MCID: FML121
MIFTS: 26

Familial Erythrocytosis 4 malady

Blood diseases, Genetic diseases categories

Summaries for Familial Erythrocytosis 4

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46OMIM, 32MalaCards
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MalaCards: Familial Erythrocytosis 4, also known as erythrocytosis, familial, 4, is related to kidney cancer and hepatocellular carcinoma. An important gene associated with Familial Erythrocytosis 4 is EPAS1 (endothelial PAS domain protein 1), and among its related pathways are Pathways in cancer and Development HGF signaling pathway.

Description from OMIM:46 611783,609820

Aliases & Classifications for Familial Erythrocytosis 4

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Sources:
20GeneTests, 22GTR, 46OMIM, 60UMLS, 48Orphanet, 26ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

48
autosomal dominant secondary erythrocytosis:
Inheritance: Autosomal dominant; Age of onset: Neonatal/infancy


Aliases & Descriptions:

familial erythrocytosis 4 20 22
erythrocytosis, familial, 4 46 60
autosomal dominant secondary erythrocytosis 48
autosomal dominant secondary polycythemia 48


External Ids:

ICD10 via Orphanet26 D75.1

Related Diseases for Familial Erythrocytosis 4

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17GeneCards, 18GeneDecks
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Diseases in the Familial Erythrocytosis 2 family:

Familial Erythrocytosis, 1 Familial Erythrocytosis 3
familial erythrocytosis 4 Erythrocytosis

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

idRelated DiseaseScoreTop Affiliating Genes
1kidney cancer10.0EPAS1
2hepatocellular carcinoma10.0EPAS1, HLF

Clinical Features for Familial Erythrocytosis 4

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46OMIM
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Clinical features from OMIM:

611783,609820

Drugs & Therapeutics for Familial Erythrocytosis 4

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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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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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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Publications for Familial Erythrocytosis 4

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Genetic Variations for Familial Erythrocytosis 4

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Familial Erythrocytosis 4:

62
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

Expression for genes affiliated with Familial Erythrocytosis 4

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1BioGPS, 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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Sources:
29KEGG, 12EMD Millipore, 4Cell Signaling Technology, 37NCBI BioSystems Database, 53Reactome
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Compounds for genes affiliated with Familial Erythrocytosis 4

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GO Terms for genes affiliated with Familial Erythrocytosis 4

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

idNameGO IDScoreTop Affiliating Genes
1transcription from RNA polymerase II promoterGO:0063669.3EPAS1, HLF
2regulation of transcription from RNA polymerase II promoter in response to hypoxiaGO:0614189.0EPAS1, EGLN1
3cellular response to hypoxiaGO:0714568.9EPAS1, EGLN1
4response to hypoxiaGO:0016668.7EPAS1, EGLN1

Molecular functions related to Familial Erythrocytosis 4 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1sequence-specific DNA bindingGO:0435659.3EPAS1, HLF

Products for genes affiliated with Familial Erythrocytosis 4

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Familial Erythrocytosis 4

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet