ECYT2
MCID: ERY071
MIFTS: 55

Erythrocytosis, Familial, 2, Autosomal Recessive (ECYT2)

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

Aliases & Classifications for Erythrocytosis, Familial, 2, Autosomal Recessive

MalaCards integrated aliases for Erythrocytosis, Familial, 2, Autosomal Recessive:

Name: Erythrocytosis, Familial, 2, Autosomal Recessive 56
Erythrocytosis, Familial, 2 56 73 29 13 6
Ecyt2 56 12 73
Autosomal Recessive Benign Erythrocytosis 12 73
Familial Erythrocytosis 2 12 15
Chuvash Polycythemia 12 58
Von Hippel-Lindau-Dependent Polycythemia 58
Erythrocytosis, Familial, Type 2 39
Polycythemia, Vhl-Dependent 56
Vhl-Dependent Polycythemia 73
Chuvash Type Polycythemia 12
Polycythemia Chuvash Type 73
Chuvash Erythromatosis 12
Chuvash Erythrocytosis 58

Characteristics:

Orphanet epidemiological data:

58
chuvash erythrocytosis
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM:

56
Miscellaneous:
fatigue
mean age at diagnosis 16 years (range 6 to 22)
see also erythrocytosis 1 (ecyt1, )

Inheritance:
autosomal recessive


HPO:

31
erythrocytosis, familial, 2, autosomal recessive:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare haematological diseases


External Ids:

Disease Ontology 12 DOID:0060474
OMIM 56 263400
OMIM Phenotypic Series 56 PS133100
MeSH 43 D011086
ICD10 32 D75.1
ICD10 via Orphanet 33 D75.1
Orphanet 58 ORPHA238557
MedGen 41 C1837915

Summaries for Erythrocytosis, Familial, 2, Autosomal Recessive

OMIM : 56 Familial erythrocytosis-2 (ECYT2) is an autosomal recessive disorder characterized by increased red blood cell mass, increased serum levels of erythropoietin (EPO; 133170), and normal oxygen affinity. Patients with ECYT2 carry a high risk for peripheral thrombosis and cerebrovascular events (Cario, 2005). Familial erythrocytosis-2 has features of both primary and secondary erythrocytosis. In addition to increased circulating levels of EPO, consistent with a secondary, extrinsic process, erythroid progenitors may be hypersensitive to EPO, consistent with a primary, intrinsic process (Prchal, 2005). For a general phenotypic description and a discussion of genetic heterogeneity of familial erythrocytosis, see ECYT1 (133100). (263400)

MalaCards based summary : Erythrocytosis, Familial, 2, Autosomal Recessive, also known as erythrocytosis, familial, 2, is related to anemia, x-linked, with or without neutropenia and/or platelet abnormalities and iron metabolism disease, and has symptoms including fatigue and headache. An important gene associated with Erythrocytosis, Familial, 2, Autosomal Recessive is VHL (Von Hippel-Lindau Tumor Suppressor), and among its related pathways/superpathways are Regulation of activated PAK-2p34 by proteasome mediated degradation and Cellular Senescence (REACTOME). The drugs Digoxin and Cardiotonic Agents have been mentioned in the context of this disorder. Affiliated tissues include endothelial and testes, and related phenotypes are fatigue and varicose veins

Disease Ontology : 12 A primary polycythemia that has material basis in homozygous or compound heterozygous mutation in the VHL gene (608537) on chromosome 3p25.

UniProtKB/Swiss-Prot : 73 Erythrocytosis, familial, 2: An autosomal recessive disorder characterized by an increase in serum red blood cell mass, hypersensitivity of erythroid progenitors to erythropoietin, increased erythropoietin serum levels, and normal oxygen affinity. Patients with ECYT2 carry a high risk for peripheral thrombosis and cerebrovascular events.

Related Diseases for Erythrocytosis, Familial, 2, Autosomal Recessive

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, 2, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 65)
# Related Disease Score Top Affiliating Genes
1 anemia, x-linked, with or without neutropenia and/or platelet abnormalities 30.1 EPOR EPO
2 iron metabolism disease 30.0 EPO CYBRD1 ACO1
3 von hippel-lindau syndrome 29.8 VHL HIF1A ELOC ELOB
4 hemangioblastoma 29.8 VHL HIF1A EPOR EPO EPAS1
5 polycythemia 29.4 VHL HIF1A EPOR EPO EPAS1 EGLN3
6 deficiency anemia 29.3 HIF1A EPOR EPO CYBRD1 ACO1
7 renal cell carcinoma, nonpapillary 28.6 VHL HIF1A EPAS1 ELOC ELOB EGLN3
8 pheochromocytoma 28.0 VHL HIF1A EPOR EPO EPAS1 ELOB
9 fumarate hydratase deficiency 10.3 VHL HIF1A
10 varicose veins 10.3
11 thrombosis 10.3
12 hemangioma 10.3
13 progressive myoclonus epilepsy 9 10.3 EPOR EPO
14 erythrocytosis, familial, 3 10.3 EPOR EGLN1
15 inflammatory bowel disease 27 10.3 HIF1A EPO
16 anemia of prematurity 10.3 EPOR EPO
17 chronic mountain sickness 10.2 EPO EGLN3
18 erythroleukemia, familial 10.2 EPOR EPO
19 neonatal anemia 10.2 EPOR EPO
20 sporadic pheochromocytoma/secreting paraganglioma 10.2 VHL EPAS1
21 acute mountain sickness 10.2 VHL HIF1A EGLN1
22 lumbosacral lipoma 10.2 HIF1A EPOR
23 oligohydramnios 10.2
24 thrombophilia due to thrombin defect 10.1
25 tumor predisposition syndrome 10.1
26 pulmonary hypertension 10.1
27 autosomal recessive disease 10.1
28 thrombophilia 10.1
29 tricuspid valve insufficiency 10.1
30 hypoglycemia 10.1
31 cytokine deficiency 10.1
32 splenomegaly 10.1
33 pheochromocytoma-paraganglioma 10.1 VHL EGLN2 EGLN1
34 duodenal somatostatinoma 10.1 EPAS1 EGLN1
35 erythrocytosis, familial, 8 10.1 EPOR EIF5B EGLN1
36 parathyroid gland disease 10.1 EPO EGLN2 EGLN1
37 capillary hemangioma 10.1 VHL HIF1A
38 pure red-cell aplasia 10.1 EPOR EPO
39 autosomal dominant secondary polycythemia 10.0 EPO EPAS1 EGLN1
40 plethora of newborn 10.0 EPO EPAS1 EGLN1
41 persistent generalized lymphadenopathy 10.0 EPAS1 EGLN1
42 erythrocytosis, familial, 1 10.0 VHL EPOR EPO EGLN1
43 leiomyoma cutis 9.9 ELOC ELOB
44 dermis tumor 9.9 ELOC ELOB
45 pulmonary edema 9.9 HIF1A EPO EPAS1
46 familial renal papillary carcinoma 9.9 ELOC ELOB
47 renal cell carcinoma, papillary, 1 9.9 VHL HIF1A ELOC
48 hemosiderosis 9.8 EPO CYBRD1 ACO1
49 hemochromatosis, type 4 9.8 CYBRD1 ACO1
50 beta-thalassemia 9.8 EPOR EPO ACO1

Graphical network of the top 20 diseases related to Erythrocytosis, Familial, 2, Autosomal Recessive:



Diseases related to Erythrocytosis, Familial, 2, Autosomal Recessive

Symptoms & Phenotypes for Erythrocytosis, Familial, 2, Autosomal Recessive

Human phenotypes related to Erythrocytosis, Familial, 2, Autosomal Recessive:

31 (show all 12)
# Description HPO Frequency HPO Source Accession
1 fatigue 31 HP:0012378
2 varicose veins 31 HP:0002619
3 stroke 31 HP:0001297
4 hemangioma 31 HP:0001028
5 headache 31 HP:0002315
6 cerebral hemorrhage 31 HP:0001342
7 hypotension 31 HP:0002615
8 increased hematocrit 31 HP:0001899
9 plethora 31 HP:0001050
10 increased red blood cell mass 31 HP:0001898
11 increased hemoglobin 31 HP:0001900
12 peripheral thrombosis 31 HP:0002641

Symptoms via clinical synopsis from OMIM:

56
Cardiovascular Vascular:
varicose veins
hypotension
peripheral thrombosis
vascular abnormalities
vertebral hemangiomas
more
Hematology:
increased hematocrit
increased red blood cell mass
increased hemoglobin
erythrocytosis

Laboratory Abnormalities:
increased serum erythropoietin (epo, )
increased serum vascular endothelial growth factor (vegf, )
increased serum plasminogen activator inhibitor-1 (pai1, )
normal leukocyte and platelet counts

Neurologic Central Nervous System:
headache
cerebral hemorrhage
cerebral vascular events

Skin Nails Hair Skin:
plethora

Clinical features from OMIM:

263400

UMLS symptoms related to Erythrocytosis, Familial, 2, Autosomal Recessive:


fatigue, headache

GenomeRNAi Phenotypes related to Erythrocytosis, Familial, 2, Autosomal Recessive according to GeneCards Suite gene sharing:

26 (show all 16)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-130 9.77 ELOB
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-140 9.77 EIF5B
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-144 9.77 VHL
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-159 9.77 VHL
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-163 9.77 ELOB
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-168 9.77 HIF1A
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-181 9.77 EIF5B
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-200 9.77 HIF1A
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-207 9.77 VHL
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-42 9.77 EIF5B
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-43 9.77 ELOB
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-73 9.77 EIF5B
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-79 9.77 HIF1A
14 Increased Nanog expression GR00371-A-1 9.17 EIF5B ELOB
15 Increased Nanog expression GR00371-A-2 9.17 VHL
16 Increased Nanog expression GR00371-A-5 9.17 ARNT EIF5B ELOB VHL

MGI Mouse Phenotypes related to Erythrocytosis, Familial, 2, Autosomal Recessive:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.18 ARNT CYBRD1 EGLN1 EGLN2 EGLN3 EPAS1
2 homeostasis/metabolism MP:0005376 10.11 ACO1 ARNT CYBRD1 EGLN1 EGLN2 EGLN3
3 embryo MP:0005380 10.09 ARNT EGLN1 EGLN2 EGLN3 EPAS1 EPO
4 hematopoietic system MP:0005397 10.06 ARNT EGLN1 EGLN2 EGLN3 EPAS1 EPO
5 immune system MP:0005387 9.97 ARNT EGLN1 EGLN2 EGLN3 EPAS1 EPO
6 craniofacial MP:0005382 9.93 ARNT EGLN1 EGLN2 EGLN3 HIF1A VHL
7 liver/biliary system MP:0005370 9.85 ARNT CYBRD1 EGLN1 EGLN2 EGLN3 EPAS1
8 integument MP:0010771 9.8 ARNT EGLN1 EGLN2 EGLN3 EPO HIF1A
9 muscle MP:0005369 9.5 EGLN1 EGLN2 EGLN3 EPAS1 EPO HIF1A
10 normal MP:0002873 9.17 ACO1 ARNT EGLN3 EPO EPOR HIF1A

Drugs & Therapeutics for Erythrocytosis, Familial, 2, Autosomal Recessive

Drugs for Erythrocytosis, Familial, 2, Autosomal Recessive (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 Cardiotonic Agents Phase 1
3 Anti-Arrhythmia 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 Erythrocytosis Due to Up-Regulated Hypoxia Sensing Not yet recruiting NCT03433833 Phase 1 Digoxin
2 Pulmonary Hypertension and the Hypoxic Response in SCD Completed NCT00495638
3 Ruxolitinib for Chuvash Polycythemia No longer available NCT01730755 Ruxolitinib

Search NIH Clinical Center for Erythrocytosis, Familial, 2, Autosomal Recessive

Genetic Tests for Erythrocytosis, Familial, 2, Autosomal Recessive

Genetic tests related to Erythrocytosis, Familial, 2, Autosomal Recessive:

# Genetic test Affiliating Genes
1 Erythrocytosis, Familial, 2 29 VHL

Anatomical Context for Erythrocytosis, Familial, 2, Autosomal Recessive

MalaCards organs/tissues related to Erythrocytosis, Familial, 2, Autosomal Recessive:

40
Endothelial, Testes

Publications for Erythrocytosis, Familial, 2, Autosomal Recessive

Articles related to Erythrocytosis, Familial, 2, Autosomal Recessive:

(show top 50) (show all 73)
# Title Authors PMID Year
1
Identification of a new VHL exon and complex splicing alterations in familial erythrocytosis or von Hippel-Lindau disease. 6 56 61
29891534 2018
2
The homozygous VHL(D126N) missense mutation is associated with dramatically elevated erythropoietin levels, consequent polycythemia, and early onset severe pulmonary hypertension. 61 6 56
24729484 2014
3
Novel homozygous VHL mutation in exon 2 is associated with congenital polycythemia but not with cancer. 61 56 6
23538339 2013
4
The phenotype of polycythemia due to Croatian homozygous VHL (571C>G:H191D) mutation is different from that of Chuvash polycythemia (VHL 598C>T:R200W). 61 6 56
23403324 2013
5
Loss of JAK2 regulation via a heterodimeric VHL-SOCS1 E3 ubiquitin ligase underlies Chuvash polycythemia. 61 6 56
21685897 2011
6
Von Hippel-Lindau-dependent polycythemia is endemic on the island of Ischia: identification of a novel cluster. 61 6 56
16210343 2006
7
Mutations in the von Hippel-Lindau (VHL) tumor suppressor gene and VHL-haplotype analysis in patients with presumable congenital erythrocytosis. 61 56 6
15642664 2005
8
Congenital disorder of oxygen sensing: association of the homozygous Chuvash polycythemia VHL mutation with thrombosis and vascular abnormalities but not tumors. 61 6 56
14726398 2004
9
The worldwide distribution of the VHL 598C>T mutation indicates a single founding event. 61 56 6
14604959 2004
10
Mutations of von Hippel-Lindau tumor-suppressor gene and congenital polycythemia. 56 6 61
12844285 2003
11
Disruption of oxygen homeostasis underlies congenital Chuvash polycythemia. 61 6 56
12415268 2002
12
Endemic polycythemia in Russia: mutation in the VHL gene. 56 6 61
11987242 2002
13
Identification and in silico analysis of novel von Hippel-Lindau (VHL) gene variants from a large population. 56 6
21463266 2011
14
Dysregulation of the HIF pathway due to VHL mutation causing severe erythrocytosis and pulmonary arterial hypertension. 56 6
21454469 2011
15
Chuvash-type congenital polycythemia in 4 families of Asian and Western European ancestry. 56 6
12702509 2003
16
Localization of the gene responsible for familial benign polycythemia to chromosome 11q23. 56 6
10364675 1999
17
Effects of Germline VHL Deficiency on Growth, Metabolism, and Mitochondria. 56 61
32101665 2020
18
von Hippel-Lindau mutation in mice recapitulates Chuvash polycythemia via hypoxia-inducible factor-2alpha signaling and splenic erythropoiesis. 61 56
17992257 2007
19
Polycythemia vera and other primary polycythemias. 61 56
15725900 2005
20
Mutations in the VHL gene in sporadic apparently congenital polycythemia. 61 6
12393546 2003
21
Congenital polycythemia in Chuvashia. 56 61
9058738 1997
22
Clinical utility gene card for: familial erythrocytosis. 6
22274579 2012
23
Low frequency of VHL gene mutations in young individuals with polycythemia and high serum erythropoietin. 6
15921386 2005
24
Childhood polycythemias/erythrocytoses: classification, diagnosis, clinical presentation, and treatment. 56
15599750 2005
25
VHL2C phenotype in a German von Hippel-Lindau family with concurrent VHL germline mutations P81S and L188V. 6
12414898 2002
26
Germ-line mutations in nonsyndromic pheochromocytoma. 6
12000816 2002
27
Software and database for the analysis of mutations in the VHL gene. 6
9399847 1998
28
Germline mutations in the Von Hippel-Lindau disease (VHL) gene in families from North America, Europe, and Japan. 6
8956040 1996
29
Consequences of direct genetic testing for germline mutations in the clinical management of families with multiple endocrine neoplasia, type II. 6
7563486 1995
30
[A cephalometric comparison of maxillary and mandibular incisor teeth position and soft tissue profile]. 6
2101665 1990
31
Congenital erythrocytosis: a new form associated with an erythropoietin-dependent mechanism. 56
7378290 1980
32
Erythropoiesis in familial erythrocytosis. 56
850518 1977
33
Two cases of familial erythrocytosis with increased erythropoietin activity in plasma and urine. 56
4746102 1973
34
Recessive familial erythrocytosis: aspects of marrow regulation in two families. 56
4694081 1973
35
Femilial erythrocytosis. A report of two cases, and a review. 56
4968783 1968
36
Concurrent heterozygous Von-Hippel-Lindau and transmembrane-protein-127 gene mutation causing an erythropoietin-secreting pheochromocytoma in a normotensive patient with severe erythrocytosis. 61
31568062 2020
37
Genetic basis of unexplained erythrocytosis in Indian patients. 61
31132167 2019
38
Translational repression of HIF2α expression in mice with Chuvash polycythemia reverses polycythemia. 61
29480820 2018
39
Prospective study of thrombosis and thrombospondin-1 expression in Chuvash polycythemia. 61
28104701 2017
40
Cardiopulmonary phenotype associated with human PHD2 mutation. 61
28400504 2017
41
The von Hippel-Lindau Chuvash mutation in mice alters cardiac substrate and high-energy phosphate metabolism. 61
27422990 2016
42
Clinical Improvement with JAK2 Inhibition in Chuvash Polycythemia. 61
27518686 2016
43
Genetic polymorphism of APOB is associated with diabetes mellitus in sickle cell disease. 61
26025476 2015
44
Complications in children and adolescents with Chuvash polycythemia. 61
25573974 2015
45
Genetic evidence of a precisely tuned dysregulation in the hypoxia signaling pathway during oncogenesis. 61
25371412 2014
46
Polycythemia and paraganglioma with a novel somatic HIF2A mutation in a male. 61
24819565 2014
47
Hypoxic response contributes to altered gene expression and precapillary pulmonary hypertension in patients with sickle cell disease. 61
24515990 2014
48
The von Hippel-Lindau Chuvash mutation in mice causes carotid-body hyperplasia and enhanced ventilatory sensitivity to hypoxia. 61
24030664 2014
49
Iron deficiency modifies gene expression variation induced by augmented hypoxia sensing. 61
23993337 2014
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)?). 61
23859443 2013

Variations for Erythrocytosis, Familial, 2, Autosomal Recessive

ClinVar genetic disease variations for Erythrocytosis, Familial, 2, Autosomal Recessive:

6 (show top 50) (show all 491) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 VHL NC_000003.12:g.(?_10141635)_(10142187_?)deldeletion Pathogenic 417616 3:10183319-10183871 3:10141635-10142187
2 VHL NC_000003.12:g.(?_10146514)_(10146636_?)deldeletion Pathogenic 417615 3:10188198-10188320 3:10146514-10146636
3 VHL NC_000003.12:g.(?_10141635)_(10153670_?)deldeletion Pathogenic 417800 3:10141635-10153670
4 VHL NM_000551.3(VHL):c.226_227del (p.Phe76fs)deletion Pathogenic 411961 rs1060503552 3:10183757-10183758 3:10142073-10142074
5 VHL NM_198156.3(VHL):c.341-3192dupduplication Pathogenic 411979 rs1553619976 3:10188277-10188278 3:10146593-10146594
6 VHL NM_000551.3(VHL):c.353T>C (p.Leu118Pro)SNV Pathogenic 428807 rs5030830 3:10188210-10188210 3:10146526-10146526
7 VHL NM_000551.3(VHL):c.452T>C (p.Ile151Thr)SNV Pathogenic 428803 rs869025655 3:10188309-10188309 3:10146625-10146625
8 VHL NC_000003.12:g.(?_10064723)_(10149971_?)deldeletion Pathogenic 456559 3:10064723-10149971
9 VHL NM_000551.3(VHL):c.262T>A (p.Trp88Arg)SNV Pathogenic 456577 rs1553619431 3:10183793-10183793 3:10142109-10142109
10 VHL NC_000003.12:g.(?_10146508)_(10149971_?)deldeletion Pathogenic 456563 3:10146508-10149971
11 VHL NM_000551.3(VHL):c.355T>C (p.Phe119Leu)SNV Pathogenic 496059 rs1553619948 3:10188212-10188212 3:10146528-10146528
12 VHL NM_000551.3(VHL):c.262T>C (p.Trp88Arg)SNV Pathogenic 496053 rs1553619431 3:10183793-10183793 3:10142109-10142109
13 VHL NM_000551.3(VHL):c.484T>C (p.Cys162Arg)SNV Pathogenic 496067 rs1553620313 3:10191491-10191491 3:10149807-10149807
14 VHL NM_000551.3(VHL):c.500G>T (p.Arg167Leu)SNV Pathogenic 526685 rs5030821 3:10191507-10191507 3:10149823-10149823
15 VHL NM_000551.3(VHL):c.463+1G>ASNV Pathogenic 526679 rs869025657 3:10188321-10188321 3:10146637-10146637
16 VHL NM_000551.3(VHL):c.245G>T (p.Arg82Leu)SNV Pathogenic 526675 rs794726890 3:10183776-10183776 3:10142092-10142092
17 VHL NM_000551.3(VHL):c.264G>C (p.Trp88Cys)SNV Pathogenic 580847 rs869025622 3:10183795-10183795 3:10142111-10142111
18 VHL NM_000551.3(VHL):c.340G>A (p.Gly114Ser)SNV Pathogenic 583094 rs869025636 3:10183871-10183871 3:10142187-10142187
19 VHL NM_000551.3(VHL):c.472C>G (p.Leu158Val)SNV Pathogenic 567944 rs1559429613 3:10191479-10191479 3:10149795-10149795
20 VHL NM_000551.3(VHL):c.463+2T>CSNV Pathogenic 569414 rs5030814 3:10188322-10188322 3:10146638-10146638
21 VHL NM_000551.3(VHL):c.331A>T (p.Ser111Cys)SNV Pathogenic 565557 rs1559426203 3:10183862-10183862 3:10142178-10142178
22 VHL NM_000551.3(VHL):c.357C>G (p.Phe119Leu)SNV Pathogenic 625240 rs1559428077 3:10188214-10188214 3:10146530-10146530
23 VHL NM_000551.4(VHL):c.222C>A (p.Val74=)SNV Pathogenic 635350 3:10183753-10183753 3:10142069-10142069
24 VHL NM_000551.3(VHL):c.461C>T (p.Pro154Leu)SNV Pathogenic 649525 3:10188318-10188318 3:10146634-10146634
25 VHL NC_000003.12:g.(?_10052377)_(10149975_?)deldeletion Pathogenic 665653 3:10094061-10191659 3:10052377-10149975
26 VHL NC_000003.12:g.(?_10149777)_(10149975_?)deldeletion Pathogenic 651806 3:10191461-10191659 3:10149777-10149975
27 VHL NC_000003.12:g.(?_10141838)_(10149975_?)deldeletion Pathogenic 640445 3:10183522-10191659 3:10141838-10149975
28 VHL NC_000003.12:g.(?_10146504)_(10149975_?)deldeletion Pathogenic 659603 3:10188188-10191659 3:10146504-10149975
29 VHL NC_000003.12:g.(?_10141838)_(10142197_?)deldeletion Pathogenic 656836 3:10183522-10183881 3:10141838-10142197
30 VHL NC_000003.12:g.(?_10146504)_(10146646_?)deldeletion Pathogenic 660147 3:10188188-10188330 3:10146504-10146646
31 VHL NM_000551.3(VHL):c.339_340+5deldeletion Pathogenic 639348 3:10183868-10183874 3:10142184-10142190
32 VHL NM_000551.4(VHL):c.340+770T>CSNV Pathogenic 816685 3:10184641-10184641 3:10142957-10142957
33 VHL NC_000003.12:g.(?_10052377)_(10150035_?)deldeletion Pathogenic 833211 3:10094061-10191719
34 VHL NC_000003.12:g.(?_10072861)_(10150035_?)deldeletion Pathogenic 833032 3:10114545-10191719
35 VHL NC_000003.12:g.(?_10141828)_(10146656_?)deldeletion Pathogenic 830508 3:10183512-10188340
36 VHL NC_000003.12:g.(?_10141848)_(10142197_?)deldeletion Pathogenic 833198 3:10183532-10183881
37 VHL NC_000003.12:g.(?_10141848)_(10143024_?)deldeletion Pathogenic 830486 3:10183532-10184708
38 VHL NC_000003.12:g.(?_10141848)_(10150035_?)deldeletion Pathogenic 830987 3:10183532-10191719
39 VHL NM_000551.4(VHL):c.448_449del (p.Asn150fs)deletion Pathogenic 856153 3:10188305-10188306 3:10146621-10146622
40 VHL NC_000003.12:g.(?_10146504)_(10150035_?)deldeletion Pathogenic 832599 3:10188188-10191719
41 VHL NC_000003.12:g.(?_10149777)_(10150035_?)deldeletion Pathogenic 833062 3:10191461-10191719
42 VHL NM_000551.4(VHL):c.349T>G (p.Trp117Gly)SNV Pathogenic 862346 3:10188206-10188206 3:10146522-10146522
43 VHL NM_000551.3(VHL):c.548C>A (p.Ser183Ter)SNV Pathogenic 2215 rs5030823 3:10191555-10191555 3:10149871-10149871
44 VHL NM_000551.4(VHL):c.481C>T (p.Arg161Ter)SNV Pathogenic 2217 rs5030818 3:10191488-10191488 3:10149804-10149804
45 VHL NM_000551.3(VHL):c.499C>T (p.Arg167Trp)SNV Pathogenic 2218 rs5030820 3:10191506-10191506 3:10149822-10149822
46 VHL NM_000551.3(VHL):c.334T>C (p.Tyr112His)SNV Pathogenic 2222 rs104893824 3:10183865-10183865 3:10142181-10142181
47 VHL NM_000551.3(VHL):c.292T>C (p.Tyr98His)SNV Pathogenic 2223 rs5030809 3:10183823-10183823 3:10142139-10142139
48 VHL NM_000551.3(VHL):c.388G>C (p.Val130Leu)SNV Pathogenic 2229 rs104893830 3:10188245-10188245 3:10146561-10146561
49 VHL NM_198156.3(VHL):c.341-3238G>TSNV Pathogenic 2230 rs104893831 3:10188233-10188233 3:10146549-10146549
50 VHL NM_001354723.2(VHL):c.*125C>GSNV Pathogenic 2235 rs28940301 3:10191578-10191578 3:10149894-10149894

UniProtKB/Swiss-Prot genetic disease variations for Erythrocytosis, Familial, 2, Autosomal Recessive:

73
# Symbol AA change Variation ID SNP ID
1 VHL p.Val130Leu VAR_005733 rs104893830
2 VHL p.Leu188Val VAR_005777 rs5030824
3 VHL p.Leu198Arg VAR_005778
4 VHL p.Arg200Trp VAR_005779 rs28940298
5 VHL p.Asp126Tyr VAR_034994 rs104893831
6 VHL p.His191Asp VAR_034999 rs28940301
7 VHL p.Pro192Ser VAR_035000 rs28940300

Expression for Erythrocytosis, Familial, 2, Autosomal Recessive

Search GEO for disease gene expression data for Erythrocytosis, Familial, 2, Autosomal Recessive.

Pathways for Erythrocytosis, Familial, 2, Autosomal Recessive

Pathways related to Erythrocytosis, Familial, 2, Autosomal Recessive according to GeneCards Suite gene sharing:

(show all 19)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
14.06 VHL HIF1A EPO EPAS1 ELOC ELOB
2
Show member pathways
13.05 VHL HIF1A EPO EPAS1 ELOC ELOB
3 12.72 VHL HIF1A EPOR EPO EPAS1 ELOC
4
Show member pathways
12.53 VHL HIF1A EPAS1 ELOC ELOB EGLN3
5 12.09 HIF1A EPAS1 EGLN1 ARNT
6 11.88 VHL ELOC ELOB
7
Show member pathways
11.76 VHL HIF1A EPAS1 ARNT
8 11.66 HIF1A EGLN1 ARNT
9 11.64 HIF1A EPO EGLN3 EGLN1 ARNT
10 11.49 VHL HIF1A EPO ELOC ELOB EGLN2
11 11.35 HIF1A EPO EGLN1 ARNT
12
Show member pathways
11.31 HIF1A EPAS1 EGLN3 ARNT
13 11.31 VHL HIF1A EPO ELOC ELOB EGLN3
14 11.14 VHL EPO EPAS1 ELOC ELOB EGLN3
15 11.01 EPOR EPO
16 10.95 HIF1A ARNT
17 10.94 VHL HIF1A ELOC ELOB ARNT
18 10.78 VHL EPAS1
19 10.48 ELOC ELOB

GO Terms for Erythrocytosis, Familial, 2, Autosomal Recessive

Cellular components related to Erythrocytosis, Familial, 2, Autosomal Recessive according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 elongin complex GO:0070449 8.96 ELOC ELOB
2 VCB complex GO:0030891 8.62 VHL ELOB

Biological processes related to Erythrocytosis, Familial, 2, Autosomal Recessive according to GeneCards Suite gene sharing:

(show all 23)
# Name GO ID Score Top Affiliating Genes
1 protein ubiquitination GO:0016567 9.93 VHL HIF1A EPAS1 ELOC ELOB
2 transcription by RNA polymerase II GO:0006366 9.83 HIF1A EPAS1 ELOC ELOB
3 post-translational protein modification GO:0043687 9.83 VHL HIF1A EPAS1 ELOC ELOB
4 cellular iron ion homeostasis GO:0006879 9.67 HIF1A EGLN1 CYBRD1 ACO1
5 cellular response to hypoxia GO:0071456 9.65 HIF1A EPAS1 EGLN3 EGLN2 EGLN1
6 positive regulation of erythrocyte differentiation GO:0045648 9.61 HIF1A ARNT
7 positive regulation of Ras protein signal transduction GO:0046579 9.61 EPOR EPO
8 translational elongation GO:0006414 9.6 ELOC ELOB
9 positive regulation of vascular endothelial growth factor production GO:0010575 9.59 HIF1A ARNT
10 positive regulation of glycolytic process GO:0045821 9.58 HIF1A ARNT
11 regulation of neuron apoptotic process GO:0043523 9.58 EGLN3 EGLN2
12 embryonic placenta development GO:0001892 9.58 HIF1A EPAS1 ARNT
13 positive regulation of vascular endothelial growth factor receptor signaling pathway GO:0030949 9.57 HIF1A ARNT
14 response to iron ion GO:0010039 9.56 HIF1A CYBRD1
15 mRNA transcription by RNA polymerase II GO:0042789 9.55 HIF1A ARNT
16 oxygen homeostasis GO:0032364 9.51 HIF1A EGLN1
17 peptidyl-proline hydroxylation to 4-hydroxy-L-proline GO:0018401 9.5 EGLN3 EGLN2 EGLN1
18 response to hypoxia GO:0001666 9.5 HIF1A EPO EPAS1 EGLN3 EGLN2 EGLN1
19 hemoglobin biosynthetic process GO:0042541 9.49 HIF1A EPO
20 erythropoietin-mediated signaling pathway GO:0038162 9.48 EPOR EPO
21 positive regulation of hormone biosynthetic process GO:0046886 9.46 HIF1A ARNT
22 regulation of transcription from RNA polymerase II promoter in response to oxidative stress GO:0043619 9.33 HIF1A EPAS1 ARNT
23 regulation of transcription from RNA polymerase II promoter in response to hypoxia GO:0061418 9.32 VHL HIF1A EPO EPAS1 ELOC ELOB

Molecular functions related to Erythrocytosis, Familial, 2, Autosomal Recessive according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.21 VHL HIF1A EPOR EPO EPAS1 ELOC
2 transcription factor binding GO:0008134 9.76 VHL HIF1A EPAS1 ARNT
3 protein dimerization activity GO:0046983 9.7 HIF1A EPAS1 ARNT
4 iron ion binding GO:0005506 9.65 EGLN3 EGLN2 EGLN1
5 dioxygenase activity GO:0051213 9.61 EGLN3 EGLN2 EGLN1
6 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen GO:0016705 9.58 EGLN3 EGLN2 EGLN1
7 histone acetyltransferase binding GO:0035035 9.51 HIF1A EPAS1
8 ferrous iron binding GO:0008198 9.5 EGLN3 EGLN2 EGLN1
9 translation elongation factor activity GO:0003746 9.49 ELOC ELOB
10 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors GO:0016706 9.43 EGLN3 EGLN2 EGLN1
11 L-ascorbic acid binding GO:0031418 9.33 EGLN3 EGLN2 EGLN1
12 peptidyl-proline dioxygenase activity GO:0031543 9.13 EGLN3 EGLN2 EGLN1
13 peptidyl-proline 4-dioxygenase activity GO:0031545 8.8 EGLN3 EGLN2 EGLN1

Sources for Erythrocytosis, Familial, 2, Autosomal Recessive

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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