MCID: ATS209
MIFTS: 28

Autosomal Dominant Secondary Polycythemia

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

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:

Orphanet: 58  
Rare haematological diseases


External Ids:

ICD10 via Orphanet 33 D75.1
Orphanet 58 ORPHA247511

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

Related Diseases for Autosomal Dominant Secondary Polycythemia

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

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

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

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
19208626 2009
2
PHD2 mutation and congenital erythrocytosis with paraganglioma. 6
19092153 2008
3
Novel exon 12 mutations in the HIF2A gene associated with erythrocytosis. 6
18378852 2008
4
A gain-of-function mutation in the HIF2A gene in familial erythrocytosis. 6
18184961 2008
5
A novel erythrocytosis-associated PHD2 mutation suggests the location of a HIF binding groove. 6
17579185 2007
6
A family with erythrocytosis establishes a role for prolyl hydroxylase domain protein 2 in oxygen homeostasis. 6
16407130 2006

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

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 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 for Autosomal Dominant Secondary 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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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