MCID: FML121
MIFTS: 13

Familial Erythrocytosis 4 malady

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

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MalaCards based summary: Familial Erythrocytosis 4, is also known as erythrocytosis, familial, 4 and has symptoms including An important gene associated with Familial Erythrocytosis 4 is EPAS1 (endothelial PAS domain protein 1).

Description from OMIM:46 611783

Aliases & Classifications for Familial Erythrocytosis 4

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Familial Erythrocytosis 4, Aliases & Descriptions:

Name: Familial Erythrocytosis 4 20 22
 
Erythrocytosis, Familial, 4 46


Classifications:

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


Related Diseases for Familial Erythrocytosis 4

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Symptoms for Familial Erythrocytosis 4

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Clinical features from OMIM:

611783

HPO human phenotypes related to Familial Erythrocytosis 4:

id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 increased hematocrit HP:0001899
3 increased hemoglobin HP:0001900

Drugs & Therapeutics for Familial Erythrocytosis 4

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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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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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Variations for Familial Erythrocytosis 4

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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:

6
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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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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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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Products for genes affiliated with Familial Erythrocytosis 4

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  • Antibodies
  • Proteins
  • Lysates

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet