ECYT3
MCID: ERY031
MIFTS: 20

Erythrocytosis, Familial, 3 (ECYT3)

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

Aliases & Classifications for Erythrocytosis, Familial, 3

MalaCards integrated aliases for Erythrocytosis, Familial, 3:

Name: Erythrocytosis, Familial, 3 58 76 30 13 6 74
Ecyt3 58 76
Erythrocytosis, Familial, Type 3 41
Familial Erythrocytosis 3 12

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
see also erythrocytosis 1 (ecyt1, )


HPO:

33
erythrocytosis, familial, 3:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0080338
OMIM 58 609820
MeSH 45 D011086
MedGen 43 C1853286
SNOMED-CT via HPO 70 131141003 263681008
UMLS 74 C1853286

Summaries for Erythrocytosis, Familial, 3

UniProtKB/Swiss-Prot : 76 Erythrocytosis, familial, 3: An autosomal dominant disorder characterized by increased serum red blood cell mass, elevated serum hemoglobin and hematocrit, and normal serum erythropoietin levels.

MalaCards based summary : Erythrocytosis, Familial, 3, is also known as ecyt3. An important gene associated with Erythrocytosis, Familial, 3 is EGLN1 (Egl-9 Family Hypoxia Inducible Factor 1). 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.

Description from OMIM: 609820

Related Diseases for Erythrocytosis, Familial, 3

Symptoms & Phenotypes for Erythrocytosis, Familial, 3

Human phenotypes related to Erythrocytosis, Familial, 3:

33
# Description HPO Frequency HPO Source Accession
1 increased hematocrit 33 HP:0001899
2 increased red blood cell mass 33 HP:0001898
3 increased hemoglobin 33 HP:0001900

Symptoms via clinical synopsis from OMIM:

58
Hematology:
increased hematocrit
erythrocytosis
increased red blood cell mass
increased hemoglobin
normal oxygen affinity of hemoglobin

Laboratory Abnormalities:
normal serum erythropoietin (epo, )

Clinical features from OMIM:

609820

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 30 EGLN1

Anatomical Context for Erythrocytosis, Familial, 3

Publications for Erythrocytosis, Familial, 3

Articles related to Erythrocytosis, Familial, 3:

# Title Authors Year
1
Clinical utility gene card for: familial erythrocytosis. ( 22274579 )
2012
2
PHD2 mutation and congenital erythrocytosis with paraganglioma. ( 19092153 )
2008
3
A novel erythrocytosis-associated PHD2 mutation suggests the location of a HIF binding groove. ( 17579185 )
2007
4
A family with erythrocytosis establishes a role for prolyl hydroxylase domain protein 2 in oxygen homeostasis. ( 16407130 )
2006

Variations for Erythrocytosis, Familial, 3

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

76
# Symbol AA change Variation ID SNP ID
1 EGLN1 p.Pro317Arg VAR_027371 rs80358193
2 EGLN1 p.Arg371His VAR_045902 rs119476044

ClinVar genetic disease variations for Erythrocytosis, Familial, 3:

6 (show top 50) (show all 54)
# Gene Variation Type Significance SNP ID Assembly Location
1 EGLN1 NM_022051.2(EGLN1): c.950C> G (p.Pro317Arg) single nucleotide variant Pathogenic rs80358193 GRCh37 Chromosome 1, 231509787: 231509787
2 EGLN1 NM_022051.2(EGLN1): c.950C> G (p.Pro317Arg) single nucleotide variant Pathogenic rs80358193 GRCh38 Chromosome 1, 231374041: 231374041
3 EGLN1 NM_022051.2(EGLN1): c.1112G> A (p.Arg371His) single nucleotide variant Pathogenic rs119476044 GRCh37 Chromosome 1, 231506344: 231506344
4 EGLN1 NM_022051.2(EGLN1): c.1112G> A (p.Arg371His) single nucleotide variant Pathogenic rs119476044 GRCh38 Chromosome 1, 231370598: 231370598
5 EGLN1 NM_022051.2(EGLN1): c.1121A> G (p.His374Arg) single nucleotide variant Pathogenic rs119476045 GRCh37 Chromosome 1, 231506335: 231506335
6 EGLN1 NM_022051.2(EGLN1): c.1121A> G (p.His374Arg) single nucleotide variant Pathogenic rs119476045 GRCh38 Chromosome 1, 231370589: 231370589
7 EGLN1 NM_022051.2(EGLN1): c.12C> G (p.Asp4Glu) single nucleotide variant Benign/Likely benign rs186996510 GRCh37 Chromosome 1, 231557623: 231557623
8 EGLN1 NM_022051.2(EGLN1): c.12C> G (p.Asp4Glu) single nucleotide variant Benign/Likely benign rs186996510 GRCh38 Chromosome 1, 231421877: 231421877
9 EGLN1 NM_022051.2(EGLN1): c.597G> A (p.Val199=) single nucleotide variant Likely benign rs563998083 GRCh37 Chromosome 1, 231557038: 231557038
10 EGLN1 NM_022051.2(EGLN1): c.597G> A (p.Val199=) single nucleotide variant Likely benign rs563998083 GRCh38 Chromosome 1, 231421292: 231421292
11 EGLN1 NM_022051.2(EGLN1): c.471G> C (p.Gln157His) single nucleotide variant Benign/Likely benign rs61750991 GRCh37 Chromosome 1, 231557164: 231557164
12 EGLN1 NM_022051.2(EGLN1): c.471G> C (p.Gln157His) single nucleotide variant Benign/Likely benign rs61750991 GRCh38 Chromosome 1, 231421418: 231421418
13 EGLN1 NM_022051.2(EGLN1): c.319G> T (p.Ala107Ser) single nucleotide variant Uncertain significance rs531081279 GRCh38 Chromosome 1, 231421570: 231421570
14 EGLN1 NM_022051.2(EGLN1): c.319G> T (p.Ala107Ser) single nucleotide variant Uncertain significance rs531081279 GRCh37 Chromosome 1, 231557316: 231557316
15 EGLN1 NM_022051.2(EGLN1): c.1272C> T (p.Asp424=) single nucleotide variant Benign/Likely benign rs61734647 GRCh38 Chromosome 1, 231366420: 231366420
16 EGLN1 NM_022051.2(EGLN1): c.1272C> T (p.Asp424=) single nucleotide variant Benign/Likely benign rs61734647 GRCh37 Chromosome 1, 231502166: 231502166
17 EGLN1 NM_022051.2(EGLN1): c.359C> T (p.Pro120Leu) single nucleotide variant Uncertain significance rs796280222 GRCh38 Chromosome 1, 231421530: 231421530
18 EGLN1 NM_022051.2(EGLN1): c.359C> T (p.Pro120Leu) single nucleotide variant Uncertain significance rs796280222 GRCh37 Chromosome 1, 231557276: 231557276
19 EGLN1 NM_022051.2(EGLN1): c.120C> T (p.Phe40=) single nucleotide variant Benign/Likely benign rs555121182 GRCh38 Chromosome 1, 231421769: 231421769
20 EGLN1 NM_022051.2(EGLN1): c.120C> T (p.Phe40=) single nucleotide variant Benign/Likely benign rs555121182 GRCh37 Chromosome 1, 231557515: 231557515
21 EGLN1 NM_022051.2(EGLN1): c.1113C> T (p.Arg371=) single nucleotide variant Benign/Likely benign rs143991968 GRCh38 Chromosome 1, 231370597: 231370597
22 EGLN1 NM_022051.2(EGLN1): c.1113C> T (p.Arg371=) single nucleotide variant Benign/Likely benign rs143991968 GRCh37 Chromosome 1, 231506343: 231506343
23 EGLN1 NM_022051.2(EGLN1): c.867C> G (p.Ser289Arg) single nucleotide variant Uncertain significance rs763045676 GRCh37 Chromosome 1, 231556768: 231556768
24 EGLN1 NM_022051.2(EGLN1): c.867C> G (p.Ser289Arg) single nucleotide variant Uncertain significance rs763045676 GRCh38 Chromosome 1, 231421022: 231421022
25 EGLN1 NM_022051.2(EGLN1): c.833A> G (p.Asp278Gly) single nucleotide variant Uncertain significance rs753303580 GRCh37 Chromosome 1, 231556802: 231556802
26 EGLN1 NM_022051.2(EGLN1): c.833A> G (p.Asp278Gly) single nucleotide variant Uncertain significance rs753303580 GRCh38 Chromosome 1, 231421056: 231421056
27 EGLN1 NM_022051.2(EGLN1): c.470A> G (p.Gln157Arg) single nucleotide variant Likely benign rs748272071 GRCh37 Chromosome 1, 231557165: 231557165
28 EGLN1 NM_022051.2(EGLN1): c.470A> G (p.Gln157Arg) single nucleotide variant Likely benign rs748272071 GRCh38 Chromosome 1, 231421419: 231421419
29 EGLN1 NM_022051.2(EGLN1): c.419C> T (p.Ala140Val) single nucleotide variant Uncertain significance rs768557500 GRCh37 Chromosome 1, 231557216: 231557216
30 EGLN1 NM_022051.2(EGLN1): c.419C> T (p.Ala140Val) single nucleotide variant Uncertain significance rs768557500 GRCh38 Chromosome 1, 231421470: 231421470
31 EGLN1 NM_022051.2(EGLN1): c.252G> T (p.Pro84=) single nucleotide variant Likely benign rs1060504235 GRCh37 Chromosome 1, 231557383: 231557383
32 EGLN1 NM_022051.2(EGLN1): c.252G> T (p.Pro84=) single nucleotide variant Likely benign rs1060504235 GRCh38 Chromosome 1, 231421637: 231421637
33 EGLN1 NM_022051.2(EGLN1): c.264C> T (p.Ala88=) single nucleotide variant Likely benign rs1060504234 GRCh37 Chromosome 1, 231557371: 231557371
34 EGLN1 NM_022051.2(EGLN1): c.264C> T (p.Ala88=) single nucleotide variant Likely benign rs1060504234 GRCh38 Chromosome 1, 231421625: 231421625
35 EGLN1 NM_022051.2(EGLN1): c.311C> T (p.Ser104Phe) single nucleotide variant Uncertain significance rs551207815 GRCh37 Chromosome 1, 231557324: 231557324
36 EGLN1 NM_022051.2(EGLN1): c.311C> T (p.Ser104Phe) single nucleotide variant Uncertain significance rs551207815 GRCh38 Chromosome 1, 231421578: 231421578
37 EGLN1 NM_022051.2(EGLN1): c.287C> T (p.Ala96Val) single nucleotide variant Uncertain significance rs113401862 GRCh37 Chromosome 1, 231557348: 231557348
38 EGLN1 NM_022051.2(EGLN1): c.287C> T (p.Ala96Val) single nucleotide variant Uncertain significance rs113401862 GRCh38 Chromosome 1, 231421602: 231421602
39 EGLN1 NM_022051.2(EGLN1): c.558G> C (p.Lys186Asn) single nucleotide variant Uncertain significance rs201365992 GRCh37 Chromosome 1, 231557077: 231557077
40 EGLN1 NM_022051.2(EGLN1): c.558G> C (p.Lys186Asn) single nucleotide variant Uncertain significance rs201365992 GRCh38 Chromosome 1, 231421331: 231421331
41 EGLN1 NM_022051.2(EGLN1): c.405C> T (p.Gly135=) single nucleotide variant Uncertain significance rs781566823 GRCh37 Chromosome 1, 231557230: 231557230
42 EGLN1 NM_022051.2(EGLN1): c.405C> T (p.Gly135=) single nucleotide variant Uncertain significance rs781566823 GRCh38 Chromosome 1, 231421484: 231421484
43 EGLN1 NM_022051.2(EGLN1): c.1259C> T (p.Ser420Leu) single nucleotide variant Benign rs147839743 GRCh37 Chromosome 1, 231502179: 231502179
44 EGLN1 NM_022051.2(EGLN1): c.1259C> T (p.Ser420Leu) single nucleotide variant Benign rs147839743 GRCh38 Chromosome 1, 231366433: 231366433
45 EGLN1 NM_022051.2(EGLN1): c.975A> G (p.Thr325=) single nucleotide variant Likely benign rs374733352 GRCh37 Chromosome 1, 231509762: 231509762
46 EGLN1 NM_022051.2(EGLN1): c.975A> G (p.Thr325=) single nucleotide variant Likely benign rs374733352 GRCh38 Chromosome 1, 231374016: 231374016
47 EGLN1 NM_022051.2(EGLN1): c.366G> C (p.Ala122=) single nucleotide variant Likely benign rs1352596858 GRCh37 Chromosome 1, 231557269: 231557269
48 EGLN1 NM_022051.2(EGLN1): c.366G> C (p.Ala122=) single nucleotide variant Likely benign rs1352596858 GRCh38 Chromosome 1, 231421523: 231421523
49 EGLN1 NM_022051.2(EGLN1): c.122_124delACT (p.Tyr41del) deletion Uncertain significance rs1182227189 GRCh38 Chromosome 1, 231421765: 231421767
50 EGLN1 NM_022051.2(EGLN1): c.122_124delACT (p.Tyr41del) deletion Uncertain significance rs1182227189 GRCh37 Chromosome 1, 231557511: 231557513

Expression for Erythrocytosis, Familial, 3

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Pathways for Erythrocytosis, Familial, 3

GO Terms for Erythrocytosis, Familial, 3

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