MCID: ERY032
MIFTS: 14

Erythrocytosis, Familial, 4

Categories: Genetic diseases, Blood diseases, Rare diseases

Aliases & Classifications for Erythrocytosis, Familial, 4

MalaCards integrated aliases for Erythrocytosis, Familial, 4:

Name: Erythrocytosis, Familial, 4 53 71 28 13 69
Ecyt4 53 71

Characteristics:

HPO:

31
erythrocytosis, familial, 4:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 53 611783
MedGen 39 C2673187
MeSH 41 D011086
SNOMED-CT via HPO 65 263681008 131141003
UMLS 69 C2673187

Summaries for Erythrocytosis, Familial, 4

UniProtKB/Swiss-Prot : 71 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, and has symptoms including increased hematocrit and increased hemoglobin. An important gene associated with Erythrocytosis, Familial, 4 is EPAS1 (Endothelial PAS Domain Protein 1).

OMIM : 53 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

Diseases in the Erythrocytosis, Familial, 1 family:

Erythrocytosis, Familial, 2 Erythrocytosis, Familial, 3
Erythrocytosis, Familial, 4

Symptoms & Phenotypes for Erythrocytosis, Familial, 4

Clinical features from OMIM:

611783

Human phenotypes related to Erythrocytosis, Familial, 4:

31
# Description HPO Frequency HPO Source Accession
1 increased hematocrit 31 HP:0001899
2 increased hemoglobin 31 HP:0001900

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 28 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:

71
# 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> A (p.Gly537Arg) single nucleotide variant Pathogenic rs137853036 GRCh37 Chromosome 2, 46607420: 46607420
3 EPAS1 NM_001430.4(EPAS1): c.1603A> G (p.Met535Val) single nucleotide variant Pathogenic rs137853037 GRCh37 Chromosome 2, 46607414: 46607414

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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....