MCID: CNG266
MIFTS: 8

Congenital Secondary Polycythemia

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

Aliases & Classifications for Congenital Secondary Polycythemia

MalaCards integrated aliases for Congenital Secondary Polycythemia:

Name: Congenital Secondary Polycythemia 58
Congenital Secondary Erythrocytosis 58

Characteristics:

Orphanet epidemiological data:

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

Classifications:

Orphanet: 58  
Rare haematological diseases


External Ids:

ICD10 via Orphanet 33 D75.1
Orphanet 58 ORPHA238536

Summaries for Congenital Secondary Polycythemia

MalaCards based summary : Congenital Secondary Polycythemia, also known as congenital secondary erythrocytosis, is related to polycythemia.

Related Diseases for Congenital Secondary Polycythemia

Diseases in the Polycythemia family:

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

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

# Related Disease Score Top Affiliating Genes
1 polycythemia 9.9

Symptoms & Phenotypes for Congenital Secondary Polycythemia

Drugs & Therapeutics for Congenital Secondary Polycythemia

Search Clinical Trials , NIH Clinical Center for Congenital Secondary Polycythemia

Genetic Tests for Congenital Secondary Polycythemia

Anatomical Context for Congenital Secondary Polycythemia

Publications for Congenital Secondary Polycythemia

Articles related to Congenital Secondary Polycythemia:

# Title Authors PMID Year
1
Novel Homozygous Mutation of the Internal Translation Initiation Start Site of VHL is Exclusively Associated with Erythrocytosis: Indications for Distinct Functional Roles of von Hippel-Lindau Tumor Suppressor Isoforms. 61
26224408 2015
2
Is congenital secondary erythrocytosis/polycythemia caused by activating mutations within the HIF-2 alpha iron-responsive element? 61
17881647 2007
3
Molecular basis for polycythemia. 61
10088640 1999

Variations for Congenital Secondary Polycythemia

Expression for Congenital Secondary Polycythemia

Search GEO for disease gene expression data for Congenital Secondary Polycythemia.

Pathways for Congenital Secondary Polycythemia

GO Terms for Congenital Secondary Polycythemia

Sources for Congenital 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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