ECYT3
MCID: ERY031
MIFTS: 30

Erythrocytosis, Familial, 3 (ECYT3)

Categories: Blood diseases, Cancer diseases, Genetic diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Erythrocytosis, Familial, 3

MalaCards integrated aliases for Erythrocytosis, Familial, 3:

Name: Erythrocytosis, Familial, 3 57 72 29 13 6 70
Ecyt3 57 12 72
Familial Erythrocytosis 3 12 15
Erythrocytosis, Familial, Type 3 39

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
see also erythrocytosis 1 (ecyt1, )


HPO:

31
erythrocytosis, familial, 3:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0080338
OMIM® 57 609820
OMIM Phenotypic Series 57 PS133100
MeSH 44 D011086
MedGen 41 C1853286
SNOMED-CT via HPO 68 131141003 263681008
UMLS 70 C1853286

Summaries for Erythrocytosis, Familial, 3

UniProtKB/Swiss-Prot : 72 Erythrocytosis, familial, 3: An autosomal dominant disorder characterized by elevated serum hemoglobin and hematocrit, and normal serum erythropoietin levels.

MalaCards based summary : Erythrocytosis, Familial, 3, also known as ecyt3, is related to acquired polycythemia and erythrocytosis, familial, 8. An important gene associated with Erythrocytosis, Familial, 3 is EGLN1 (Egl-9 Family Hypoxia Inducible Factor 1), and among its related pathways/superpathways are Angiogenesis (CST) and HIF1Alpha Pathway. Related phenotypes are increased hematocrit and increased red blood cell mass

Disease Ontology : 12 A primary polycythemia that has material basis in heterozygous mutation in the EGLN1 gene on chromosome 1q42.

More information from OMIM: 609820 PS133100

Related Diseases for Erythrocytosis, Familial, 3

Diseases in the Erythrocytosis, Familial, 2 family:

Erythrocytosis, Familial, 1 Erythrocytosis, Familial, 8
Erythrocytosis, Familial, 3 Erythrocytosis, Familial, 4
Erythrocytosis, Familial, 5 Erythrocytosis, Familial, 6
Erythrocytosis, Familial, 7

Diseases related to Erythrocytosis, Familial, 3 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 acquired polycythemia 9.9 EGLN1 BPGM
2 erythrocytosis, familial, 8 9.9 EGLN1 BPGM
3 primary polycythemia 9.8 EGLN1 BPGM
4 erythrocytosis, familial, 1 9.7 EGLN1 BPGM
5 erythrocytosis, familial, 4 9.7 LINS1 EGLN1 BPGM

Graphical network of the top 20 diseases related to Erythrocytosis, Familial, 3:



Diseases related to Erythrocytosis, Familial, 3

Symptoms & Phenotypes for Erythrocytosis, Familial, 3

Human phenotypes related to Erythrocytosis, Familial, 3:

31
# Description HPO Frequency HPO Source Accession
1 increased hematocrit 31 HP:0001899
2 increased red blood cell mass 31 HP:0001898
3 increased hemoglobin 31 HP:0001900

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Hematology:
increased hematocrit
increased red blood cell mass
increased hemoglobin
erythrocytosis
normal oxygen affinity of hemoglobin

Laboratory Abnormalities:
normal serum erythropoietin (epo, )

Clinical features from OMIM®:

609820 (Updated 05-Apr-2021)

Drugs & Therapeutics for Erythrocytosis, Familial, 3

Search Clinical Trials , NIH Clinical Center for Erythrocytosis, Familial, 3

Genetic Tests for Erythrocytosis, Familial, 3

Genetic tests related to Erythrocytosis, Familial, 3:

# Genetic test Affiliating Genes
1 Erythrocytosis, Familial, 3 29 EGLN1

Anatomical Context for Erythrocytosis, Familial, 3

Publications for Erythrocytosis, Familial, 3

Articles related to Erythrocytosis, Familial, 3:

# Title Authors PMID Year
1
PHD2 mutation and congenital erythrocytosis with paraganglioma. 6 57
19092153 2008
2
A novel erythrocytosis-associated PHD2 mutation suggests the location of a HIF binding groove. 57 6
17579185 2007
3
A family with erythrocytosis establishes a role for prolyl hydroxylase domain protein 2 in oxygen homeostasis. 6 57
16407130 2006

Variations for Erythrocytosis, Familial, 3

ClinVar genetic disease variations for Erythrocytosis, Familial, 3:

6 (show top 50) (show all 191)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 EGLN1 NM_022051.2(EGLN1):c.950C>G (p.Pro317Arg) SNV Pathogenic 4355 rs80358193 GRCh37: 1:231509787-231509787
GRCh38: 1:231374041-231374041
2 EGLN1 NM_022051.2(EGLN1):c.1112G>A (p.Arg371His) SNV Pathogenic 4356 rs119476044 GRCh37: 1:231506344-231506344
GRCh38: 1:231370598-231370598
3 EGLN1 NM_022051.2(EGLN1):c.1121A>G (p.His374Arg) SNV Pathogenic 4357 rs119476045 GRCh37: 1:231506335-231506335
GRCh38: 1:231370589-231370589
4 EGLN1 NM_022051.2(EGLN1):c.461C>A (p.Ser154Ter) SNV Pathogenic 649669 rs1018129986 GRCh37: 1:231557174-231557174
GRCh38: 1:231421428-231421428
5 EGLN1 NM_022051.2(EGLN1):c.287C>T (p.Ala96Val) SNV Conflicting interpretations of pathogenicity 407206 rs113401862 GRCh37: 1:231557348-231557348
GRCh38: 1:231421602-231421602
6 EGLN1 NM_022051.2(EGLN1):c.558G>C (p.Lys186Asn) SNV Conflicting interpretations of pathogenicity 465825 rs201365992 GRCh37: 1:231557077-231557077
GRCh38: 1:231421331-231421331
7 EGLN1 NM_022051.3(EGLN1):c.413T>C (p.Val138Ala) SNV Uncertain significance 840052 GRCh37: 1:231557222-231557222
GRCh38: 1:231421476-231421476
8 EGLN1 NM_022051.3(EGLN1):c.1216+6C>T SNV Uncertain significance 840447 GRCh37: 1:231503309-231503309
GRCh38: 1:231367563-231367563
9 EGLN1 NM_022051.3(EGLN1):c.925G>T (p.Gly309Cys) SNV Uncertain significance 850333 GRCh37: 1:231509812-231509812
GRCh38: 1:231374066-231374066
10 EGLN1 NM_022051.3(EGLN1):c.232G>A (p.Ala78Thr) SNV Uncertain significance 941631 GRCh37: 1:231557403-231557403
GRCh38: 1:231421657-231421657
11 EGLN1 NM_022051.3(EGLN1):c.103C>G (p.Arg35Gly) SNV Uncertain significance 944905 GRCh37: 1:231557532-231557532
GRCh38: 1:231421786-231421786
12 EGLN1 NM_022051.3(EGLN1):c.382C>A (p.Arg128Ser) SNV Uncertain significance 1037605 GRCh37: 1:231557253-231557253
GRCh38: 1:231421507-231421507
13 EGLN1 NM_022051.3(EGLN1):c.325A>G (p.Lys109Glu) SNV Uncertain significance 1039916 GRCh37: 1:231557310-231557310
GRCh38: 1:231421564-231421564
14 EGLN1 NM_022051.3(EGLN1):c.-37G>C SNV Uncertain significance 876162 GRCh37: 1:231557671-231557671
GRCh38: 1:231421925-231421925
15 EGLN1 NM_022051.3(EGLN1):c.-46C>T SNV Uncertain significance 876163 GRCh37: 1:231557680-231557680
GRCh38: 1:231421934-231421934
16 EGLN1 NC_000001.11:g.231422654A>G SNV Uncertain significance 876219 GRCh37: 1:231558400-231558400
GRCh38: 1:231422654-231422654
17 EGLN1 NC_000001.11:g.231422816A>T SNV Uncertain significance 876220 GRCh37: 1:231558562-231558562
GRCh38: 1:231422816-231422816
18 EGLN1 NM_022051.3(EGLN1):c.-188A>C SNV Uncertain significance 876305 GRCh37: 1:231557822-231557822
GRCh38: 1:231422076-231422076
19 EGLN1 NM_022051.3(EGLN1):c.-377G>A SNV Uncertain significance 876306 GRCh37: 1:231558011-231558011
GRCh38: 1:231422265-231422265
20 EGLN1 NM_022051.2(EGLN1):c.419C>T (p.Ala140Val) SNV Uncertain significance 407204 rs768557500 GRCh37: 1:231557216-231557216
GRCh38: 1:231421470-231421470
21 EGLN1 NM_022051.2(EGLN1):c.359C>T (p.Pro120Leu) SNV Uncertain significance 296193 rs796280222 GRCh37: 1:231557276-231557276
GRCh38: 1:231421530-231421530
22 EGLN1 NM_022051.2(EGLN1):c.287C>T (p.Ala96Val) SNV Uncertain significance 407206 rs113401862 GRCh37: 1:231557348-231557348
GRCh38: 1:231421602-231421602
23 EGLN1 NM_022051.3(EGLN1):c.32C>T (p.Pro11Leu) SNV Uncertain significance 838336 GRCh37: 1:231557603-231557603
GRCh38: 1:231421857-231421857
24 EGLN1 NM_022051.3(EGLN1):c.491C>T (p.Pro164Leu) SNV Uncertain significance 858421 GRCh37: 1:231557144-231557144
GRCh38: 1:231421398-231421398
25 EGLN1 NM_022051.3(EGLN1):c.454C>A (p.Arg152Ser) SNV Uncertain significance 946746 GRCh37: 1:231557181-231557181
GRCh38: 1:231421435-231421435
26 EGLN1 NM_022051.3(EGLN1):c.8A>G (p.Asn3Ser) SNV Uncertain significance 954951 GRCh37: 1:231557627-231557627
GRCh38: 1:231421881-231421881
27 EGLN1 NM_022051.3(EGLN1):c.362C>G (p.Ala121Gly) SNV Uncertain significance 1018668 GRCh37: 1:231557273-231557273
GRCh38: 1:231421527-231421527
28 EGLN1 NM_022051.3(EGLN1):c.493C>G (p.Pro165Ala) SNV Uncertain significance 1023965 GRCh37: 1:231557142-231557142
GRCh38: 1:231421396-231421396
29 EGLN1 NM_022051.3(EGLN1):c.*371A>C SNV Uncertain significance 877061 GRCh37: 1:231501786-231501786
GRCh38: 1:231366040-231366040
30 EGLN1 NM_022051.3(EGLN1):c.272G>A (p.Arg91Gln) SNV Uncertain significance 950494 GRCh37: 1:231557363-231557363
GRCh38: 1:231421617-231421617
31 EGLN1 NM_022051.3(EGLN1):c.634G>A (p.Asp212Asn) SNV Uncertain significance 951080 GRCh37: 1:231557001-231557001
GRCh38: 1:231421255-231421255
32 EGLN1 NM_022051.3(EGLN1):c.353C>A (p.Ala118Asp) SNV Uncertain significance 844180 GRCh37: 1:231557282-231557282
GRCh38: 1:231421536-231421536
33 EGLN1 NM_022051.3(EGLN1):c.202G>C (p.Gly68Arg) SNV Uncertain significance 855907 GRCh37: 1:231557433-231557433
GRCh38: 1:231421687-231421687
34 EGLN1 NM_022051.3(EGLN1):c.817A>G (p.Met273Val) SNV Uncertain significance 860638 GRCh37: 1:231556818-231556818
GRCh38: 1:231421072-231421072
35 EGLN1 NM_022051.3(EGLN1):c.872A>G (p.Lys291Arg) SNV Uncertain significance 936285 GRCh37: 1:231556763-231556763
GRCh38: 1:231421017-231421017
36 EGLN1 NM_022051.3(EGLN1):c.630G>A (p.Val210=) SNV Uncertain significance 942419 GRCh37: 1:231557005-231557005
GRCh38: 1:231421259-231421259
37 EGLN1 NM_022051.3(EGLN1):c.261G>C (p.Arg87Ser) SNV Uncertain significance 949559 GRCh37: 1:231557374-231557374
GRCh38: 1:231421628-231421628
38 EGLN1 NM_022051.3(EGLN1):c.190G>A (p.Ala64Thr) SNV Uncertain significance 957050 GRCh37: 1:231557445-231557445
GRCh38: 1:231421699-231421699
39 EGLN1 NM_022051.3(EGLN1):c.735T>G (p.Ser245Arg) SNV Uncertain significance 959552 GRCh37: 1:231556900-231556900
GRCh38: 1:231421154-231421154
40 EGLN1 NM_022051.3(EGLN1):c.95G>A (p.Arg32His) SNV Uncertain significance 1003769 GRCh37: 1:231557540-231557540
GRCh38: 1:231421794-231421794
41 EGLN1 NM_022051.3(EGLN1):c.352G>T (p.Ala118Ser) SNV Uncertain significance 1008892 GRCh37: 1:231557283-231557283
GRCh38: 1:231421537-231421537
42 EGLN1 NM_022051.3(EGLN1):c.1201G>A (p.Val401Ile) SNV Uncertain significance 1010290 GRCh37: 1:231503330-231503330
GRCh38: 1:231367584-231367584
43 EGLN1 NM_022051.2(EGLN1):c.311C>T (p.Ser104Phe) SNV Uncertain significance 407205 rs551207815 GRCh37: 1:231557324-231557324
GRCh38: 1:231421578-231421578
44 EGLN1 NM_022051.2(EGLN1):c.892-11_892-6del Deletion Uncertain significance 650974 rs748954220 GRCh37: 1:231509851-231509856
GRCh38: 1:231374105-231374110
45 EGLN1 NM_022051.2(EGLN1):c.1244A>G (p.Asn415Ser) SNV Uncertain significance 661092 rs748926816 GRCh37: 1:231502194-231502194
GRCh38: 1:231366448-231366448
46 EGLN1 NM_022051.2(EGLN1):c.366_389dup (p.Ala124_Ala131dup) Duplication Uncertain significance 665404 rs1470968362 GRCh37: 1:231557245-231557246
GRCh38: 1:231421499-231421500
47 EGLN1 NM_022051.2(EGLN1):c.405C>T (p.Gly135=) SNV Uncertain significance 465824 rs781566823 GRCh37: 1:231557230-231557230
GRCh38: 1:231421484-231421484
48 EGLN1 NM_022051.2(EGLN1):c.245C>T (p.Ala82Val) SNV Uncertain significance 534224 rs771498926 GRCh37: 1:231557390-231557390
GRCh38: 1:231421644-231421644
49 EGLN1 NM_022051.2(EGLN1):c.122_124del (p.Tyr41del) Deletion Uncertain significance 534225 rs1182227189 GRCh37: 1:231557511-231557513
GRCh38: 1:231421765-231421767
50 EGLN1 NM_022051.2(EGLN1):c.568_569delinsTT (p.Ala190Leu) Indel Uncertain significance 569465 rs1558086261 GRCh37: 1:231557066-231557067
GRCh38: 1:231421320-231421321

UniProtKB/Swiss-Prot genetic disease variations for Erythrocytosis, Familial, 3:

72
# Symbol AA change Variation ID SNP ID
1 EGLN1 p.Pro317Arg VAR_027371 rs80358193
2 EGLN1 p.Arg371His VAR_045902 rs119476044

Expression for Erythrocytosis, Familial, 3

Search GEO for disease gene expression data for Erythrocytosis, Familial, 3.

Pathways for Erythrocytosis, Familial, 3

Pathways related to Erythrocytosis, Familial, 3 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.91 NDRG3 EGLN1
2 10.36 SLC2A6 EGLN1

GO Terms for Erythrocytosis, Familial, 3

Molecular functions related to Erythrocytosis, Familial, 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 L-ascorbic acid binding GO:0031418 8.62 EGLN1 DBH

Sources for Erythrocytosis, Familial, 3

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
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