BPGMD
MCID: BSP004
MIFTS: 20

Bisphosphoglycerate Mutase Deficiency (BPGMD)

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

Aliases & Classifications for Bisphosphoglycerate Mutase Deficiency

MalaCards integrated aliases for Bisphosphoglycerate Mutase Deficiency:

Name: Bisphosphoglycerate Mutase Deficiency 57 75 40
Erythrocytosis Due to Bisphosphoglycerate Mutase Deficiency 57 75 13
Diphosphoglycerate Mutase Deficiency of Erythrocyte 57 53 75
Deficiency of Bisphosphoglycerate Mutase 29 6 73
Bisphosphoglyceromutase Deficiency 57 75
Bpgm Deficiency 57 75
Dpgm Deficiency 57 75
Hemolytic Anemia Due to Diphosphoglycerate Mutase Deficiency 59
Bpgmd 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
bisphosphoglycerate mutase deficiency:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 222800
Orphanet 59 ORPHA714
ICD10 via Orphanet 34 D55.2
MedGen 42 C1291620
MeSH 44 D000743
UMLS 73 C1291620

Summaries for Bisphosphoglycerate Mutase Deficiency

UniProtKB/Swiss-Prot : 75 Bisphosphoglycerate mutase deficiency: A disease characterized by hemolytic anemia, splenomegaly, cholelithiasis and cholecystitis.

MalaCards based summary : Bisphosphoglycerate Mutase Deficiency, is also known as erythrocytosis due to bisphosphoglycerate mutase deficiency. An important gene associated with Bisphosphoglycerate Mutase Deficiency is BPGM (Bisphosphoglycerate Mutase). Related phenotypes are splenomegaly and abnormality of metabolism/homeostasis

Description from OMIM: 222800

Related Diseases for Bisphosphoglycerate Mutase Deficiency

Symptoms & Phenotypes for Bisphosphoglycerate Mutase Deficiency

Symptoms via clinical synopsis from OMIM:

57
G I:
splenomegaly
cholelithiasis
cholecystitis

Heme:
normocytic anemia
normochromic anemia
nonspherocytic hemolytic anemia
normal osmotic fragility

Skin:
jaundice

Lab:
diphosphoglycerate mutase deficiency


Clinical features from OMIM:

222800

Human phenotypes related to Bisphosphoglycerate Mutase Deficiency:

32 (show all 8)
# Description HPO Frequency HPO Source Accession
1 splenomegaly 32 HP:0001744
2 abnormality of metabolism/homeostasis 32 HP:0001939
3 cholelithiasis 32 HP:0001081
4 jaundice 32 HP:0000952
5 cholecystitis 32 HP:0001082
6 normocytic anemia 32 HP:0001897
7 normochromic anemia 32 HP:0001895
8 nonspherocytic hemolytic anemia 32 HP:0001930

Drugs & Therapeutics for Bisphosphoglycerate Mutase Deficiency

Search Clinical Trials , NIH Clinical Center for Bisphosphoglycerate Mutase Deficiency

Genetic Tests for Bisphosphoglycerate Mutase Deficiency

Genetic tests related to Bisphosphoglycerate Mutase Deficiency:

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

Anatomical Context for Bisphosphoglycerate Mutase Deficiency

Publications for Bisphosphoglycerate Mutase Deficiency

Articles related to Bisphosphoglycerate Mutase Deficiency:

# 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 Bisphosphoglycerate Mutase Deficiency

UniProtKB/Swiss-Prot genetic disease variations for Bisphosphoglycerate Mutase Deficiency:

75
# 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 Bisphosphoglycerate Mutase Deficiency:

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 Bisphosphoglycerate Mutase Deficiency

Search GEO for disease gene expression data for Bisphosphoglycerate Mutase Deficiency.

Pathways for Bisphosphoglycerate Mutase Deficiency

GO Terms for Bisphosphoglycerate Mutase Deficiency

Sources for Bisphosphoglycerate Mutase Deficiency

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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