ECYT4
MCID: ERY032
MIFTS: 16

Erythrocytosis, Familial, 4 (ECYT4) malady

Categories: Genetic diseases, Blood diseases, Rare diseases

Aliases & Classifications for Erythrocytosis, Familial, 4

Aliases & Descriptions for Erythrocytosis, Familial, 4:

Name: Erythrocytosis, Familial, 4 54 66 13 69
Familial Erythrocytosis 4 24 29
Ecyt4 24 66

Characteristics:

HPO:

32
erythrocytosis, familial, 4:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 611783
MedGen 40 C2673187
MeSH 42 D011086

Summaries for Erythrocytosis, Familial, 4

UniProtKB/Swiss-Prot : 66 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, also known as familial erythrocytosis 4, is related to erythrocytosis, somatic, 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 : 54 Familial erythrocytosis-4 is an autosomal dominant disorder characterized by increased serum red blood cell mass and... (611783) more...

Related Diseases for Erythrocytosis, Familial, 4

Diseases in the Erythrocytosis, Familial, 2 family:

Erythrocytosis, Familial, 3 Erythrocytosis, Familial, 4

Diseases related to Erythrocytosis, Familial, 4 via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 erythrocytosis, somatic 10.9

Symptoms & Phenotypes for Erythrocytosis, Familial, 4

Clinical features from OMIM:

611783

Human phenotypes related to Erythrocytosis, Familial, 4:

32
id 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:

id Genetic test Affiliating Genes
1 Erythrocytosis, Familial, 4 29
2 Familial Erythrocytosis 4 24 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:

66
id 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
id 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
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48 NDF-RT
51 NINDS
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54 OMIM
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59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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