MCID: MLT106
MIFTS: 8

Multiple Paragangliomas Associated with Polycythemia

Categories: Blood diseases, Endocrine diseases, Rare diseases

Aliases & Classifications for Multiple Paragangliomas Associated with Polycythemia

MalaCards integrated aliases for Multiple Paragangliomas Associated with Polycythemia:

Name: Multiple Paragangliomas Associated with Polycythemia 58
Multiple Paragangliomas Associated with Erythrocytosis 58
Paraganglioma-Somatostatinoma-Polycythemia Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
multiple paragangliomas associated with polycythemia
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

Classifications:

Orphanet: 58  
Rare endocrine diseases
Rare haematological diseases


External Ids:

Orphanet 58 ORPHA324299

Summaries for Multiple Paragangliomas Associated with Polycythemia

MalaCards based summary : Multiple Paragangliomas Associated with Polycythemia, also known as multiple paragangliomas associated with erythrocytosis, is related to paraganglioma and somatostatinoma. An important gene associated with Multiple Paragangliomas Associated with Polycythemia is EPAS1 (Endothelial PAS Domain Protein 1).

Related Diseases for Multiple Paragangliomas Associated with Polycythemia

Diseases related to Multiple Paragangliomas Associated with Polycythemia via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 paraganglioma 10.2
2 somatostatinoma 10.2
3 polycythemia 10.2
4 hypoxia 10.2

Symptoms & Phenotypes for Multiple Paragangliomas Associated with Polycythemia

Drugs & Therapeutics for Multiple Paragangliomas Associated with Polycythemia

Search Clinical Trials , NIH Clinical Center for Multiple Paragangliomas Associated with Polycythemia

Genetic Tests for Multiple Paragangliomas Associated with Polycythemia

Anatomical Context for Multiple Paragangliomas Associated with Polycythemia

Publications for Multiple Paragangliomas Associated with Polycythemia

Articles related to Multiple Paragangliomas Associated with Polycythemia:

# Title Authors PMID Year
1
Ocular manifestations of hypoxia-inducible factor-2α paraganglioma-somatostatinoma-polycythemia syndrome. 61
25109928 2014

Variations for Multiple Paragangliomas Associated with Polycythemia

Expression for Multiple Paragangliomas Associated with Polycythemia

Search GEO for disease gene expression data for Multiple Paragangliomas Associated with Polycythemia.

Pathways for Multiple Paragangliomas Associated with Polycythemia

GO Terms for Multiple Paragangliomas Associated with Polycythemia

Sources for Multiple Paragangliomas Associated with Polycythemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....