MCID: FML121
MIFTS: 26

Familial Erythrocytosis 4 malady

Genetic diseases, Blood diseases, Rare diseases categories
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Summaries for Familial Erythrocytosis 4

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47OMIM, 33MalaCards
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MalaCards: Familial Erythrocytosis 4, is also known as erythrocytosis, familial, 4 An important gene associated with Familial Erythrocytosis 4 is EPAS1 (endothelial PAS domain protein 1), and among its related pathways are Cellular Senescence and Pathways in cancer. The compounds oxygen and vegf have been mentioned in the context of this disorder. Related mouse phenotypes are liver/biliary system and embryogenesis.

Description from OMIM:47 611783,609820

Aliases & Classifications for Familial Erythrocytosis 4

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20GeneTests, 22GTR, 47OMIM, 49Orphanet, 62UMLS, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Blood diseases


Characteristics (Orphanet epidemiological data):

49
autosomal dominant secondary erythrocytosis:
Inheritance: Autosomal dominant; Age of onset: Neonatal/infancy


Aliases & Descriptions:

familial erythrocytosis 4 20 22
erythrocytosis, familial, 4 47 62
autosomal dominant secondary erythrocytosis 49
autosomal dominant secondary polycythemia 49


External Ids:

ICD10 via Orphanet26 D75.1

Related Diseases for Familial Erythrocytosis 4

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Symptoms for Familial Erythrocytosis 4

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47OMIM
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Clinical features from OMIM:

611783,609820

Drugs & Therapeutics for Familial Erythrocytosis 4

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Familial Erythrocytosis 4

Search NIH Clinical Center for Familial Erythrocytosis 4

Genetic Tests for Familial Erythrocytosis 4

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20GeneTests, 22GTR
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Genetic tests related to Familial Erythrocytosis 4:

id Genetic test Affiliating Genes
1 Familial Erythrocytosis 420 EPAS1
2 Erythrocytosis, Familial, 422

Anatomical Context for Familial Erythrocytosis 4

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Animal Models for Familial Erythrocytosis 4 or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Familial Erythrocytosis 4:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053709.1EGLN1, EPAS1
2MP:00053809.1EGLN1, EPAS1
3MP:00053889.0EGLN1, EPAS1
4MP:00053698.8EGLN1, EPAS1

Publications for Familial Erythrocytosis 4

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Variations for Familial Erythrocytosis 4

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Sources:
64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Familial Erythrocytosis 4:

64
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 Familial Erythrocytosis 4:

1
id Gene Name 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 Familial Erythrocytosis 4

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Familial Erythrocytosis 4

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

Pathways for genes affiliated with Familial Erythrocytosis 4

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50PathCards, 55Reactome, 30KEGG, 5Cell Signaling Technology, 38NCBI BioSystems Database
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Compounds for genes affiliated with Familial Erythrocytosis 4

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45Novoseek, 24HMDB
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Compounds related to Familial Erythrocytosis 4 according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1oxygen45 2410.1EGLN1, EPAS1
2vegf458.8EGLN1, EPAS1

GO Terms for genes affiliated with Familial Erythrocytosis 4

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16Gene Ontology
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Biological processes related to Familial Erythrocytosis 4 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1response to hypoxiaGO:0016669.1EGLN1, EPAS1
2regulation of transcription from RNA polymerase II promoter in response to hypoxiaGO:0614189.0EGLN1, EPAS1
3cellular response to hypoxiaGO:0714568.8EGLN1, EPAS1

Products for genes affiliated with Familial Erythrocytosis 4

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  • Antibodies
  • Proteins
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  • Antibodies

Sources for Familial Erythrocytosis 4

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet