PGK1D
MCID: PHS014
MIFTS: 46

Phosphoglycerate Kinase 1 Deficiency (PGK1D)

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

Aliases & Classifications for Phosphoglycerate Kinase 1 Deficiency

MalaCards integrated aliases for Phosphoglycerate Kinase 1 Deficiency:

Name: Phosphoglycerate Kinase 1 Deficiency 57 12 20 43 72 29 13 6 44 15 70
Pgk1 Deficiency 57 12 20 43 72
Pgk Deficiency 20 43 54
Glycogen Storage Disease Due to Phosphoglycerate Kinase 1 Deficiency 12 58
Glycogenosis Due to Phosphoglycerate Kinase 1 Deficiency 12 58
Gsd Due to Phosphoglycerate Kinase 1 Deficiency 12 58
Deficiency of Phosphoglycerate Kinase 29 70
Phosphoglycerate Kinase Deficiency 20 43
Deficiency, Phosphoglycerate Kinase 1 39
Pgk1d 72

Characteristics:

Orphanet epidemiological data:

58
glycogen storage disease due to phosphoglycerate kinase 1 deficiency
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages;

OMIM®:

57 (Updated 20-May-2021)
Miscellaneous:
highly variable phenotype
variable age at onset (range infancy to adult)
heterozygous females may exhibit variable degrees of enzyme deficiency

Inheritance:
x-linked recessive


HPO:

31
phosphoglycerate kinase 1 deficiency:
Inheritance x-linked recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Inborn errors of metabolism
Rare haematological diseases


Summaries for Phosphoglycerate Kinase 1 Deficiency

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 713 Definition A rare inborn errors of metabolism characterized by variable combinations of non-spherocytic hemolytic anemia, myopathy, and various central nervous system abnormalities. Epidemiology Phosphoglycerate kinase (PGK) deficiency prevalence is unknown but about 30 unrelated affected families have been reported so far. Clinical description The majority of patients present with chronic hemolytic anemia, which may be severe in some cases. Myopathy is a common finding and is characterized by exercise-intolerance, muscle weakness, cramping, myalgia and episodes of myoglobinuria. Rhabdomyolysis has also been reported in a few patients. Intellectual deficit is frequent, and other central nervous system manifestations may be also present including hemiplegic migraines, epilepsy, ataxia and tremor. Only a few patients show all three cardinal features of the disorder (hemolytic anemia, central nervous system abnormalities and myopathy), and several cases of PGK deficiency with myopathy in the absence of hemolytic anemia have been reported. Only one asymptomatic patient has been described with mild PGK deficiency. Etiology PGK deficiency is caused by mutations in the PGK1 gene (Xq13.3) and around 20 different disease-causing variants have been identified so far in affected families. PGK is a key enzyme in the glycolytic pathway catalyzing the conversion of 1,3-bisphosphoglycerate into 3-phosphoglycerate and generating ATP. PGK is a ubiquitous enzyme expressed in all tissues except the testes. Diagnostic methods Diagnosis is made on the basis of the clinical picture, together with biochemical studies revealing low erythrocyte and muscle PGK enzyme activity (below 23% and 25% of normal respectively), and identification of PGK1 gene mutations by molecular analysis. Differential diagnosis The differential diagnosis should include other causes of hereditary non-spherocytic hemolytic anemia. Antenatal diagnosis Molecular prenatal diagnosis is feasible for families of an index case. Genetic counseling PGK deficiency is inherited as an X-linked trait and most of the reported patients were hemizygous males. However, heterozygous females may have a variable degree of hemolytic anemia. All women born to affected men will be carriers (mild manifesting or not) with no male to male transmission. Female carriers have a 50 % risk of an affected male or female carrier with each pregnancy. Management and treatment In patients with severe chronic anemia, regular blood transfusions are required. Splenectomy has been shown to be beneficial in some cases. Prognosis The prognosis is variable, depending on the severity of the anemia and on the presence of the other manifestations.

MalaCards based summary : Phosphoglycerate Kinase 1 Deficiency, also known as pgk1 deficiency, is related to hemolytic anemia and myoglobinuria, acute recurrent, autosomal recessive, and has symptoms including seizures and ataxia. An important gene associated with Phosphoglycerate Kinase 1 Deficiency is PGK1 (Phosphoglycerate Kinase 1), and among its related pathways/superpathways are Carbon metabolism and Cori Cycle. Affiliated tissues include testes, bone marrow and kidney, and related phenotypes are intellectual disability and ataxia

Disease Ontology : 12 A glucose metabolism disease characterized by impaired ability to break down glucose resulting in the variable presentation of hemolytic anemia, myopathy, and neurologic anomalies that has material basis in hemizygous or homozygous mutation in PGK1 on chromosome Xq21.1.

MedlinePlus Genetics : 43 Phosphoglycerate kinase deficiency is a genetic disorder that affects the body's ability to break down the simple sugar glucose, which is the primary energy source for most cells. Researchers have described two major forms of the condition. The most common form is sometimes called the hemolytic form. It is characterized by a condition known as chronic hemolytic anemia, in which red blood cells are broken down (undergo hemolysis) prematurely. Chronic hemolytic anemia can lead to unusually pale skin (pallor), yellowing of the eyes and skin (jaundice), fatigue, shortness of breath, and a rapid heart rate. Some people with the hemolytic form also have symptoms related to abnormal brain function, including intellectual disability, seizures, and stroke.The other form of phosphoglycerate kinase deficiency is often called the myopathic form. It primarily affects muscles, causing progressive weakness, pain, and cramping, particularly with exercise. During exercise, muscle tissue can be broken down, releasing a protein called myoglobin. This protein is processed by the kidneys and released in the urine (myoglobinuria). If untreated, myoglobinuria can lead to kidney failure.Most people with phosphoglycerate kinase deficiency have either the hemolytic form or the myopathic form. However, other combinations of signs and symptoms (such as muscle weakness with neurologic symptoms) have also been reported.

OMIM® : 57 Phosphoglycerate kinase-1 deficiency is an X-linked recessive condition with a highly variable clinical phenotype that includes hemolytic anemia, myopathy, and neurologic involvement. Patients can express 1, 2, or all 3 of these manifestations (Shirakawa et al., 2006). (300653) (Updated 20-May-2021)

UniProtKB/Swiss-Prot : 72 Phosphoglycerate kinase 1 deficiency: A condition with a highly variable clinical phenotype that includes hemolytic anemia, rhabdomyolysis, myopathy and neurologic involvement. Patients can express one or more of these manifestations.

Wikipedia : 73 Phosphoglycerate kinase (EC 2.7.2.3) (PGK 1) is an enzyme that catalyzes the reversible transfer of a... more...

Related Diseases for Phosphoglycerate Kinase 1 Deficiency

Diseases related to Phosphoglycerate Kinase 1 Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 39)
# Related Disease Score Top Affiliating Genes
1 hemolytic anemia 29.7 TPI1 PRKG1 PGK1
2 myoglobinuria, acute recurrent, autosomal recessive 11.2
3 deficiency anemia 10.2
4 myopathy 10.2
5 retinitis pigmentosa 10.1
6 myoglobinuria, recurrent 10.1
7 alacrima, achalasia, and mental retardation syndrome 10.1
8 neuroretinitis 10.1
9 acute kidney failure 10.1
10 retinitis 10.1
11 neuromuscular disease 10.1
12 metabolic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration 10.1
13 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis 10.1
14 testicular torsion 10.1 PGK2 EPPIN
15 inherited metabolic disorder 10.1
16 sexual disorder 10.1 PRKG1 EPPIN
17 impotence 10.0 PRKG1 EPPIN
18 parkinson disease, late-onset 10.0
19 glycogen storage disease v 10.0
20 glycogen storage disease vii 10.0
21 parkinson disease 12 10.0
22 kearns-sayre syndrome 10.0
23 x-linked recessive disease 10.0
24 leukodystrophy 10.0
25 microcephaly 10.0
26 polyneuropathy 10.0
27 neonatal jaundice 10.0
28 glycogen storage disease 10.0
29 dystonia 10.0
30 kidney disease 10.0
31 congenital hemolytic anemia 10.0
32 fundus dystrophy 10.0
33 seizure disorder 10.0
34 inherited retinal disorder 10.0
35 congenital nonspherocytic hemolytic anemia 9.9
36 myoglobinuria 9.9
37 parkinsonism 9.9
38 metabolic myopathy 9.9
39 cornelia de lange syndrome 4 with or without midline brain defects 9.7 RAD21L1 EPPIN CFAP73 C11orf94

Graphical network of the top 20 diseases related to Phosphoglycerate Kinase 1 Deficiency:



Diseases related to Phosphoglycerate Kinase 1 Deficiency

Symptoms & Phenotypes for Phosphoglycerate Kinase 1 Deficiency

Human phenotypes related to Phosphoglycerate Kinase 1 Deficiency:

58 31 (show all 27)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 frequent (33%) Frequent (79-30%) HP:0001249
2 ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0001251
3 tremor 58 31 frequent (33%) Frequent (79-30%) HP:0001337
4 muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0001324
5 global developmental delay 58 31 very rare (1%) Frequent (79-30%) HP:0001263
6 delayed speech and language development 58 31 frequent (33%) Frequent (79-30%) HP:0000750
7 myopathy 58 31 very rare (1%) Frequent (79-30%) HP:0003198
8 hemolytic anemia 58 31 very rare (1%) Frequent (79-30%) HP:0001878
9 migraine 58 31 frequent (33%) Frequent (79-30%) HP:0002076
10 reticulocytosis 58 31 frequent (33%) Frequent (79-30%) HP:0001923
11 hyperbilirubinemia 58 31 frequent (33%) Frequent (79-30%) HP:0002904
12 muscle spasm 58 31 frequent (33%) Frequent (79-30%) HP:0003394
13 exercise-induced muscle fatigue 58 31 frequent (33%) Frequent (79-30%) HP:0009020
14 exercise-induced myalgia 58 31 frequent (33%) Frequent (79-30%) HP:0003738
15 rhabdomyolysis 58 31 frequent (33%) Frequent (79-30%) HP:0003201
16 myoglobinuria 58 31 frequent (33%) Frequent (79-30%) HP:0002913
17 decreased hemoglobin concentration 58 31 frequent (33%) Frequent (79-30%) HP:0020062
18 renal insufficiency 58 31 occasional (7.5%) Occasional (29-5%) HP:0000083
19 retinal dystrophy 58 31 occasional (7.5%) Very rare (<4-1%) HP:0000556
20 visual loss 31 occasional (7.5%) HP:0000572
21 blindness 58 31 very rare (1%) Very rare (<4-1%) HP:0000618
22 emotional lability 31 HP:0000712
23 exercise intolerance 31 HP:0003546
24 abnormality of nervous system physiology 58 Frequent (79-30%)
25 exercise-induced muscle cramps 31 HP:0003710
26 exercise-induced myoglobinuria 31 HP:0008305
27 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
seizures
ataxia
developmental delay
mental retardation
speech delay
more
Laboratory Abnormalities:
increased reticulocyte count
decreased hemoglobin
increased serum bilirubin
myoglobinuria after exertion
decreased activity of phosphoglycerate kinase 1

Head And Neck Eyes:
retinal dystrophy (rare)
loss of vision (rare)

Hematology:
hemolytic anemia in approximately 60% of patients

Muscle Soft Tissue:
exercise intolerance
rhabdomyolysis
muscle cramps with exercise
myopathy in approximately 45% of patients

Neurologic Behavioral Psychiatric Manifestations:
emotional instability

Genitourinary Kidneys:
renal failure may occur with myoglobinuria

Clinical features from OMIM®:

300653 (Updated 20-May-2021)

UMLS symptoms related to Phosphoglycerate Kinase 1 Deficiency:


seizures; ataxia

Drugs & Therapeutics for Phosphoglycerate Kinase 1 Deficiency

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Unrelated Donor Bone Marrow Transplantation for Definitive Treatment of Patients With Phosphoglycerate Kinase (PGK) Deficiency Completed NCT00592540

Search NIH Clinical Center for Phosphoglycerate Kinase 1 Deficiency

Cochrane evidence based reviews: phosphoglycerate kinase 1 deficiency

Genetic Tests for Phosphoglycerate Kinase 1 Deficiency

Genetic tests related to Phosphoglycerate Kinase 1 Deficiency:

# Genetic test Affiliating Genes
1 Phosphoglycerate Kinase 1 Deficiency 29 PGK1
2 Deficiency of Phosphoglycerate Kinase 29

Anatomical Context for Phosphoglycerate Kinase 1 Deficiency

MalaCards organs/tissues related to Phosphoglycerate Kinase 1 Deficiency:

40
Testes, Bone Marrow, Kidney, Bone, Brain

Publications for Phosphoglycerate Kinase 1 Deficiency

Articles related to Phosphoglycerate Kinase 1 Deficiency:

(show top 50) (show all 57)
# Title Authors PMID Year
1
Myopathic form of phosphoglycerate kinase (PGK) deficiency: a new case and pathogenic considerations. 6 57 54
19157875 2009
2
The identification of a recurrent phosphoglycerate kinase mutation associated with chronic haemolytic anaemia and neurological dysfunction in a family from USA. 54 57 6
16740138 2006
3
Molecular defect of a phosphoglycerate kinase variant associated with haemolytic anaemia and neurological disorders in a large kindred. 57 54 6
7577653 1995
4
Intronic mutation in the PGK1 gene may cause recurrent myoglobinuria by aberrant splicing. 6 57
16567715 2006
5
A novel missense mutation (837T-->C) in the phosphoglycerate kinase gene of a patient with a myopathic form of phosphoglycerate kinase deficiency. 57 6
9512313 1998
6
A single amino acid substitution (157 Gly----Val) in a phosphoglycerate kinase variant (PGK Shizuoka) associated with chronic hemolysis and myoglobinuria. 6 57
1547346 1992
7
Molecular abnormality of phosphoglycerate kinase-Uppsala associated with chronic nonspherocytic hemolytic anemia. 57 6
6933565 1980
8
Hereditary hemolytic anemia associated with phosphoglycerate kinase deficiency in erythrocytes and leukocytes. A probable X-chromosome-linked syndrome. 6 57
5764452 1969
9
Identification of new mutations in two phosphoglycerate kinase (PGK) variants expressing different clinical syndromes: PGK Créteil and PGK Amiens. 6 54
8043870 1994
10
Phosphoglycerate kinase deficiency: biochemical and molecular genetic studies in a new myopathic variant (PGK Alberta) 54 57
7679780 1993
11
Genome-wide identification of pseudogenes capable of disease-causing gene conversion. 6
16671097 2006
12
Two new phosphoglycerate kinase mutations associated with chronic haemolytic anaemia and neurological dysfunction in two patients from Spain. 6
16412025 2006
13
A phosphoglycerate kinase mutant (PGK Herlev; D285V) in a Danish patient with isolated chronic hemolytic anemia: mechanism of mutation and structure-function relationships. 6
9744480 1998
14
Molecular abnormality of a phosphoglycerate kinase variant (PGK-Alabama). 6
8673469 1995
15
Phosphoglycerate kinase deficiency. 57
8035953 1994
16
Molecular abnormalities of a phosphoglycerate kinase variant generated by spontaneous mutation. 6
1586722 1992
17
Molecular defect of a phosphoglycerate kinase variant (PGK-Matsue) associated with hemolytic anemia: Leu----Pro substitution caused by T/A----C/G transition in exon 3. 6
2001457 1991
18
Recurrent myoglobinuria in a child with mental retardation: phosphoglycerate kinase deficiency. 57
2715616 1989
19
Phosphoglycerate kinase San Francisco: a new variant associated with hemolytic anemia but not with neuromuscular manifestations. 57
3605066 1987
20
Normal mRNA content in a phosphoglycerate kinase variant with severe enzyme deficiency. 6
3840329 1985
21
Phosphoglycerate kinase deficiency: another cause of recurrent myoglobinuria. 57
6830158 1983
22
A new case of phosphoglycerate kinase deficiency: PGK Creteil associated with rhabdomyolysis and lacking hemolytic anemia. 57
7082849 1982
23
Use of cultured lymphoblastoid cells for the study of abnormal enzymes: molecular abnormality of a phosphoglycerate kinase variant associated with hemolytic anemia. 6
6941312 1981
24
A single amino acid substitution (Asp leads to Asn) in a phosphoglycerate kinase variant (PGK München) associated with enzyme deficiency. 6
7391028 1980
25
Characterization of a phosphoglycerate kinase deficiency variants not associated with hemolytic anemia. 6
6770677 1980
26
Hereditary deficiency of phosphoglycerate kinase: a new variant in erythrocytes and leucocytes, not associated with haemolytic anaemia. 6
411673 1977
27
Phosphoglycerate kinase (PKG) deficiency hereditary nonspherocytic hemolytic anemia: report of a case found in a Japanese family. 6
4676843 1972
28
Red cell phosphoglycerate kinase deficiency. A new cause of non-spherocytic hemolytic anemia. 57
4230542 1968
29
Altered expression of PGK1 in a family with phosphoglycerate kinase deficiency. 61 54
17661373 2007
30
A Novel Missense Variant Associated with A Splicing Defect in A Myopathic Form of PGK1 Deficiency in The Spanish Population. 61
31658606 2019
31
Identification of a novel variant in phosphoglycerate kinase-1 (PGK1) in an African-American child (PGK1 Detroit). 61
31424298 2019
32
Parkinsonism in PGK1 deficiency implicates the glycolytic pathway in nigrostriatal dysfunction. 61
30975619 2019
33
Hyperammonaemia following exercise may also reveal PGK1 deficiency. 61
30918011 2019
34
A Hemizygous Deletion Within the PGK1 Gene in Males with PGK1 Deficiency. 61
30570712 2019
35
Level of residual enzyme activity modulates the phenotype in phosphoglycerate kinase deficiency. 61
30111548 2018
36
Clinical Severity of PGK1 Deficiency Due To a Novel p.E120K Substitution Is Exacerbated by Co-inheritance of a Subclinical Translocation t(3;14)(q26.33;q12), Disrupting NUBPL Gene. 61
25814383 2015
37
Insights into human phosphoglycerate kinase 1 deficiency as a conformational disease from biochemical, biophysical, and in vitro expression analyses. 61
24838780 2014
38
Phosphoglycerate kinase deficiency due to a novel mutation (c. 1180A>G) manifesting as chronic hemolytic anemia in a Japanese boy. 61
24934115 2014
39
pH-dependent relationship between thermodynamic and kinetic stability in the denaturation of human phosphoglycerate kinase 1. 61
24721582 2014
40
Protein Stability, Folding and Misfolding in Human PGK1 Deficiency. 61
24970202 2013
41
Structural and energetic basis of protein kinetic destabilization in human phosphoglycerate kinase 1 deficiency. 61
23336698 2013
42
A new variant of phosphoglycerate kinase deficiency (p.I371K) with multiple tissue involvement: molecular and functional characterization. 61
22705348 2012
43
Molecular insights on pathogenic effects of mutations causing phosphoglycerate kinase deficiency. 61
22348148 2012
44
Myopathy and parkinsonism in phosphoglycerate kinase deficiency. 54
20151463 2010
45
PGK deficiency. 54
17222195 2007
46
Metabolic pathway analysis of enzyme-deficient human red blood cells. 54
15555758 2004
47
Calmodulin binds to and inhibits the activity of phosphoglycerate kinase. 54
15363631 2004
48
A novel missense mutation (1060G --> C) in the phosphoglycerate kinase gene in a Japanese boy with chronic haemolytic anaemia, developmental delay and rhabdomyolysis. 61
12956773 2003
49
Other erythrocyte enzyme deficiencies associated with non-haematological symptoms: phosphoglycerate kinase and phosphofructokinase deficiency. 54
10916683 2000
50
Deficiencies of glycolytic enzymes as a possible cause of hemolytic anemia. 54
10699493 2000

Variations for Phosphoglycerate Kinase 1 Deficiency

ClinVar genetic disease variations for Phosphoglycerate Kinase 1 Deficiency:

6 (show all 20)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PGK1 NM_000291.4(PGK1):c.802G>A (p.Asp268Asn) SNV Pathogenic 9942 rs137852528 GRCh37: X:77378737-77378737
GRCh38: X:78123240-78123240
2 PGK1 NM_000291.4(PGK1):c.617G>C (p.Arg206Pro) SNV Pathogenic 9943 rs137852529 GRCh37: X:77373643-77373643
GRCh38: X:78118146-78118146
3 PGK1 NM_000291.4(PGK1):c.796_798delinsATG (p.Val266Met) Indel Pathogenic 9944 rs431905501 GRCh37: X:77378731-77378733
GRCh38: X:78123234-78123236
4 PGK1 NM_000291.4(PGK1):c.263T>C (p.Leu88Pro) SNV Pathogenic 9946 rs137852531 GRCh37: X:77369387-77369387
GRCh38: X:78113890-78113890
5 PGK1 NM_000291.4(PGK1):c.473G>T (p.Gly158Val) SNV Pathogenic 9947 rs137852532 GRCh37: X:77372864-77372864
GRCh38: X:78117367-78117367
6 PGK1 NM_000291.4(PGK1):c.946T>C (p.Cys316Arg) SNV Pathogenic 9948 rs137852533 GRCh37: X:77380380-77380380
GRCh38: X:78124883-78124883
7 PGK1 NM_000291.4(PGK1):c.571_573AAG[1] (p.Lys192del) Microsatellite Pathogenic 9949 rs431905502 GRCh37: X:77373596-77373598
GRCh38: X:78118099-78118101
8 PGK1 NM_000291.4(PGK1):c.854A>T (p.Asp285Val) SNV Pathogenic 9951 rs137852535 GRCh37: X:77378789-77378789
GRCh38: X:78123292-78123292
9 PGK1 NM_000291.4(PGK1):c.140T>A (p.Ile47Asn) SNV Pathogenic 9952 rs137852536 GRCh37: X:77369264-77369264
GRCh38: X:78113767-78113767
10 PGK1 NM_000291.4(PGK1):c.959G>A (p.Ser320Asn) SNV Pathogenic 9953 rs137852537 GRCh37: X:77380393-77380393
GRCh38: X:78124896-78124896
11 PGK1 NM_000291.4(PGK1):c.491A>T (p.Asp164Val) SNV Pathogenic 9954 rs137852538 GRCh37: X:77372882-77372882
GRCh38: X:78117385-78117385
12 PGK1 NM_000291.4(PGK1):c.756+5G>A SNV Pathogenic 9955 rs431905503 GRCh37: X:77378451-77378451
GRCh38: X:78122954-78122954
13 PGK1 NM_000291.4(PGK1):c.1132A>C (p.Thr378Pro) SNV Pathogenic 9956 rs137852539 GRCh37: X:77380841-77380841
GRCh38: X:78125344-78125344
14 PGK1 NM_000291.4(PGK1):c.758T>C (p.Ile253Thr) SNV Pathogenic/Likely pathogenic 9950 rs137852534 GRCh37: X:77378693-77378693
GRCh38: X:78123196-78123196
15 PGK1 NM_000291.4(PGK1):c.248T>C (p.Val83Ala) SNV Uncertain significance 547849 rs138851144 GRCh37: X:77369372-77369372
GRCh38: X:78113875-78113875
16 PGK1 NM_000291.4(PGK1):c.1072G>A (p.Glu358Lys) SNV Uncertain significance 804040 rs1603398740 GRCh37: X:77380506-77380506
GRCh38: X:78125009-78125009
17 PGK1 NM_000291.4(PGK1):c.892A>G (p.Thr298Ala) SNV Uncertain significance 811321 rs782119990 GRCh37: X:77378827-77378827
GRCh38: X:78123330-78123330
18 PGK1 NM_000291.4(PGK1):c.872A>G (p.Lys291Arg) SNV Uncertain significance 452151 rs1187663822 GRCh37: X:77378807-77378807
GRCh38: X:78123310-78123310
19 PGK1 NM_000291.4(PGK1):c.1234G>A (p.Asp412Asn) SNV Uncertain significance 493535 rs782165735 GRCh37: X:77381307-77381307
GRCh38: X:78125810-78125810
20 PGK1 NM_000291.4(PGK1):c.238C>T (p.Pro80Ser) SNV Likely benign 973436 GRCh37: X:77369362-77369362
GRCh38: X:78113865-78113865

UniProtKB/Swiss-Prot genetic disease variations for Phosphoglycerate Kinase 1 Deficiency:

72
# Symbol AA change Variation ID SNP ID
1 PGK1 p.Leu88Pro VAR_006076 rs137852531
2 PGK1 p.Gly158Val VAR_006077 rs137852532
3 PGK1 p.Asp164Val VAR_006078 rs137852538
4 PGK1 p.Arg206Pro VAR_006080 rs137852529
5 PGK1 p.Glu252Ala VAR_006081
6 PGK1 p.Val266Met VAR_006082 rs431905501
7 PGK1 p.Asp285Val VAR_006084 rs137852535
8 PGK1 p.Asp315Asn VAR_006085
9 PGK1 p.Cys316Arg VAR_006086 rs137852533

Expression for Phosphoglycerate Kinase 1 Deficiency

Search GEO for disease gene expression data for Phosphoglycerate Kinase 1 Deficiency.

Pathways for Phosphoglycerate Kinase 1 Deficiency

Pathways related to Phosphoglycerate Kinase 1 Deficiency according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.46 TPI1 PGK2 PGK1
2 10 TPI1 PGK2 PGK1

GO Terms for Phosphoglycerate Kinase 1 Deficiency

Biological processes related to Phosphoglycerate Kinase 1 Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 canonical glycolysis GO:0061621 9.26 TPI1 PGK1
2 positive regulation of oxidative phosphorylation GO:1903862 9.16 PGK2 PGK1
3 gluconeogenesis GO:0006094 9.13 TPI1 PGK2 PGK1
4 glycolytic process GO:0006096 8.8 TPI1 PGK2 PGK1

Molecular functions related to Phosphoglycerate Kinase 1 Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ADP binding GO:0043531 8.96 PGK2 PGK1
2 phosphoglycerate kinase activity GO:0004618 8.62 PGK2 PGK1

Sources for Phosphoglycerate Kinase 1 Deficiency

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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