ECYT8
MCID: ERY067
MIFTS: 34

Erythrocytosis, Familial, 8 (ECYT8)

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

Aliases & Classifications for Erythrocytosis, Familial, 8

MalaCards integrated aliases for Erythrocytosis, Familial, 8:

Name: Erythrocytosis, Familial, 8 57 72
Diphosphoglycerate Mutase Deficiency of Erythrocyte 57 12 20 72
Deficiency of Bisphosphoglycerate Mutase 29 6 70
Bisphosphoglycerate Mutase Deficiency 57 12 72
Bisphosphoglyceromutase Deficiency 57 12 72
Bpgm Deficiency 57 12 72
Dpgm Deficiency 57 12 72
Ecyt8 57 12 72
Hemolytic Anemia Due to Diphosphoglycerate Mutase Deficiency 12 58
Erythrocytosis Due to Bisphosphoglycerate Mutase Deficiency 72 13
Familial Erythrocytosis 8 12 15
Erythrocytosis, Familial, Type 8 39

Characteristics:

OMIM®:

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


HPO:

31
erythrocytosis, familial, 8:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Inborn errors of metabolism
Rare haematological diseases


External Ids:

Disease Ontology 12 DOID:0111630
OMIM® 57 222800
MeSH 44 D000743
ICD10 via Orphanet 33 D55.2
Orphanet 58 ORPHA714
MedGen 41 C1291620
UMLS 70 C1291620

Summaries for Erythrocytosis, Familial, 8

UniProtKB/Swiss-Prot : 72 Erythrocytosis, familial, 8: An autosomal recessive disorder characterized by elevated serum hemoglobin and hematocrit, and biphosphoglycerate mutase deficiency. ECYT8 affected individuals manifest hemolytic anemia and splenomegaly.

MalaCards based summary : Erythrocytosis, Familial, 8, also known as diphosphoglycerate mutase deficiency of erythrocyte, is related to deficiency anemia and malaria. An important gene associated with Erythrocytosis, Familial, 8 is BPGM (Bisphosphoglycerate Mutase), and among its related pathways/superpathways are Pathways in cancer and Development EPO-induced Jak-STAT pathway. Related phenotypes are splenomegaly and cholelithiasis

Disease Ontology : 12 A primary polycythemia characterized by erythrocytosis and in some cases hemolytic anemia that has material basis in homozygous or compound heterozygous mutation in BPGM on chromosome 7q33.

More information from OMIM: 222800

Related Diseases for Erythrocytosis, Familial, 8

Graphical network of the top 20 diseases related to Erythrocytosis, Familial, 8:



Diseases related to Erythrocytosis, Familial, 8

Symptoms & Phenotypes for Erythrocytosis, Familial, 8

Human phenotypes related to Erythrocytosis, Familial, 8:

31 (show all 9)
# Description HPO Frequency HPO Source Accession
1 splenomegaly 31 HP:0001744
2 cholelithiasis 31 HP:0001081
3 jaundice 31 HP:0000952
4 cholecystitis 31 HP:0001082
5 polycythemia 31 HP:0001901
6 abnormality of metabolism/homeostasis 31 HP:0001939
7 normocytic anemia 31 HP:0001897
8 normochromic anemia 31 HP:0001895
9 nonspherocytic hemolytic anemia 31 HP:0001930

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Hematology:
erythrocytosis
elevated hematocrit
elevated hemoglobin

Laboratory Abnormalities:
diphosphoglycerate mutase deficiency

Clinical features from OMIM®:

222800 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Erythrocytosis, Familial, 8:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 liver/biliary system MP:0005370 9.26 CYGB EGLN1 EPOR JAK2
2 respiratory system MP:0005388 8.92 CYGB EGLN1 EPOR JAK2

Drugs & Therapeutics for Erythrocytosis, Familial, 8

Search Clinical Trials , NIH Clinical Center for Erythrocytosis, Familial, 8

Genetic Tests for Erythrocytosis, Familial, 8

Genetic tests related to Erythrocytosis, Familial, 8:

# Genetic test Affiliating Genes
1 Deficiency of Bisphosphoglycerate Mutase 29 BPGM

Anatomical Context for Erythrocytosis, Familial, 8

Publications for Erythrocytosis, Familial, 8

Articles related to Erythrocytosis, Familial, 8:

(show all 12)
# Title Authors PMID Year
1
Erythrocytosis associated with a novel missense mutation in the BPGM gene. 6 57
25015942 2014
2
Erythrocytosis due to bisphosphoglycerate mutase deficiency with concurrent glucose-6-phosphate dehydrogenase (G-6-PD) deficiency. 6 57
15054810 2004
3
Compound heterozygosity in a complete erythrocyte bisphosphoglycerate mutase deficiency. 6 57
1421379 1992
4
Isolation, characterization, and structure of a mutant 89 Arg----Cys bisphosphoglycerate mutase. Implication of the active site in the mutation. 6 57
2542247 1989
5
The first case of a complete deficiency of diphosphoglycerate mutase in human erythrocytes. 6 57
152321 1978
6
[Diphosphoglyceromutase deficiency: new cases associated with erythrocytosis]. 57 61
6326048 1984
7
Gene panel sequencing improves the diagnostic work-up of patients with idiopathic erythrocytosis and identifies new mutations. 57
27651169 2016
8
An alternate method for demonstration of bisphosphoglyceromutase (DPGM) on starch gels. 57
6295140 1982
9
Diphosphoglycerate mutase and 2,3-diphosphoglycerate phosphatase activities of red cells: comparative electrophoretic study. 57
4350060 1973
10
Familial diphosphoglyceratemutase deficiency. Influence on the oxygen affinity curves of hemoglobin. 57
11947623 1970
11
[Congenital non-spherocytic hemolytic anemia by 2,3-diphosphoglycerate mutase deficiency of the erythrocytes in early infancy]. 57
5885535 1965
12
STUDIES IN CONGENITAL NON-SPHEROCYTIC HAEMOLYTIC ANAEMIAS WITH SPECIFIC ENZYME DEFECTS. 57
14131784 1964

Variations for Erythrocytosis, Familial, 8

ClinVar genetic disease variations for Erythrocytosis, Familial, 8:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 BPGM NM_001724.5(BPGM):c.61del (p.Arg21fs) Deletion Pathogenic 12092 rs786205092 GRCh37: 7:134346319-134346319
GRCh38: 7:134661567-134661567
2 BPGM NM_001724.5(BPGM):c.185G>A (p.Arg62Gln) SNV Pathogenic 973177 GRCh37: 7:134346444-134346444
GRCh38: 7:134661692-134661692
3 BPGM NM_001724.5(BPGM):c.269G>A (p.Arg90His) SNV Pathogenic 973178 GRCh37: 7:134346528-134346528
GRCh38: 7:134661776-134661776
4 BPGM NM_001724.5(BPGM):c.258dup (p.Leu87fs) Duplication Pathogenic 998229 GRCh37: 7:134346516-134346517
GRCh38: 7:134661764-134661765
5 BPGM NM_001724.5(BPGM):c.268C>T (p.Arg90Cys) SNV Pathogenic 12091 rs121964925 GRCh37: 7:134346527-134346527
GRCh38: 7:134661775-134661775

UniProtKB/Swiss-Prot genetic disease variations for Erythrocytosis, Familial, 8:

72
# Symbol AA change Variation ID SNP ID
1 BPGM p.Arg62Gln VAR_065367 rs751972865
2 BPGM p.Arg90Cys VAR_065368 rs121964925

Expression for Erythrocytosis, Familial, 8

Search GEO for disease gene expression data for Erythrocytosis, Familial, 8.

Pathways for Erythrocytosis, Familial, 8

Pathways related to Erythrocytosis, Familial, 8 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.86 JAK2 EPOR EGLN1
2
Show member pathways
11.14 JAK2 EPOR
3
Show member pathways
10.27 JAK2 EPOR

GO Terms for Erythrocytosis, Familial, 8

Biological processes related to Erythrocytosis, Familial, 8 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 response to oxidative stress GO:0006979 9.16 JAK2 CYGB
2 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 8.96 JAK2 EPOR
3 positive regulation of Ras protein signal transduction GO:0046579 8.62 JAK2 EPOR

Sources for Erythrocytosis, Familial, 8

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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