ECYT4
MCID: ERY032
MIFTS: 16

Erythrocytosis, Familial, 4 (ECYT4)

Categories: Blood diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Erythrocytosis, Familial, 4

MalaCards integrated aliases for Erythrocytosis, Familial, 4:

Name: Erythrocytosis, Familial, 4 57 75 29 13 6 73
Ecyt4 57 75
Erythrocytosis, Familial, Type 4 40
Familial Erythrocytosis 4 12

Characteristics:

HPO:

32
erythrocytosis, familial, 4:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 611783
Disease Ontology 12 DOID:0080339
MedGen 42 C2673187
MeSH 44 D011086
SNOMED-CT via HPO 69 263681008 131141003
UMLS 73 C2673187

Summaries for Erythrocytosis, Familial, 4

UniProtKB/Swiss-Prot : 75 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

OMIM : 57 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

Clinical features from OMIM:

611783

Human phenotypes related to Erythrocytosis, Familial, 4:

32
# Description HPO Frequency HPO Source Accession
1 increased hematocrit 32 HP:0001899
2 increased hemoglobin 32 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 29 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:

75
# 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 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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