ECYT4
MCID: ERY032
MIFTS: 16

Erythrocytosis, Familial, 4 (ECYT4) malady

Categories: Genetic diseases, Blood diseases, Rare diseases

Aliases & Classifications for Erythrocytosis, Familial, 4

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Aliases & Descriptions for Erythrocytosis, Familial, 4:

Name: Erythrocytosis, Familial, 4 52 70 12 68
Familial Erythrocytosis 4 24 27
 
Ecyt4 24 70

Characteristics:

HPO:

64
erythrocytosis, familial, 4:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM52 611783
MedGen37 C2673187
MeSH39 D011086

Summaries for Erythrocytosis, Familial, 4

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UniProtKB/Swiss-Prot:70 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:52 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

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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:

idRelated DiseaseScoreTop Affiliating Genes
1erythrocytosis, somatic10.9

Symptoms & Phenotypes for Erythrocytosis, Familial, 4

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Clinical features from OMIM:

611783

Human phenotypes related to Erythrocytosis, Familial, 4:

 64
id Description HPO Frequency HPO Source Accession
1 increased hematocrit64 HP:0001899
2 increased hemoglobin64 HP:0001900

Drugs & Therapeutics for Erythrocytosis, Familial, 4

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Interventional clinical trials:

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

Genetic Tests for Erythrocytosis, Familial, 4

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Genetic tests related to Erythrocytosis, Familial, 4:

id Genetic test Affiliating Genes
1 Erythrocytosis, Familial, 427
2 Familial Erythrocytosis 424 EPAS1

Anatomical Context for Erythrocytosis, Familial, 4

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Publications for Erythrocytosis, Familial, 4

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Variations for Erythrocytosis, Familial, 4

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

70
id Symbol AA change Variation ID SNP ID
1EPAS1p.Gly537TrpVAR_042443rs137853036
2EPAS1p.Pro534LeuVAR_067358
3EPAS1p.Met535ThrVAR_067359
4EPAS1p.Met535ValVAR_067360rs137853037
5EPAS1p.Gly537ArgVAR_067361rs137853036
6EPAS1p.Phe540LeuVAR_067362

Clinvar genetic disease variations for Erythrocytosis, Familial, 4:

5
id Gene Variation Type Significance SNP ID Assembly Location
1EPAS1NM_ 001430.4(EPAS1): c.1609G> T (p.Gly537Trp)SNVPathogenicrs137853036GRCh37Chr 2, 46607420: 46607420
2EPAS1NM_ 001430.4(EPAS1): c.1609G> A (p.Gly537Arg)SNVPathogenicrs137853036GRCh37Chr 2, 46607420: 46607420
3EPAS1NM_ 001430.4(EPAS1): c.1603A> G (p.Met535Val)SNVPathogenicrs137853037GRCh37Chr 2, 46607414: 46607414

Expression for genes affiliated with Erythrocytosis, Familial, 4

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

Pathways for genes affiliated with Erythrocytosis, Familial, 4

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GO Terms for genes affiliated with Erythrocytosis, Familial, 4

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Sources for Erythrocytosis, Familial, 4

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet