Autosomal Dominant Secondary Polycythemia disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

Sources

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:

MalaCards categories:
Global: Rare diseases Genetic diseases
Anatomical: Blood diseases Immune diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism

Other diseases of blood and blood-forming organs

Secondary polycythaemia

Orphanet: ⁵⁸

Rare haematological diseases

External Ids:

ICD10 via Orphanet ³³ D75.1

Orphanet ⁵⁸ ORPHA247511

Sources

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

Sources

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

(show all 20)

#	Related Disease	Score	Top Affiliating Genes
1	erythrocytosis, familial, 1	9.8	EPO EGLN1
2	parathyroid gland disease	9.8	EPO EGLN1
3	erythrocytosis, familial, 4	9.6	EPAS1 EGLN1
4	duodenal somatostatinoma	9.6	EPAS1 EGLN1
5	esophagus leiomyoma	9.6	EPAS1 EGLN1
6	hemangioblastoma	9.6	EPO EPAS1
7	persistent generalized lymphadenopathy	9.6	EPAS1 EGLN1
8	pulmonary edema	9.6	EPO EPAS1
9	ichthyosis, congenital, autosomal recessive 11	9.6	EPAS1 EGLN1
10	paraganglioma	9.5	EPAS1 EGLN1
11	restless legs syndrome	9.5	EPO EPAS1
12	hypoxia	9.4	EPAS1 EGLN1
13	autosomal recessive congenital ichthyosis	9.3	EPAS1 EGLN1
14	polycythemia	9.3	EPO EPAS1 EGLN1
15	plethora of newborn	9.2	EPO EPAS1 EGLN1
16	acquired polycythemia	9.2	EPO EPAS1 EGLN1
17	clear cell renal cell carcinoma	9.2	EPO EPAS1
18	erythrocytosis, familial, 2, autosomal recessive	9.2	EPO EPAS1 EGLN1
19	primary polycythemia	9.2	EPO EPAS1 EGLN1
20	pheochromocytoma	9.2	EPO EPAS1 EGLN1

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

Sources

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

Sources

Drugs & Therapeutics for Autosomal Dominant Secondary Polycythemia

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

Sources

Genetic Tests for Autosomal Dominant Secondary Polycythemia

Sources

Anatomical Context for Autosomal Dominant Secondary Polycythemia

Sources

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	Hussein K...McMullin MF	22274579	2012
2	Erythrocytosis-associated HIF-2alpha mutations demonstrate a critical role for residues C-terminal to the hydroxylacceptor proline. ⁶	Furlow PW...Lee FS	19208626	2009
3	PHD2 mutation and congenital erythrocytosis with paraganglioma. ⁶	Ladroue C...Gardie B	19092153	2008
4	Novel exon 12 mutations in the HIF2A gene associated with erythrocytosis. ⁶	Percy MJ...Lee FS	18378852	2008
5	A gain-of-function mutation in the HIF2A gene in familial erythrocytosis. ⁶	Percy MJ...Lee FS	18184961	2008
6	A novel erythrocytosis-associated PHD2 mutation suggests the location of a HIF binding groove. ⁶	Percy MJ...Lee FS	17579185	2007
7	A family with erythrocytosis establishes a role for prolyl hydroxylase domain protein 2 in oxygen homeostasis. ⁶	Percy MJ...Lee FS	16407130	2006

Sources

Genes for Autosomal Dominant Secondary Polycythemia

Genes related to Autosomal Dominant Secondary Polycythemia (3 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	EGLN1	Egl-9 Family Hypoxia Inducible Factor 1	Protein Coding	350	Causative germline mutation (loss of function) ⁵⁸
2	EPAS1	Endothelial PAS Domain Protein 1	Protein Coding	350	Causative germline mutation (gain of function) ⁵⁸
3	EPO	Erythropoietin	Protein Coding	350	Causative germline mutation (gain of function) ⁵⁸

Sources

Variations for Autosomal Dominant Secondary Polycythemia

Sources

Expression for Autosomal Dominant Secondary Polycythemia

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

Sources

Pathways for Autosomal Dominant Secondary Polycythemia

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

#	Super pathways	Score	Top Affiliating Genes
1	Cellular Senescence (REACTOME) ⁶⁵ Show member pathways Cellular Senescence ⁶⁵ Oxidative Stress Induced Senescence ⁶⁵ Senescence-Associated Secretory Phenotype (SASP) ⁶⁵	12.49	EPO EPAS1 EGLN1
2	Pathways in cancer ³⁶	12.06	EPO EPAS1 EGLN1
3	ErbB signaling pathway ³⁶ ¹ Show member pathways EGFR Inhibitor Pathway, Pharmacodynamics ⁶⁰ EGFR tyrosine kinase inhibitor resistance ³⁶ Renal cell carcinoma ³⁶ TCA Cycle Nutrient Utilization and Invasiveness of Ovarian Cancer ¹	12.01	EPAS1 EGLN1
4	Translational Control ⁴	11.72	EPAS1 EGLN1
5	HIF-1 signaling pathway ³⁶	11.44	EPO EGLN1
6	HIF-1-alpha transcription factor network ¹	11.13	EPO EGLN1
7	HIF1Alpha Pathway ⁶³	10.99	EPO EGLN1
8	Photodynamic therapy-induced HIF-1 survival signaling ¹	10.52	EPO EGLN1
9	HIF-2-alpha transcription factor network ¹	10.33	EPO EPAS1 EGLN1

Sources

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

Sources for Autosomal Dominant Secondary Polycythemia

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NIH Rare Diseases

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia