MCID: FML121
MIFTS: 15

Familial Erythrocytosis 4 malady

Genetic diseases, Rare diseases, Blood diseases categories

Summaries for Familial Erythrocytosis 4

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OMIM:46 Familial erythrocytosis-4 is an autosomal dominant disorder characterized by increased serum red blood cell mass and... (611783) more...

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

Aliases & Classifications for Familial Erythrocytosis 4

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Familial Erythrocytosis 4, Aliases & Descriptions:

Name: Familial Erythrocytosis 4 21 23
 
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 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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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:

63
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:

7
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
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Familial Erythrocytosis 4

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet