ECYT4
MCID: ERY032
MIFTS: 17

Erythrocytosis, Familial, 4 (ECYT4)

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

Aliases & Classifications for Erythrocytosis, Familial, 4

MalaCards integrated aliases for Erythrocytosis, Familial, 4:

Name: Erythrocytosis, Familial, 4 58 76 30 13 6 74
Ecyt4 58 76
Erythrocytosis, Familial, Type 4 41
Familial Erythrocytosis 4 12

Characteristics:

HPO:

33
erythrocytosis, familial, 4:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0080339
OMIM 58 611783
MeSH 45 D011086
MedGen 43 C2673187
SNOMED-CT via HPO 70 131141003 263681008
UMLS 74 C2673187

Summaries for Erythrocytosis, Familial, 4

UniProtKB/Swiss-Prot : 76 Erythrocytosis, familial, 4: An autosomal dominant disorder characterized by increased serum red blood cell mass, elevated serum hemoglobin and hematocrit, and normal platelet and leukocyte counts.

MalaCards based summary : Erythrocytosis, Familial, 4, is also known as ecyt4. An important gene associated with Erythrocytosis, Familial, 4 is EPAS1 (Endothelial PAS Domain Protein 1). Related phenotypes are increased hematocrit and increased hemoglobin

Disease Ontology : 12 A primary polycythemia that has material basis in autosomal dominant inheritance of gain-of-function mutations in the EPAS1 gene on chromosome 2p21.

OMIM : 58 Familial erythrocytosis-4 is an autosomal dominant disorder characterized by increased serum red blood cell mass and hemoglobin concentration and elevated serum erythropoietin (EPO; 133170). (611783)

Related Diseases for Erythrocytosis, Familial, 4

Symptoms & Phenotypes for Erythrocytosis, Familial, 4

Human phenotypes related to Erythrocytosis, Familial, 4:

33
# Description HPO Frequency HPO Source Accession
1 increased hematocrit 33 HP:0001899
2 increased hemoglobin 33 HP:0001900

Clinical features from OMIM:

611783

Drugs & Therapeutics for Erythrocytosis, Familial, 4

Search Clinical Trials , NIH Clinical Center for Erythrocytosis, Familial, 4

Genetic Tests for Erythrocytosis, Familial, 4

Genetic tests related to Erythrocytosis, Familial, 4:

# Genetic test Affiliating Genes
1 Erythrocytosis, Familial, 4 30 EPAS1

Anatomical Context for Erythrocytosis, Familial, 4

Publications for Erythrocytosis, Familial, 4

Variations for Erythrocytosis, Familial, 4

UniProtKB/Swiss-Prot genetic disease variations for Erythrocytosis, Familial, 4:

76
# Symbol AA change Variation ID SNP ID
1 EPAS1 p.Gly537Trp VAR_042443 rs137853036
2 EPAS1 p.Pro534Leu VAR_067358
3 EPAS1 p.Met535Thr VAR_067359
4 EPAS1 p.Met535Val VAR_067360 rs137853037
5 EPAS1 p.Gly537Arg VAR_067361 rs137853036
6 EPAS1 p.Phe540Leu VAR_067362

ClinVar genetic disease variations for Erythrocytosis, Familial, 4:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 EPAS1 NM_001430.4(EPAS1): c.1609G> T (p.Gly537Trp) single nucleotide variant Pathogenic rs137853036 GRCh37 Chromosome 2, 46607420: 46607420
2 EPAS1 NM_001430.4(EPAS1): c.1609G> T (p.Gly537Trp) single nucleotide variant Pathogenic rs137853036 GRCh38 Chromosome 2, 46380281: 46380281
3 EPAS1 NM_001430.4(EPAS1): c.1609G> A (p.Gly537Arg) single nucleotide variant Pathogenic rs137853036 GRCh37 Chromosome 2, 46607420: 46607420
4 EPAS1 NM_001430.4(EPAS1): c.1609G> A (p.Gly537Arg) single nucleotide variant Pathogenic rs137853036 GRCh38 Chromosome 2, 46380281: 46380281
5 EPAS1 NM_001430.4(EPAS1): c.1603A> G (p.Met535Val) single nucleotide variant Pathogenic rs137853037 GRCh37 Chromosome 2, 46607414: 46607414
6 EPAS1 NM_001430.4(EPAS1): c.1603A> G (p.Met535Val) single nucleotide variant Pathogenic rs137853037 GRCh38 Chromosome 2, 46380275: 46380275

Expression for Erythrocytosis, Familial, 4

Search GEO for disease gene expression data for Erythrocytosis, Familial, 4.

Pathways for Erythrocytosis, Familial, 4

GO Terms for Erythrocytosis, Familial, 4

Sources for Erythrocytosis, Familial, 4

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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