MCID: ERY032
MIFTS: 17

Erythrocytosis, Familial, 4 malady

Categories: Genetic diseases (common), Blood diseases

Aliases & Classifications for Erythrocytosis, Familial, 4

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Aliases & Descriptions for Erythrocytosis, Familial, 4:

Name: Erythrocytosis, Familial, 4 49 11 67 65
Familial Erythrocytosis 4 22 24
 
Ecyt4 22 67

Characteristics:

HPO:

61
erythrocytosis, familial, 4:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 611783
MedGen34 C2673187
MeSH36 D011086
UMLS65 C2673187

Summaries for Erythrocytosis, Familial, 4

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UniProtKB/Swiss-Prot:67 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 hematocritand increased hemoglobin. An important gene associated with Erythrocytosis, Familial, 4 is EPAS1 (Endothelial PAS Domain Protein 1).

OMIM:49 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, somatic10.4

Symptoms for Erythrocytosis, Familial, 4

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Clinical features from OMIM:

611783

HPO human phenotypes related to Erythrocytosis, Familial, 4:

id Description Frequency HPO Source Accession
1 increased hematocrit HP:0001899
2 increased hemoglobin 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 Familial Erythrocytosis 422 EPAS1

Anatomical Context for Erythrocytosis, Familial, 4

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Animal Models for Erythrocytosis, Familial, 4 or affiliated genes

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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:

67
id Symbol AA change Variation ID SNP ID
1EPAS1p.Gly537TrpVAR_042443
2EPAS1p.Pro534LeuVAR_067358
3EPAS1p.Met535ThrVAR_067359
4EPAS1p.Met535ValVAR_067360
5EPAS1p.Gly537ArgVAR_067361
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)single nucleotide variantPathogenicrs137853036GRCh37Chr 2, 46607420: 46607420
2EPAS1NM_001430.4(EPAS1): c.1609G> A (p.Gly537Arg)single nucleotide variantPathogenicrs137853036GRCh37Chr 2, 46607420: 46607420
3EPAS1NM_001430.4(EPAS1): c.1603A> G (p.Met535Val)single nucleotide variantPathogenicrs137853037GRCh37Chr 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
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet