MCID: ATS209
MIFTS: 20

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 60
Autosomal Dominant Secondary Erythrocytosis 60

Characteristics:

Orphanet epidemiological data:

60
autosomal dominant secondary polycythemia
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

ICD10 via Orphanet 35 D75.1
Orphanet 60 ORPHA247511

Summaries for Autosomal Dominant Secondary Polycythemia

MalaCards based summary : Autosomal Dominant Secondary Polycythemia, also known as autosomal dominant secondary erythrocytosis, is related to primary polycythemia and hypoxia. An important gene associated with Autosomal Dominant Secondary Polycythemia is EPAS1 (Endothelial PAS Domain Protein 1), and among its related pathways/superpathways are Cellular Senescence (REACTOME) and Pathways in cancer. Related phenotypes are Decreased shRNA abundance (Z-score < -2) and Decreased shRNA abundance (Z-score < -2)

Related Diseases for Autosomal Dominant Secondary Polycythemia

Diseases in the Polycythemia family:

Primary Polycythemia Acquired Polycythemia
Polycythemia Due to Hypoxia Autosomal Dominant Secondary Polycythemia

Diseases related to Autosomal Dominant Secondary Polycythemia via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 primary polycythemia 9.6 EGLN1 EPO
2 hypoxia 9.4 EGLN1 EPAS1
3 polycythemia 9.4 EGLN1 EPAS1 EPO
4 erythrocytosis, familial, 2 9.3 EGLN1 EPAS1 EPO
5 plethora of newborn 9.3 EGLN1 EPAS1 EPO

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

GenomeRNAi Phenotypes related to Autosomal Dominant Secondary Polycythemia according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-104 9.02 EGLN1 EPAS1
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-173 9.02 EGLN1
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-184 9.02 EGLN1
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-206 9.02 EGLN1

MGI Mouse Phenotypes related to Autosomal Dominant Secondary Polycythemia:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 9.5 EGLN1 EPAS1 EPO
2 liver/biliary system MP:0005370 9.43 EGLN1 EPAS1 EPO
3 muscle MP:0005369 9.33 EGLN1 EPAS1 EPO
4 respiratory system MP:0005388 9.13 EGLN1 EPAS1 EPO
5 skeleton MP:0005390 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

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 erythrocyte differentiation GO:0030218 9.16 EPAS1 EPO
2 response to hypoxia GO:0001666 9.13 EGLN1 EPAS1 EPO
3 regulation of transcription from RNA polymerase II promoter in response to hypoxia GO:0061418 8.8 EGLN1 EPAS1 EPO

Sources for Autosomal Dominant Secondary Polycythemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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