BPGMD
MCID: ERY067
MIFTS: 21

Erythrocytosis, Familial, 8 (BPGMD)

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

Aliases & Classifications for Erythrocytosis, Familial, 8

MalaCards integrated aliases for Erythrocytosis, Familial, 8:

Name: Erythrocytosis, Familial, 8 58
Diphosphoglycerate Mutase Deficiency of Erythrocyte 58 54 76
Bisphosphoglycerate Mutase Deficiency 58 76 41
Erythrocytosis Due to Bisphosphoglycerate Mutase Deficiency 76 13
Deficiency of Bisphosphoglycerate Mutase 30 6
Bisphosphoglyceromutase Deficiency 58 76
Bpgm Deficiency 58 76
Dpgm Deficiency 58 76
Hemolytic Anemia Due to Diphosphoglycerate Mutase Deficiency 60
Ecyt8 58
Bpgmd 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
erythrocytosis, familial, 8:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 58 222800
MeSH 45 D000743
ICD10 via Orphanet 35 D55.2
Orphanet 60 ORPHA714
MedGen 43 C1291620

Summaries for Erythrocytosis, Familial, 8

UniProtKB/Swiss-Prot : 76 Bisphosphoglycerate mutase deficiency: A disease characterized by hemolytic anemia, splenomegaly, cholelithiasis and cholecystitis.

MalaCards based summary : Erythrocytosis, Familial, 8, is also known as diphosphoglycerate mutase deficiency of erythrocyte. An important gene associated with Erythrocytosis, Familial, 8 is BPGM (Bisphosphoglycerate Mutase). Related phenotypes are splenomegaly and abnormality of metabolism/homeostasis

Description from OMIM: 222800

Related Diseases for Erythrocytosis, Familial, 8

Symptoms & Phenotypes for Erythrocytosis, Familial, 8

Human phenotypes related to Erythrocytosis, Familial, 8:

33 (show all 8)
# Description HPO Frequency HPO Source Accession
1 splenomegaly 33 HP:0001744
2 abnormality of metabolism/homeostasis 33 HP:0001939
3 cholelithiasis 33 HP:0001081
4 jaundice 33 HP:0000952
5 cholecystitis 33 HP:0001082
6 normocytic anemia 33 HP:0001897
7 normochromic anemia 33 HP:0001895
8 nonspherocytic hemolytic anemia 33 HP:0001930

Symptoms via clinical synopsis from OMIM:

58
Hematology:
erythrocytosis
elevated hematocrit
elevated hemoglobin

Laboratory Abnormalities:
diphosphoglycerate mutase deficiency

Clinical features from OMIM:

222800

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 30 BPGM

Anatomical Context for Erythrocytosis, Familial, 8

Publications for Erythrocytosis, Familial, 8

Articles related to Erythrocytosis, Familial, 8:

# Title Authors Year
1
Erythrocytosis due to bisphosphoglycerate mutase deficiency with concurrent glucose-6-phosphate dehydrogenase (G-6-PD) deficiency. ( 15054810 )
2004
2
Compound heterozygosity in a complete erythrocyte bisphosphoglycerate mutase deficiency. ( 1421379 )
1992

Variations for Erythrocytosis, Familial, 8

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

76
# Symbol AA change Variation ID SNP ID
1 BPGM p.Arg62Gln VAR_065367 rs751972865
2 BPGM p.Arg90Cys VAR_065368 rs121964925

ClinVar genetic disease variations for Erythrocytosis, Familial, 8:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 BPGM NM_199186.2(BPGM): c.268C> T (p.Arg90Cys) single nucleotide variant Pathogenic rs121964925 GRCh37 Chromosome 7, 134346527: 134346527
2 BPGM NM_199186.2(BPGM): c.268C> T (p.Arg90Cys) single nucleotide variant Pathogenic rs121964925 GRCh38 Chromosome 7, 134661775: 134661775
3 BPGM NM_001724.4(BPGM): c.61delC (p.Arg21Valfs) deletion Pathogenic rs786205092 GRCh37 Chromosome 7, 134346320: 134346320
4 BPGM NM_001724.4(BPGM): c.61delC (p.Arg21Valfs) deletion Pathogenic rs786205092 GRCh38 Chromosome 7, 134661568: 134661568

Expression for Erythrocytosis, Familial, 8

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

Pathways for Erythrocytosis, Familial, 8

GO Terms for Erythrocytosis, Familial, 8

Sources for Erythrocytosis, Familial, 8

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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