ECYT1
MCID: ERY058
MIFTS: 58

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 58 76
Primary Familial and Congenital Polycythemia 12 25 54 60
Ecyt1 58 25 54 76
Pfcp 58 54 60 76
Familial Erythrocytosis 1 12 54 15
Familial Erythrocytosis 54 60 74
Congenital Erythrocytosis Due to Erythropoietin Receptor Mutation 54 60
Congenital Polycythemia Due to Erythropoietin Receptor Mutation 54 60
Polycythemia, Primary Familial and Congenital 58 54
Autosomal Dominant Benign Erythrocytosis 12 76
Primary Congenital Erythrocytosis 54 60
Familial Erythrocytosis Type 1 25 54
Primary Familial Polycythemia 54 60
Familial Erythrocytosis, 1 30 6
Erythrocytosis, Somatic 58 13
Polycythemia, Primary Familial and Congenital; Pfcp 58
Autosomal Dominant Familial Erythrocytosis-1 54
Erythrocytosis, Autosomal Dominant Benign 58
Erythrocytosis Autosomal Dominant Benign 54
Erythrocytosis, Familial, Type 1 41
Familial Primary Polycythemia 76

Characteristics:

Orphanet epidemiological data:

60
primary familial polycythemia
Inheritance: Autosomal dominant; Age of onset: All ages; Age of death: normal life expectancy;

OMIM:

58
Miscellaneous:
fatigue
variable phenotype, some patients have very mild symptoms
see also ecyt2 and ecyt3

Inheritance:
autosomal dominant


HPO:

33
erythrocytosis, familial, 1:
Inheritance autosomal dominant inheritance


GeneReviews:

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

Classifications:



Summaries for Erythrocytosis, Familial, 1

NIH Rare Diseases : 54 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 Anti-Arrhythmia Agents have been mentioned in the context of this disorder. Affiliated tissues include heart, lung and brain, and related phenotypes are fatigue and venous thrombosis

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 : 26 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 : 58 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 : 76 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 : 77 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
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 32.2 EPO EPOR
2 primary polycythemia 31.6 JAK2 IL3 EPOR EPO DPM1
3 polycythemia vera 30.7 THPO STAT5A JAK2 IL3 EPOR EPO
4 polycythemia 29.3 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 DPM1 JAK2
10 neonatal anemia 10.2 EPO EPOR
11 acquired polycythemia 10.2 JAK2 EPOR EPO
12 thrombocythemia 1 10.1 SH2B3 THPO
13 myeloproliferative neoplasm 10.1 JAK2 SH2B3 STAT5B
14 folic acid deficiency anemia 10.1 EPO THPO
15 b cell linker protein deficiency 10.1 STAT5A STAT5B
16 cellular congenital mesoblastic nephroma 10.1 STAT5A STAT5B
17 erythroleukemia, familial 10.1 EPOR EPO
18 retinitis pigmentosa and erythrocytic microcytosis 10.1 JAK2 IL3 EPO
19 refractory anemia 10.1 JAK2 IL3 EPO
20 jak3-deficient severe combined immunodeficiency 10.1 STAT5A STAT5B
21 chronic leukemia 10.0 STAT5B STAT5A JAK2
22 isolated growth hormone deficiency, type ii 10.0 STAT5B STAT5A JAK2
23 splenic disease 10.0 THPO EPO
24 ewing's family of tumors 10.0 EPOR EPO
25 hypersplenism 9.9 THPO PIK3R1 EPO
26 amegakaryocytic thrombocytopenia, congenital 9.9 THPO IL3
27 megakaryocytic leukemia 9.9 THPO JAK2 IL3
28 pancytopenia 9.9 EPO IL3 THPO
29 human t-cell leukemia virus type 2 9.9 STAT5A STAT1
30 von hippel-lindau syndrome 9.8
31 hypoxia 9.8
32 thrombocytosis 9.8 EPO IL3 JAK2 THPO
33 deficiency anemia 9.8 THPO IL3 EPOR EPO
34 diamond-blackfan anemia 9.7 EPO EPOR IL3 THPO
35 anemia of prematurity 9.6 STAT5B STAT5A IL3 EPOR EPO
36 hematologic cancer 9.4 THPO STAT5B STAT5A JAK2 IL3
37 leukemia, acute myeloid 9.4 THPO STAT5B STAT5A JAK2 IL3
38 myelodysplastic syndrome 9.3 EPO EPOR IL3 JAK2 STAT5A THPO
39 bone marrow cancer 9.1 EPO EPOR IL3 JAK2 STAT5A STAT5B
40 myelofibrosis 9.1 EPO IL3 JAK2 SH2B3 STAT5A STAT5B
41 essential thrombocythemia 9.0 JAK2 IL3 EPOR EPO SH2B3 STAT5A
42 leukemia, chronic myeloid 8.9 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

Human phenotypes related to Erythrocytosis, Familial, 1:

60 33 (show all 24)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 fatigue 60 33 hallmark (90%) Very frequent (99-80%) HP:0012378
2 venous thrombosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0004936
3 abnormal hemoglobin 60 33 hallmark (90%) Very frequent (99-80%) HP:0011902
4 vertigo 60 33 hallmark (90%) Very frequent (99-80%) HP:0002321
5 epistaxis 60 33 hallmark (90%) Very frequent (99-80%) HP:0000421
6 headache 60 33 hallmark (90%) Very frequent (99-80%) HP:0002315
7 polycythemia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001901
8 arthralgia 60 33 frequent (33%) Frequent (79-30%) HP:0002829
9 abdominal pain 60 33 frequent (33%) Frequent (79-30%) HP:0002027
10 pruritus 60 33 frequent (33%) Frequent (79-30%) HP:0000989
11 thromboembolism 60 33 occasional (7.5%) Occasional (29-5%) HP:0001907
12 cough 60 33 occasional (7.5%) Occasional (29-5%) HP:0012735
13 exertional dyspnea 60 33 occasional (7.5%) Occasional (29-5%) HP:0002875
14 hypertension 33 HP:0000822
15 splenomegaly 33 HP:0001744
16 dyspnea 60 Very frequent (99-80%)
17 myocardial infarction 33 HP:0001658
18 abnormal bleeding 60 Occasional (29-5%)
19 cerebral hemorrhage 33 HP:0001342
20 increased hematocrit 33 HP:0001899
21 peripheral thrombosis 33 HP:0002641
22 plethora 33 HP:0001050
23 increased red blood cell mass 33 HP:0001898
24 increased hemoglobin 33 HP:0001900

Symptoms via clinical synopsis from OMIM:

58
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

UMLS symptoms related to Erythrocytosis, Familial, 1:


fatigue, headache, dizziness, dyspnea on exertion

MGI Mouse Phenotypes related to Erythrocytosis, Familial, 1:

47
# 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 Anti-Arrhythmia Agents Phase 1
3 Cardiotonic Agents Phase 1
4 Protective 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
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 30 EPOR JAK2 SH2B3

Anatomical Context for Erythrocytosis, Familial, 1

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

42
Heart, Lung, Brain, Testes, Spleen

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:

76
# 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 527)
# 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 EPOR NM_000121.3(EPOR): c.1288dup (p.Asp430Glyfs) duplication Affects rs1555716045 GRCh37 Chromosome 19, 11488899: 11488899
6 EPOR NM_000121.3(EPOR): c.1288dup (p.Asp430Glyfs) duplication Affects rs1555716045 GRCh38 Chromosome 19, 11378223: 11378223
7 EPOR NM_000121.3(EPOR): c.1281dup (p.Ile428Tyrfs) duplication Affects rs1555716047 GRCh37 Chromosome 19, 11488906: 11488906
8 EPOR NM_000121.3(EPOR): c.1281dup (p.Ile428Tyrfs) duplication Affects rs1555716047 GRCh38 Chromosome 19, 11378230: 11378230
9 EPOR NM_000121.3(EPOR): c.1460A> G (p.Asn487Ser) single nucleotide variant Likely benign rs62638745 GRCh37 Chromosome 19, 11488727: 11488727
10 EPOR NM_000121.3(EPOR): c.1460A> G (p.Asn487Ser) single nucleotide variant Likely benign rs62638745 GRCh38 Chromosome 19, 11378051: 11378051
11 EPOR NM_000121.3(EPOR): c.1299_1305delCCAGCTC (p.Gln434Cysfs) deletion Affects rs1555716041 GRCh37 Chromosome 19, 11488882: 11488888
12 EPOR NM_000121.3(EPOR): c.1299_1305delCCAGCTC (p.Gln434Cysfs) deletion Affects rs1555716041 GRCh38 Chromosome 19, 11378206: 11378212
13 EPOR NM_000121.3(EPOR): c.1278C> G (p.Tyr426Ter) single nucleotide variant Affects rs121917831 GRCh37 Chromosome 19, 11488909: 11488909
14 EPOR NM_000121.3(EPOR): c.1278C> G (p.Tyr426Ter) single nucleotide variant Affects rs121917831 GRCh38 Chromosome 19, 11378233: 11378233
15 EPOR EPOR, 5968_5975DUP duplication Affects
16 EGLN1 NM_022051.2(EGLN1): c.380G> C (p.Cys127Ser) single nucleotide variant Benign rs12097901 GRCh37 Chromosome 1, 231557255: 231557255
17 EGLN1 NM_022051.2(EGLN1): c.380G> C (p.Cys127Ser) single nucleotide variant Benign rs12097901 GRCh38 Chromosome 1, 231421509: 231421509
18 EGLN1 NM_022051.2(EGLN1): c.12C> G (p.Asp4Glu) single nucleotide variant Benign/Likely benign rs186996510 GRCh37 Chromosome 1, 231557623: 231557623
19 EGLN1 NM_022051.2(EGLN1): c.12C> G (p.Asp4Glu) single nucleotide variant Benign/Likely benign rs186996510 GRCh38 Chromosome 1, 231421877: 231421877
20 EGLN1 NM_022051.2(EGLN1): c.471G> C (p.Gln157His) single nucleotide variant Benign/Likely benign rs61750991 GRCh37 Chromosome 1, 231557164: 231557164
21 EGLN1 NM_022051.2(EGLN1): c.471G> C (p.Gln157His) single nucleotide variant Benign/Likely benign rs61750991 GRCh38 Chromosome 1, 231421418: 231421418
22 EPOR NM_000121.3(EPOR): c.1462C> T (p.Pro488Ser) single nucleotide variant Likely benign rs142094773 GRCh38 Chromosome 19, 11378049: 11378049
23 EPOR NM_000121.3(EPOR): c.1462C> T (p.Pro488Ser) single nucleotide variant Likely benign rs142094773 GRCh37 Chromosome 19, 11488725: 11488725
24 EPOR NM_000121.3(EPOR): c.1316G> A (p.Trp439Ter) single nucleotide variant Pathogenic rs121917830 GRCh38 Chromosome 19, 11378195: 11378195
25 EPOR NM_000121.3(EPOR): c.1316G> A (p.Trp439Ter) single nucleotide variant Pathogenic rs121917830 GRCh37 Chromosome 19, 11488871: 11488871
26 EPOR NM_000121.3(EPOR): c.1310G> A (p.Arg437His) single nucleotide variant Likely benign rs62638744 GRCh38 Chromosome 19, 11378201: 11378201
27 EPOR NM_000121.3(EPOR): c.1310G> A (p.Arg437His) single nucleotide variant Likely benign rs62638744 GRCh37 Chromosome 19, 11488877: 11488877
28 EGLN1 NM_022051.2(EGLN1): c.-2369C> T single nucleotide variant Likely benign rs149120358 GRCh38 Chromosome 1, 231424257: 231424257
29 EGLN1 NM_022051.2(EGLN1): c.-2369C> T single nucleotide variant Likely benign rs149120358 GRCh37 Chromosome 1, 231560003: 231560003
30 EGLN1 NM_022051.2(EGLN1): c.-2448A> C single nucleotide variant Benign rs114449367 GRCh38 Chromosome 1, 231424336: 231424336
31 EGLN1 NM_022051.2(EGLN1): c.-2448A> C single nucleotide variant Benign rs114449367 GRCh37 Chromosome 1, 231560082: 231560082
32 EGLN1 NM_022051.2(EGLN1): c.-2599T> C single nucleotide variant Benign rs1361384 GRCh38 Chromosome 1, 231424487: 231424487
33 EGLN1 NM_022051.2(EGLN1): c.-2599T> C single nucleotide variant Benign rs1361384 GRCh37 Chromosome 1, 231560233: 231560233
34 EGLN1 NM_022051.2(EGLN1): c.-2621G> C single nucleotide variant Uncertain significance rs886046131 GRCh38 Chromosome 1, 231424509: 231424509
35 EGLN1 NM_022051.2(EGLN1): c.-2621G> C single nucleotide variant Uncertain significance rs886046131 GRCh37 Chromosome 1, 231560255: 231560255
36 EGLN1 NM_022051.2(EGLN1): c.-2744T> C single nucleotide variant Likely benign rs531866773 GRCh38 Chromosome 1, 231424632: 231424632
37 EGLN1 NM_022051.2(EGLN1): c.-2744T> C single nucleotide variant Likely benign rs531866773 GRCh37 Chromosome 1, 231560378: 231560378
38 EGLN1 NM_022051.2(EGLN1): c.-2762C> T single nucleotide variant Uncertain significance rs886046133 GRCh38 Chromosome 1, 231424650: 231424650
39 EGLN1 NM_022051.2(EGLN1): c.-2762C> T single nucleotide variant Uncertain significance rs886046133 GRCh37 Chromosome 1, 231560396: 231560396
40 EGLN1 NM_022051.2(EGLN1): c.*1236_*1237insTG insertion Likely benign rs564384828 GRCh38 Chromosome 1, 231365174: 231365175
41 EGLN1 NM_022051.2(EGLN1): c.*2577G> C single nucleotide variant Uncertain significance rs886046095 GRCh38 Chromosome 1, 231363834: 231363834
42 EGLN1 NM_022051.2(EGLN1): c.*2577G> C single nucleotide variant Uncertain significance rs886046095 GRCh37 Chromosome 1, 231499580: 231499580
43 EGLN1 NM_022051.2(EGLN1): c.*2096T> C single nucleotide variant Likely benign rs141735901 GRCh38 Chromosome 1, 231364315: 231364315
44 EGLN1 NM_022051.2(EGLN1): c.*2096T> C single nucleotide variant Likely benign rs141735901 GRCh37 Chromosome 1, 231500061: 231500061
45 EGLN1 NM_022051.2(EGLN1): c.*1911C> T single nucleotide variant Uncertain significance rs886046097 GRCh38 Chromosome 1, 231364500: 231364500
46 EGLN1 NM_022051.2(EGLN1): c.*1911C> T single nucleotide variant Uncertain significance rs886046097 GRCh37 Chromosome 1, 231500246: 231500246
47 EGLN1 NM_022051.2(EGLN1): c.*1880A> T single nucleotide variant Benign rs13239 GRCh38 Chromosome 1, 231364531: 231364531
48 EGLN1 NM_022051.2(EGLN1): c.*1880A> T single nucleotide variant Benign rs13239 GRCh37 Chromosome 1, 231500277: 231500277
49 EGLN1 NM_022051.2(EGLN1): c.*1487C> T single nucleotide variant Uncertain significance rs574739784 GRCh38 Chromosome 1, 231364924: 231364924
50 EGLN1 NM_022051.2(EGLN1): c.*1487C> T single nucleotide variant Uncertain significance rs574739784 GRCh37 Chromosome 1, 231500670: 231500670

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 106)
# 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
13.69 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 IL3 JAK2 PIK3R1 PIK3R2 STAT1 STAT5A
7
Show member pathways
13.38 JAK2 PIK3R1 PIK3R2 STAT1 STAT5A STAT5B
8
Show member pathways
13.31 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
13.09 IL3 JAK2 PIK3R1 PIK3R2 STAT1 THPO
12
Show member pathways
13.05 EPO EPOR IL3 JAK2 PIK3R1 PIK3R2
13
Show member pathways
13.01 JAK2 PIK3R1 PIK3R2 STAT1 STAT5A STAT5B
14
Show member pathways
12.97 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
12.83 EPO EPOR JAK2 PIK3R1 PIK3R2 STAT5A
19
Show member pathways
12.8 JAK2 PIK3R1 PIK3R2 STAT1 STAT5A STAT5B
20
Show member pathways
12.74 JAK2 PIK3R1 PIK3R2 STAT5A STAT5B
21
Show member pathways
12.7 IL3 PIK3R1 PIK3R2 THPO
22 12.7 EPO EPOR IL3 JAK2 PIK3R1 PIK3R2
23
Show member pathways
12.67 PIK3R1 PIK3R2 STAT5A STAT5B
24
Show member pathways
12.66 PIK3R1 PIK3R2 STAT1 STAT5A STAT5B
25
Show member pathways
12.66 JAK2 PIK3R1 PIK3R2 STAT1 STAT5A STAT5B
26
Show member pathways
12.65 JAK2 PIK3R1 PIK3R2 STAT1 STAT5A STAT5B
27 12.63 IL3 JAK2 STAT1 STAT5A STAT5B
28
Show member pathways
12.6 EPN1 JAK2 PIK3R1 PIK3R2
29
Show member pathways
12.6 JAK2 STAT1 STAT5A STAT5B
30
Show member pathways
12.55 JAK2 PIK3R1 PIK3R2 STAT1 STAT5A STAT5B
31
Show member pathways
12.46 EPOR IL3 PIK3R1 PIK3R2 STAT5A THPO
32
Show member pathways
12.44 JAK2 PIK3R1 PIK3R2 STAT1 STAT5A STAT5B
33 12.39 PIK3R1 PIK3R2 STAT5A STAT5B
34
Show member pathways
12.35 JAK2 PIK3R1 PIK3R2 STAT1
35 12.35 PIK3R1 PIK3R2 STAT5A STAT5B
36
Show member pathways
12.34 JAK2 PIK3R1 PIK3R2 STAT1 STAT5B
37
Show member pathways
12.33 JAK2 PIK3R1 PIK3R2 STAT1 STAT5A STAT5B
38
Show member pathways
12.32 EPO EPOR IL3 JAK2 PIK3R1 PIK3R2
39
Show member pathways
12.28 JAK2 STAT1 STAT5A STAT5B
40
Show member pathways
12.28 IL3 JAK2 PIK3R1 PIK3R2 STAT1 STAT5A
41
Show member pathways
12.23 PIK3R1 STAT1 STAT5A STAT5B
42
Show member pathways
12.21 IL3 JAK2 PIK3R1 PIK3R2
43
Show member pathways
12.2 PIK3R1 PIK3R2 STAT1
44 12.17 PIK3R1 PIK3R2 STAT1
45
Show member pathways
12.15 IL3 JAK2 PIK3R1 PIK3R2 STAT1 THPO
46 12.15 JAK2 PIK3R1 PIK3R2 STAT1 STAT5A STAT5B
47
Show member pathways
12.14 JAK2 STAT1 STAT5A STAT5B
48
Show member pathways
12.13 PIK3R1 PIK3R2 STAT1
49
Show member pathways
12.13 JAK2 PIK3R1 PIK3R2 STAT1
50 12.13 EPN1 JAK2 PIK3R1 PIK3R2 STAT1 STAT5A

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 26)
# 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 9.79 PIK3R1 PIK3R2 THPO
4 peptidyl-tyrosine phosphorylation GO:0018108 9.71 IL3 JAK2 STAT5A STAT5B
5 cellular response to insulin stimulus GO:0032869 9.67 PIK3R1 PIK3R2 STAT1
6 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.65 EPO IL3 JAK2
7 interleukin-7-mediated signaling pathway GO:0038111 9.63 STAT5A STAT5B
8 regulation of multicellular organism growth GO:0040014 9.62 STAT5A STAT5B
9 positive regulation of activated T cell proliferation GO:0042104 9.62 EPO STAT5B
10 cellular glucose homeostasis GO:0001678 9.61 PIK3R1 PIK3R2
11 regulation of phosphatidylinositol 3-kinase activity GO:0043551 9.6 PIK3R1 PIK3R2
12 embryonic hemopoiesis GO:0035162 9.59 IL3 SH2B3
13 interleukin-6-mediated signaling pathway GO:0070102 9.58 JAK2 STAT1
14 positive regulation of nitric-oxide synthase biosynthetic process GO:0051770 9.58 JAK2 STAT1
15 interleukin-15-mediated signaling pathway GO:0035723 9.57 STAT5A STAT5B
16 regulation of interferon-gamma-mediated signaling pathway GO:0060334 9.56 JAK2 STAT1
17 growth hormone receptor signaling pathway GO:0060396 9.55 JAK2 PIK3R1
18 interleukin-27-mediated signaling pathway GO:0070106 9.54 JAK2 STAT1
19 interleukin-2-mediated signaling pathway GO:0038110 9.52 STAT5A STAT5B
20 interleukin-35-mediated signaling pathway GO:0070757 9.51 JAK2 STAT1
21 JAK-STAT cascade involved in growth hormone signaling pathway GO:0060397 9.5 JAK2 STAT5A STAT5B
22 taurine metabolic process GO:0019530 9.46 STAT5A STAT5B
23 erythropoietin-mediated signaling pathway GO:0038162 9.43 EPO EPOR
24 interleukin-9-mediated signaling pathway GO:0038113 9.33 STAT1 STAT5A STAT5B
25 JAK-STAT cascade GO:0007259 9.26 JAK2 STAT1 STAT5A STAT5B
26 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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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