MCID: ATS209
MIFTS: 21

Autosomal Dominant Secondary Polycythemia

Categories: Blood diseases, Genetic diseases, Immune diseases, Rare diseases

Aliases & Classifications for Autosomal Dominant Secondary Polycythemia

MalaCards integrated aliases for Autosomal Dominant Secondary Polycythemia:

Name: Autosomal Dominant Secondary Polycythemia 58
Autosomal Dominant Secondary Erythrocytosis 58

Characteristics:

Orphanet epidemiological data:

58
autosomal dominant secondary polycythemia
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 58  
Rare haematological diseases


External Ids:

ICD10 via Orphanet 33 D75.1
Orphanet 58 ORPHA247511

Summaries for Autosomal Dominant Secondary Polycythemia

MalaCards based summary : Autosomal Dominant Secondary Polycythemia, also known as autosomal dominant secondary erythrocytosis, is related to erythrocytosis, familial, 1 and parathyroid gland disease. An important gene associated with Autosomal Dominant Secondary Polycythemia is EGLN1 (Egl-9 Family Hypoxia Inducible Factor 1), and among its related pathways/superpathways are Cellular Senescence (REACTOME) and Pathways in cancer. Related phenotypes are embryo and liver/biliary system

Related Diseases for Autosomal Dominant Secondary Polycythemia

Graphical network of the top 20 diseases related to Autosomal Dominant Secondary Polycythemia:



Diseases related to Autosomal Dominant Secondary Polycythemia

Symptoms & Phenotypes for Autosomal Dominant Secondary Polycythemia

MGI Mouse Phenotypes related to Autosomal Dominant Secondary Polycythemia:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 9.43 EGLN1 EPAS1 EPO
2 liver/biliary system MP:0005370 9.33 EGLN1 EPAS1 EPO
3 muscle MP:0005369 9.13 EGLN1 EPAS1 EPO
4 respiratory system MP:0005388 8.8 EGLN1 EPAS1 EPO

Drugs & Therapeutics for Autosomal Dominant Secondary Polycythemia

Search Clinical Trials , NIH Clinical Center for Autosomal Dominant Secondary Polycythemia

Genetic Tests for Autosomal Dominant Secondary Polycythemia

Anatomical Context for Autosomal Dominant Secondary Polycythemia

Publications for Autosomal Dominant Secondary Polycythemia

Articles related to Autosomal Dominant Secondary Polycythemia:

# Title Authors PMID Year
1
Clinical utility gene card for: familial erythrocytosis. 6
22274579 2012
2
Erythrocytosis-associated HIF-2alpha mutations demonstrate a critical role for residues C-terminal to the hydroxylacceptor proline. 6
19208626 2009
3
PHD2 mutation and congenital erythrocytosis with paraganglioma. 6
19092153 2008
4
Novel exon 12 mutations in the HIF2A gene associated with erythrocytosis. 6
18378852 2008
5
A gain-of-function mutation in the HIF2A gene in familial erythrocytosis. 6
18184961 2008
6
A novel erythrocytosis-associated PHD2 mutation suggests the location of a HIF binding groove. 6
17579185 2007
7
A family with erythrocytosis establishes a role for prolyl hydroxylase domain protein 2 in oxygen homeostasis. 6
16407130 2006

Variations for Autosomal Dominant Secondary Polycythemia

Expression for Autosomal Dominant Secondary Polycythemia

Search GEO for disease gene expression data for Autosomal Dominant Secondary Polycythemia.

Pathways for Autosomal Dominant Secondary Polycythemia

GO Terms for Autosomal Dominant Secondary Polycythemia

Biological processes related to Autosomal Dominant Secondary Polycythemia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cellular response to hypoxia GO:0071456 9.26 EPAS1 EGLN1
2 erythrocyte differentiation GO:0030218 9.16 EPO EPAS1
3 response to hypoxia GO:0001666 9.13 EPO EPAS1 EGLN1
4 regulation of transcription from RNA polymerase II promoter in response to hypoxia GO:0061418 8.8 EPO EPAS1 EGLN1

Sources for Autosomal Dominant Secondary Polycythemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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