis GO:0001678 9.63 PIK3R1 PIK3R2
17 regulation of interferon-gamma-mediated signaling pathway GO:0060334 9.62 JAK2 STAT1
18 interleukin-15-mediated signaling pathway GO:0035723 9.62 STAT5A STAT5B
19 oxaloacetate metabolic process GO:0006107 9.61 STAT5A STAT5B
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 growth hormone receptor signaling pathway GO:0060396 9.57 JAK2 PIK3R1
25 regulation of phosphatidylinositol 3-kinase activity GO:0043551 9.56 PIK3R1 PIK3R2
26 succinate metabolic process GO:0006105 9.55 STAT5A STAT5B
27 citrate metabolic process GO:0006101 9.54 STAT5A STAT5B
28 valine metabolic process GO:0006573 9.49 STAT5A STAT5B
29 taurine metabolic process GO:0019530 9.48 STAT5A STAT5B
30 erythropoietin-mediated signaling pathway GO:0038162 9.46 EPO EPOR
31 creatinine metabolic process GO:0046449 9.43 STAT5A STAT5B
32 isoleucine metabolic process GO:0006549 9.4 STAT5A STAT5B
33 JAK-STAT cascade involved in growth hormone signaling pathway GO:0060397 9.33 JAK2 STAT5A STAT5B
34 allantoin metabolic process GO:0000255 9.32 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 9.32 JAK2 PIK3R1
2 insulin receptor substrate binding GO:0043560 9.26 JAK2 PIK3R1
3 1-phosphatidylinositol-3-kinase regulator activity GO:0046935 9.16 PIK3R1 PIK3R2
4 phosphatidylinositol 3-kinase regulator activity GO:0035014 8.96 PIK3R1 PIK3R2
5 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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