ECYT5
MCID: ERY063
MIFTS: 15

Erythrocytosis, Familial, 5 (ECYT5)

Categories: Blood diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Erythrocytosis, Familial, 5

MalaCards integrated aliases for Erythrocytosis, Familial, 5:

Name: Erythrocytosis, Familial, 5 57 75 6
Ecyt5 57 75
Familial Erythrocytosis 5 12

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


Classifications:



External Ids:

OMIM 57 617907
Disease Ontology 12 DOID:0080290
MedGen 42 CN873435
MeSH 44 D011086
SNOMED-CT via HPO 69 131141003

Summaries for Erythrocytosis, Familial, 5

OMIM : 57 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

UniProtKB/Swiss-Prot : 75 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

Symptoms via clinical synopsis from OMIM:

57
Hematology:
increased hematocrit
erythrocytosis
increased hemoglobin
increased red cell mass

Laboratory Abnormalities:
increased serum epo levels


Clinical features from OMIM:

617907

Human phenotypes related to Erythrocytosis, Familial, 5:

32
# Description HPO Frequency HPO Source Accession
1 increased hematocrit 32 HP:0001899
2 increased hemoglobin 32 HP:0001900

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 GRCh38 Chromosome 7, 100721577: 100721577
2 EPO NM_000799.3(EPO): c.33delG (p.Trp11Cysfs) deletion Pathogenic GRCh37 Chromosome 7, 100319200: 100319200
3 EPO NM_000799.3(EPO): c.20delC (p.Pro7Leufs) deletion Pathogenic GRCh37 Chromosome 7, 100319187: 100319187
4 EPO NM_000799.3(EPO): c.20delC (p.Pro7Leufs) deletion Pathogenic 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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