MCID: FML121
MIFTS: 26

Familial Erythrocytosis 4 malady

Genetic diseases, Blood diseases, Rare diseases categories

Summaries for Familial Erythrocytosis 4

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48OMIM, 34MalaCards
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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:48 611783,609820

Aliases & Classifications for Familial Erythrocytosis 4

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Sources:
21GeneTests, 23GTR, 48OMIM, 50Orphanet, 63UMLS, 27ICD10 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):

50
autosomal dominant secondary erythrocytosis:
Inheritance: Autosomal dominant; Age of onset: Neonatal/infancy


Aliases & Descriptions:

familial erythrocytosis 4 21 23
erythrocytosis, familial, 4 48 63
autosomal dominant secondary erythrocytosis 50
autosomal dominant secondary polycythemia 50


External Ids:

ICD10 via Orphanet27 D75.1

Related Diseases for Familial Erythrocytosis 4

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Symptoms for Familial Erythrocytosis 4

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48OMIM
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Clinical features from OMIM:

611783,609820

Drugs & Therapeutics for Familial Erythrocytosis 4

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Familial Erythrocytosis 4

Drug clinical trials:

Search ClinicalTrials for Familial Erythrocytosis 4

Search NIH Clinical Center for Familial Erythrocytosis 4

Search CenterWatch for Familial Erythrocytosis 4

Genetic Tests for Familial Erythrocytosis 4

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21GeneTests, 23GTR
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Genetic tests related to Familial Erythrocytosis 4:

id Genetic test Affiliating Genes
1 Familial Erythrocytosis 421 EPAS1
2 Erythrocytosis, Familial, 423

Anatomical Context for Familial Erythrocytosis 4

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Animal Models for Familial Erythrocytosis 4 or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Familial Erythrocytosis 4:

38
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:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Familial Erythrocytosis 4:

65
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, 16Gene 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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Sources:
51PathCards, 56Reactome, 31KEGG, 5Cell Signaling Technology, 39NCBI BioSystems Database
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Compounds for genes affiliated with Familial Erythrocytosis 4

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46Novoseek, 25HMDB
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Compounds related to Familial Erythrocytosis 4 according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1oxygen46 2510.1EGLN1, EPAS1
2vegf468.8EGLN1, EPAS1

GO Terms for genes affiliated with Familial Erythrocytosis 4

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Sources:
17Gene 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
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet