ECYT5
MCID: ERY063
MIFTS: 16

Erythrocytosis, Familial, 5 (ECYT5)

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

Aliases & Classifications for Erythrocytosis, Familial, 5

MalaCards integrated aliases for Erythrocytosis, Familial, 5:

Name: Erythrocytosis, Familial, 5 58 76 6
Ecyt5 58 76
Familial Erythrocytosis 5 12

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
two unrelated families have been reported (last curated march 2018)


Classifications:



External Ids:

Disease Ontology 12 DOID:0080290
OMIM 58 617907
MeSH 45 D011086
SNOMED-CT via HPO 70 131141003

Summaries for Erythrocytosis, Familial, 5

OMIM : 58 Erythrocytosis-5 is an autosomal dominant clinical condition characterized by increased red cell mass and typically elevated hemoglobin concentration and hematocrit. Some patients have increased serum EPO levels (summary by Zmajkovic et al., 2018). For a general phenotypic description and a discussion of genetic heterogeneity of familial erythrocytosis, see ECYT1 (133100). (617907)

MalaCards based summary : Erythrocytosis, Familial, 5, is also known as ecyt5. An important gene associated with Erythrocytosis, Familial, 5 is EPO (Erythropoietin). Related phenotypes are increased hematocrit and increased hemoglobin

Disease Ontology : 12 A primary polycythemia characterized by autosomal dominant inheritance that has material basis in heterozygous mutation in the EPO gene on chromosome 7q21.

UniProtKB/Swiss-Prot : 76 Erythrocytosis, familial, 5: An autosomal dominant disorder characterized by increased serum red blood cell mass, and elevated serum hemoglobin and hematocrit. Some patients have increased serum erythropoietin levels.

Related Diseases for Erythrocytosis, Familial, 5

Symptoms & Phenotypes for Erythrocytosis, Familial, 5

Human phenotypes related to Erythrocytosis, Familial, 5:

33
# Description HPO Frequency HPO Source Accession
1 increased hematocrit 33 HP:0001899
2 increased hemoglobin 33 HP:0001900

Symptoms via clinical synopsis from OMIM:

58
Hematology:
increased hematocrit
erythrocytosis
increased hemoglobin
increased red cell mass

Laboratory Abnormalities:
increased serum epo levels

Clinical features from OMIM:

617907

Drugs & Therapeutics for Erythrocytosis, Familial, 5

Search Clinical Trials , NIH Clinical Center for Erythrocytosis, Familial, 5

Genetic Tests for Erythrocytosis, Familial, 5

Anatomical Context for Erythrocytosis, Familial, 5

Publications for Erythrocytosis, Familial, 5

Variations for Erythrocytosis, Familial, 5

ClinVar genetic disease variations for Erythrocytosis, Familial, 5:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 EPO NM_000799.3(EPO): c.33delG (p.Trp11Cysfs) deletion Pathogenic rs1554393463 GRCh38 Chromosome 7, 100721577: 100721577
2 EPO NM_000799.3(EPO): c.33delG (p.Trp11Cysfs) deletion Pathogenic rs1554393463 GRCh37 Chromosome 7, 100319200: 100319200
3 EPO NM_000799.3(EPO): c.20delC (p.Pro7Leufs) deletion Pathogenic rs1554393458 GRCh37 Chromosome 7, 100319187: 100319187
4 EPO NM_000799.3(EPO): c.20delC (p.Pro7Leufs) deletion Pathogenic rs1554393458 GRCh38 Chromosome 7, 100721564: 100721564

Expression for Erythrocytosis, Familial, 5

Search GEO for disease gene expression data for Erythrocytosis, Familial, 5.

Pathways for Erythrocytosis, Familial, 5

GO Terms for Erythrocytosis, Familial, 5

Sources for Erythrocytosis, Familial, 5

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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