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

MCID: ATS209 MIFTS: 28	Autosomal Dominant Secondary Polycythemia Categories: Blood diseases, Cardiovascular diseases, Genetic diseases, Immune diseases, Rare diseases, Respiratory diseases
Genes Variations Related diseases Publications Pathways Expand all tables

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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 Respiratory diseases Cardiovascular 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

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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 liver/biliary system and muscle

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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 23)

#	Related Disease	Score	Top Affiliating Genes
1	erythrocytosis, familial, 1	9.9	EPO EGLN1
2	parathyroid gland disease	9.9	EPO EGLN1
3	familial isolated hypoparathyroidism	9.9	EPO EGLN1
4	chronic mountain sickness	9.8	EPO EPAS1
5	duodenal somatostatinoma	9.8	EPAS1 EGLN1
6	erythrocytosis, familial, 4	9.8	EPAS1 EGLN1
7	esophagus leiomyoma	9.7	EPAS1 EGLN1
8	hemangioblastoma	9.7	EPO EPAS1
9	persistent generalized lymphadenopathy	9.7	EPAS1 EGLN1
10	ichthyosis, congenital, autosomal recessive 11	9.7	EPAS1 EGLN1
11	paraganglioma	9.7	EPAS1 EGLN1
12	restless legs syndrome	9.7	EPO EPAS1
13	von hippel-lindau syndrome	9.7	EPAS1 EGLN1
14	hypoxia	9.6	EPAS1 EGLN1
15	autosomal recessive congenital ichthyosis	9.6	EPAS1 EGLN1
16	clear cell renal cell carcinoma	9.6	EPO EPAS1
17	plethora of newborn	9.5	EPO EPAS1 EGLN1
18	polycythemia	9.5	EPO EPAS1 EGLN1
19	acquired polycythemia	9.5	EPO EPAS1 EGLN1
20	primary polycythemia	9.5	EPO EPAS1 EGLN1
21	erythrocytosis, familial, 2	9.5	EPO EPAS1 EGLN1
22	deficiency anemia	9.5	EPO EPAS1
23	pheochromocytoma	9.4	EPO EPAS1 EGLN1

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

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Symptoms & Phenotypes for Autosomal Dominant Secondary Polycythemia

MGI Mouse Phenotypes related to Autosomal Dominant Secondary Polycythemia:

⁴⁶

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

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Drugs & Therapeutics for Autosomal Dominant Secondary Polycythemia

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

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Genetic Tests for Autosomal Dominant Secondary Polycythemia

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Anatomical Context for Autosomal Dominant Secondary Polycythemia

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Publications for Autosomal Dominant Secondary Polycythemia

Articles related to Autosomal Dominant Secondary Polycythemia:

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

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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	PubMed IDs
1	EGLN1	Egl-9 Family Hypoxia Inducible Factor 1	Protein Coding	750	Pathogenic ⁶ Causative germline mutation (loss of function) ⁵⁸	19092153 17579185 16407130
2	EPAS1	Endothelial PAS Domain Protein 1	Protein Coding	750	Pathogenic ⁶ Causative germline mutation (gain of function) ⁵⁸	18378852 19208626 18184961
3	EPO	Erythropoietin	Protein Coding	350	Causative germline mutation (gain of function) ⁵⁸

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Variations for Autosomal Dominant Secondary Polycythemia

ClinVar genetic disease variations for Autosomal Dominant Secondary Polycythemia:

⁶ (show top 50) (show all 317)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	EGLN1	NM_022051.2(EGLN1):c.950C>G (p.Pro317Arg)	SNV	Pathogenic	4355	rs80358193	1:231509787-231509787	1:231374041-231374041
2	EGLN1	NM_022051.2(EGLN1):c.1112G>A (p.Arg371His)	SNV	Pathogenic	4356	rs119476044	1:231506344-231506344	1:231370598-231370598
3	EGLN1	NM_022051.2(EGLN1):c.1121A>G (p.His374Arg)	SNV	Pathogenic	4357	rs119476045	1:231506335-231506335	1:231370589-231370589
4	EPAS1	NM_001430.5(EPAS1):c.1609G>T (p.Gly537Trp)	SNV	Pathogenic	6468	rs137853036	2:46607420-46607420	2:46380281-46380281
5	EPAS1	NM_001430.5(EPAS1):c.1609G>A (p.Gly537Arg)	SNV	Pathogenic	6469	rs137853036	2:46607420-46607420	2:46380281-46380281
6	EPAS1	NM_001430.5(EPAS1):c.1603A>G (p.Met535Val)	SNV	Pathogenic	6470	rs137853037	2:46607414-46607414	2:46380275-46380275
7	EGLN1	NM_022051.2(EGLN1):c.461C>A (p.Ser154Ter)	SNV	Pathogenic	649669	rs1018129986	1:231557174-231557174	1:231421428-231421428
8	EGLN1	NM_022051.2(EGLN1):c.558G>C (p.Lys186Asn)	SNV	Conflicting interpretations of pathogenicity	465825	rs201365992	1:231557077-231557077	1:231421331-231421331
9	EPAS1	NM_001430.5(EPAS1):c.1121T>A (p.Phe374Tyr)	SNV	Conflicting interpretations of pathogenicity	336261	rs150797491	2:46603764-46603764	2:46376625-46376625
10	EGLN1	NM_022051.2(EGLN1):c.287C>T (p.Ala96Val)	SNV	Conflicting interpretations of pathogenicity	407206	rs113401862	1:231557348-231557348	1:231421602-231421602
11	EGLN1	NM_022051.2(EGLN1):c.833A>G (p.Asp278Gly)	SNV	Uncertain significance	407208	rs753303580	1:231556802-231556802	1:231421056-231421056
12	EGLN1	NM_022051.2(EGLN1):c.-901T>C	SNV	Uncertain significance	296218	rs886046125	1:231558535-231558535	1:231422789-231422789
13	EGLN1	NM_022051.2(EGLN1):c.-720C>T	SNV	Uncertain significance	296215	rs886046123	1:231558354-231558354	1:231422608-231422608
14	EGLN1	NM_022051.2(EGLN1):c.311C>T (p.Ser104Phe)	SNV	Uncertain significance	407205	rs551207815	1:231557324-231557324	1:231421578-231421578
15	EPAS1	NM_001430.5(EPAS1):c.-347T>G	SNV	Uncertain significance	336222	rs192684713	2:46524704-46524704	2:46297565-46297565
16	EGLN1	NM_022051.2(EGLN1):c.*603C>A	SNV	Uncertain significance	296175	rs886046104	1:231501554-231501554	1:231365808-231365808
17	EPAS1	NM_001430.5(EPAS1):c.-231C>G	SNV	Uncertain significance	336225	rs750848838	2:46524820-46524820	2:46297681-46297681
18	EGLN1	NM_022051.2(EGLN1):c.-470C>T	SNV	Uncertain significance	296206	rs886046118	1:231558104-231558104	1:231422358-231422358
19	EGLN1	NM_022051.2(EGLN1):c.*663C>T	SNV	Uncertain significance	296172	rs375652885	1:231501494-231501494	1:231365748-231365748
20	EPAS1	NM_001430.5(EPAS1):c.*833G>A	SNV	Uncertain significance	336302	rs539023852	2:46612632-46612632	2:46385493-46385493
21	EPAS1	NM_001430.5(EPAS1):c.-138G>T	SNV	Uncertain significance	336228	rs886056081	2:46524913-46524913	2:46297774-46297774
22	EPAS1	NM_001430.5(EPAS1):c.*527G>T	SNV	Uncertain significance	336291	rs886056091	2:46612326-46612326	2:46385187-46385187
23	EGLN1	NM_022051.2(EGLN1):c.-2567C>T	SNV	Uncertain significance	296238	rs193048016	1:231560201-231560201	1:231424455-231424455
24	EPAS1	NM_001430.5(EPAS1):c.*1225C>T	SNV	Uncertain significance	336308	rs553535570	2:46613024-46613024	2:46385885-46385885
25	EGLN1	NM_022051.2(EGLN1):c.53G>A (p.Arg18Gln)	SNV	Uncertain significance	296196	rs886046112	1:231557582-231557582	1:231421836-231421836
26	EGLN1	NM_022051.2(EGLN1):c.-111G>A	SNV	Uncertain significance	296198	rs886046113	1:231557745-231557745	1:231421999-231421999
27	EGLN1	NM_022051.3(EGLN1):c.32C>T (p.Pro11Leu)	SNV	Uncertain significance	838336		1:231557603-231557603	1:231421857-231421857
28	EGLN1	NM_022051.3(EGLN1):c.413T>C (p.Val138Ala)	SNV	Uncertain significance	840052		1:231557222-231557222	1:231421476-231421476
29	EGLN1	NM_022051.3(EGLN1):c.1216+6C>T	SNV	Uncertain significance	840447		1:231503309-231503309	1:231367563-231367563
30	EGLN1	NM_022051.3(EGLN1):c.353C>A (p.Ala118Asp)	SNV	Uncertain significance	844180		1:231557282-231557282	1:231421536-231421536
31	EGLN1	NM_022051.3(EGLN1):c.925G>T (p.Gly309Cys)	SNV	Uncertain significance	850333		1:231509812-231509812	1:231374066-231374066
32	EGLN1	NM_022051.3(EGLN1):c.202G>C (p.Gly68Arg)	SNV	Uncertain significance	855907		1:231557433-231557433	1:231421687-231421687
33	EGLN1	NM_022051.3(EGLN1):c.491C>T (p.Pro164Leu)	SNV	Uncertain significance	858421		1:231557144-231557144	1:231421398-231421398
34	EGLN1	NM_022051.3(EGLN1):c.817A>G (p.Met273Val)	SNV	Uncertain significance	860638		1:231556818-231556818	1:231421072-231421072
35	EGLN1	NM_022051.3(EGLN1):c.1273G>A (p.Val425Ile)	SNV	Uncertain significance	863658		1:231502165-231502165	1:231366419-231366419
36	EGLN1	NM_022051.3(EGLN1):c.*1854T>G	SNV	Uncertain significance	874223		1:231500303-231500303	1:231364557-231364557
37	EGLN1	NM_022051.3(EGLN1):c.*1825G>A	SNV	Uncertain significance	874224		1:231500332-231500332	1:231364586-231364586
38	EGLN1	NM_022051.3(EGLN1):c.*1326T>C	SNV	Uncertain significance	874225		1:231500831-231500831	1:231365085-231365085
39	EGLN1	NM_022051.3(EGLN1):c.597G>C (p.Val199=)	SNV	Uncertain significance	874270		1:231557038-231557038	1:231421292-231421292
40	EGLN1	NC_000001.11:g.231422311C>T	SNV	Uncertain significance	874328		1:231558057-231558057	1:231422311-231422311
41	EGLN1	NC_000001.11:g.231422394G>A	SNV	Uncertain significance	874329		1:231558140-231558140	1:231422394-231422394
42	EGLN1	NM_022051.2(EGLN1):c.405C>T (p.Gly135=)	SNV	Uncertain significance	465824	rs781566823	1:231557230-231557230	1:231421484-231421484
43	EGLN1	NM_022051.2(EGLN1):c.419C>T (p.Ala140Val)	SNV	Uncertain significance	407204	rs768557500	1:231557216-231557216	1:231421470-231421470
44	EGLN1	NM_022051.2(EGLN1):c.867C>G (p.Ser289Arg)	SNV	Uncertain significance	407207	rs763045676	1:231556768-231556768	1:231421022-231421022
45	EGLN1	NM_022051.2(EGLN1):c.892-11_892-6del	Deletion	Uncertain significance	650974	rs748954220	1:231509851-231509856	1:231374105-231374110
46	EGLN1	NM_022051.2(EGLN1):c.1244A>G (p.Asn415Ser)	SNV	Uncertain significance	661092	rs748926816	1:231502194-231502194	1:231366448-231366448
47	EGLN1	NM_022051.2(EGLN1):c.366_389dup (p.Ala124_Ala131dup)	Duplication	Uncertain significance	665404	rs1470968362	1:231557245-231557246	1:231421499-231421500
48	EGLN1	NM_022051.2(EGLN1):c.245C>T (p.Ala82Val)	SNV	Uncertain significance	534224	rs771498926	1:231557390-231557390	1:231421644-231421644
49	EGLN1	NM_022051.2(EGLN1):c.122_124del (p.Tyr41del)	Deletion	Uncertain significance	534225	rs1182227189	1:231557511-231557513	1:231421765-231421767
50	EGLN1	NM_022051.2(EGLN1):c.359C>T (p.Pro120Leu)	SNV	Uncertain significance	296193	rs796280222	1:231557276-231557276	1:231421530-231421530

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Expression for Autosomal Dominant Secondary Polycythemia

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

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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 responses to stress ⁶⁵ Cellular Senescence ⁶⁵ Oxidative Stress Induced Senescence 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

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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

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Sources for Autosomal Dominant Secondary Polycythemia

¹ BioSystems

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²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

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²⁷ GEO DataSets

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⁴⁸ NCBI Bookshelf

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⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Mar-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

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⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

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⁷¹ UMLS

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⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia