ECYT5
MCID: ERY063
MIFTS: 18

Erythrocytosis, Familial, 5 (ECYT5)

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

Aliases & Classifications for Erythrocytosis, Familial, 5

MalaCards integrated aliases for Erythrocytosis, Familial, 5:

Name: Erythrocytosis, Familial, 5 57 72 29 6
Ecyt5 57 12 72
Familial Erythrocytosis 5 12

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

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


HPO:

31
erythrocytosis, familial, 5:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0080290
OMIM® 57 617907
OMIM Phenotypic Series 57 PS133100
MeSH 44 D011086
SNOMED-CT via HPO 68 131141003 263681008

Summaries for Erythrocytosis, Familial, 5

OMIM® : 57 Erythrocytosis-5 (ECYT5) is an autosomal dominant disorder 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) (Updated 20-May-2021)

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 : 72 Erythrocytosis, familial, 5: An autosomal dominant disorder characterized by 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:

31
# Description HPO Frequency HPO Source Accession
1 increased hematocrit 31 HP:0001899
2 increased hemoglobin 31 HP:0001900

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Hematology:
increased hematocrit
increased hemoglobin
erythrocytosis
increased red cell mass

Laboratory Abnormalities:
increased serum epo levels

Clinical features from OMIM®:

617907 (Updated 20-May-2021)

Drugs & Therapeutics for Erythrocytosis, Familial, 5

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

Genetic Tests for Erythrocytosis, Familial, 5

Genetic tests related to Erythrocytosis, Familial, 5:

# Genetic test Affiliating Genes
1 Erythrocytosis, Familial, 5 29 EPO

Anatomical Context for Erythrocytosis, Familial, 5

Publications for Erythrocytosis, Familial, 5

Articles related to Erythrocytosis, Familial, 5:

# Title Authors PMID Year
1
A Gain-of-Function Mutation in EPO in Familial Erythrocytosis. 6 57
29514032 2018
2
Gene panel sequencing improves the diagnostic work-up of patients with idiopathic erythrocytosis and identifies new mutations. 6 57
27651169 2016

Variations for Erythrocytosis, Familial, 5

ClinVar genetic disease variations for Erythrocytosis, Familial, 5:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 EPO NM_000799.4(EPO):c.33del (p.Trp11fs) Deletion Pathogenic 496593 rs1554393463 GRCh37: 7:100319199-100319199
GRCh38: 7:100721576-100721576
2 EPO NM_000799.4(EPO):c.20del (p.Pro7fs) Deletion Pathogenic 496594 rs1554393458 GRCh37: 7:100319186-100319186
GRCh38: 7:100721563-100721563

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
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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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