PKD
MCID: PYR013
MIFTS: 65

Pyruvate Kinase Deficiency (PKD) malady

Genetic diseases, Rare diseases, Blood diseases categories

Summaries for Pyruvate Kinase Deficiency

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22Genetics Home Reference, 44NIH Rare Diseases, 66Wikipedia, 48OMIM, 34MalaCards
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NIH Rare Diseases:44 Pyruvate kinase deficiency is a hereditary blood disorder characterized by low levels of an enzyme called pyruvate kinase, which is used by red blood cells. without pyruvate kinase, red blood cells break down too easily, resulting in low levels of these cells (hemolytic anemia). signs and symptoms include jaundice, enlargement of the spleen, and mild or severe hemolysis (red cell breakdown), leading to anemia. problems may first appear in the newborn as prolonged jaundice and anemia. older children may be pale (due to anemia) and have intermittent episodes of jaundice. mild cases may escape detection until adulthood. pyruvate kinase deficiency is caused by a mutation in the pklr gene and is inherited in an autosomal recessive fashion.  last updated: 7/18/2011

MalaCards: Pyruvate Kinase Deficiency, also known as pyruvate kinase deficiency of erythrocytes, is related to hemolytic anemia and malaria. An important gene associated with Pyruvate Kinase Deficiency is PKLR (pyruvate kinase, liver and RBC), and among its related pathways are Type II diabetes mellitus and Abacavir Pathway, Pharmacokinetics/Pharmacodynamics. The compounds fructose-1,6-bisphosphate and dehydroascorbic acid have been mentioned in the context of this disorder. Affiliated tissues include spleen, testes and liver, and related mouse phenotypes are normal and hematopoietic system.

Genetics Home Reference:22 Pyruvate kinase deficiency is an inherited disorder that affects red blood cells, which carry oxygen to the body's tissues. People with this disorder have a condition known as chronic hemolytic anemia, in which red blood cells are broken down (undergo hemolysis) prematurely, resulting in a shortage of red blood cells (anemia). Specifically, pyruvate kinase deficiency is a common cause of a type of inherited hemolytic anemia called hereditary nonspherocytic hemolytic anemia. In hereditary nonspherocytic hemolytic anemia, the red blood cells do not assume a spherical shape as they do in some other forms of hemolytic anemia.

Wikipedia:66 Pyruvate kinase deficiency, also called erythrocyte pyruvate kinase deficiency, is an inherited... more...

Description from OMIM:48 266200

Aliases & Classifications for Pyruvate Kinase Deficiency

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63UMLS, 22Genetics Home Reference, 44NIH Rare Diseases, 21GeneTests, 23GTR, 48OMIM, 46Novoseek, 50Orphanet, 27ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Blood diseases


Characteristics (Orphanet epidemiological data):

50
pyruvate kinase deficiency of erythrocytes:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000; Age of onset: Neonatal/infancy; Age of death: Any age


Aliases & Descriptions:

pyruvate kinase deficiency 44 21 23 22 48 46
pyruvate kinase deficiency of erythrocytes 44 50
pyruvate kinase deficiency of red cells 44 63
pk deficiency 44 22
hemolytic anemia due to red cell pyruvate kinase deficiency 50
paroxysmal kinesigenic choreoathetosis 63
deficiency of pyruvate kinase 63
pkd 22


External Ids:

OMIM48 266200
ICD10 via Orphanet27 D55.2

Related Diseases for Pyruvate Kinase Deficiency

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18GeneCards, 19GeneDecks
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Diseases related to Pyruvate Kinase Deficiency via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 103)
idRelated DiseaseScoreTop Affiliating Genes
1hemolytic anemia31.6PKLR
2malaria30.9HBA2, G6PD
3polycystic kidney disease30.8EPO, HBA2
4congenital hemolytic anemia30.7PKLR, G6PD, TF
5hemochromatosis30.7TF, HFE
6deficiency anemia30.6GDF15, TF, HBA2, G6PD, EPO, PKLR
7hereditary spherocytosis30.6HFE, G6PD
8leukemia30.5HBA2, EPO, MTHFR, NTRK1, HFE
9sickle cell disease30.4EPO, G6PD, HBA2, TF
10anhidrosis30.4NTRK1
11congenital nonspherocytic hemolytic anemia30.4G6PD, PKLR
12alpha thalassemia30.3HFE, G6PD, HBA2
13thromboembolism30.3G6PD, MTHFR
14myelodysplastic syndromes30.3HFE, EPO, TF
15acute leukemia30.1HBA2, EPO, MTHFR, HFE
16kidney disease10.5
17cystic kidney10.5
18familial paroxysmal kinesigenic dyskinesia10.4
19polycystic kidney disease, autosomal dominant10.3
20polycystic kidney disease, autosomal recessive10.3
21phenylketonuria10.3
22cholelithiasis10.3
23neonatal jaundice10.3
24thalassemia10.3
25hydrops fetalis10.3
26pyruvate kinase deficiency, liver type10.3
27pyruvate kinase deficiency, muscle type10.3
28gaucher's disease10.2
29acute pancreatitis10.2
30infectious mononucleosis10.2
31glycogen storage disease10.2
32hypertension10.2
33myelofibrosis10.2
34myopathy10.2
35osteosclerosis10.2
36pancreatitis10.2
37congenital insensitivity to pain with anhidrosis10.2
38chronic myelomonocytic leukemia10.2
39nonspherocytic hemolytic anemia due to hexokinase deficiency10.2
40hypertriglyceridemia10.2
41polycystic liver disease10.1
42myxozoa10.1
43lysinuric protein intolerance10.1G6PD
44glucosephosphate dehydrogenase deficiency10.1PKLR, G6PD
45erythrocytosis10.1EPO
46histiocytosis-lymphadenopathy plus syndrome10.1HBA2, G6PD
47central retinal vein occlusion10.1MTHFR
48bantu siderosis10.1HFE, TF
49hyperferritinemia cataract syndrome10.1TF, HFE
50iron metabolism disease10.1TF, HFE

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



Diseases related to pyruvate kinase deficiency

Symptoms for Pyruvate Kinase Deficiency

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48OMIM
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Symptoms by clinical synopsis from OMIM:

266200

Clinical features from OMIM:

266200

Drugs & Therapeutics for Pyruvate Kinase Deficiency

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

Search CenterWatch for Pyruvate Kinase Deficiency

Drug clinical trials:

Search ClinicalTrials for Pyruvate Kinase Deficiency

Search NIH Clinical Center for Pyruvate Kinase Deficiency

Search CenterWatch for Pyruvate Kinase Deficiency

Genetic Tests for Pyruvate Kinase Deficiency

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21GeneTests, 23GTR
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Genetic tests related to Pyruvate Kinase Deficiency:

id Genetic test Affiliating Genes
1 Pyruvate Kinase Deficiency21 23 PKLR

Anatomical Context for Pyruvate Kinase Deficiency

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34MalaCards
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MalaCards organs/tissues related to Pyruvate Kinase Deficiency:

34
Spleen, Testes, Liver, Bone marrow, Bone, Spinal cord

Animal Models for Pyruvate Kinase Deficiency or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Pyruvate Kinase Deficiency:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00028738.3HFE, PKM, PKLR, NTRK1, EPO
2MP:00053976.9GDF15, TF, HBA2, G6PD, EPO, NTRK1
3MP:00053786.7GDF15, TF, HBA2, G6PD, MTHFR, NTRK1
4MP:00053766.5GDF15, TF, HBA2, G6PD, EPO, MTHFR
5MP:00107685.8HFE, GDF15, TF, HBA2, G6PD, EPO

Publications for Pyruvate Kinase Deficiency

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53PubMed
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Articles related to Pyruvate Kinase Deficiency:

(show top 50)    (show all 259)
idTitleAuthorsYear
1
Correction: Stem Cell Selection In Vivo Using Foamy Vectors Cures Canine Pyruvate Kinase Deficiency. (24204532)
2013
2
Images in haematology. Paravertebral extramedullary haemopoiesis associated with pyruvate kinase deficiency. (19222474)
2009
3
Rescue of pyruvate kinase deficiency in mice by gene therapy using the human isoenzyme. (19755962)
2009
4
Clinical course of pyruvate kinase deficiency in Abyssinian and Somali cats. (18077199)
2008
5
Sickle cell disease in a carrier with pyruvate kinase deficiency. (19055867)
2008
6
Relative red blood cell enzyme levels as a clue to the diagnosis of pyruvate kinase deficiency. (18726918)
2008
7
Bilirubin cholelithiasis and haemosiderosis in an anaemic pyruvate kinase-deficient Somali cat. (18684151)
2008
8
Pyruvate kinase deficiency associated with severe liver dysfunction in the newborn. (17654506)
2007
9
Severe hypertriglyceridemia in an infant with red cell pyruvate kinase deficiency. (17468529)
2007
10
Moya moya syndrome in a child with pyruvate kinase deficiency and combined prothrombotic factors. (17621533)
2007
11
Red cell pyruvate kinase deficiency: molecular and clinical aspects. (15982340)
2005
12
Pyruvate kinase deficiency in a Somali cat in Australia. (16119420)
2005
13
Myelodysplastic syndrome in a patient with hereditary pyruvate kinase deficiency. (14745438)
2004
14
Modulating erythrocyte chimerism in a mouse model of pyruvate kinase deficiency. (14988153)
2004
15
Disruption of a novel regulatory element in the erythroid-specific promoter of the human PKLR gene causes severe pyruvate kinase deficiency. (12393511)
2003
16
Consequences at mRNA level of the PKLR gene splicing mutations IVS10(+1)G-->C and IVS8(+2)T-->G causing pyruvate kinase deficiency. (12181074)
2002
17
Eight novel mutations and consequences on mRNA and protein level in pyruvate kinase-deficient patients with nonspherocytic hemolytic anemia. (10679942)
2000
18
Prevalence of pyruvate kinase deficiency in northern European population in the north of England. Northern Region Haematologists Group. (11186276)
2000
19
Molecular analysis of 29 pyruvate kinase-deficient patients from central Europe with hereditary hemolytic anemia. (9057665)
1997
20
Prevalence of erythrocyte pyruvate kinase deficiency and normal values of enzyme in a Turkish population. (9017979)
1997
21
Pyruvate kinase deficiency in an alpha-thalassemia family: first case report in Thailand. (9640602)
1997
22
Erythrocyte pyruvate kinase deficiency. The influence of physiologically important metabolites on the function of normal and defective enzymes. (8589802)
1994-1995
23
An autopsy case of pyruvate kinase deficiency anemia associated with severe hemochromatosis. (8180445)
1994
24
Prenatal diagnosis of pyruvate kinase deficiency. (7919353)
1994
25
Concise review: pyruvate kinase deficiency: historical perspective and recent progress of molecular genetics. (8416294)
1993
26
Analysis of pyruvate kinase-deficiency mutations that produce nonspherocytic hemolytic anemia. (8483951)
1993
27
Fetal anaemia due to pyruvate kinase deficiency. (8285758)
1993
28
Diagnosis of pyruvate kinase deficiency in a transfusion-dependent patient with severe hemolytic anemia. (2220762)
1990
29
Erythrocyte pyruvate kinase deficiency. A case of severe congenital hemolytic anemia. (2761512)
1989
30
Pyruvate kinase deficiency and delayed clinical response to recombinant human erythropoietin treatment. (2566852)
1989
31
Neonatal hyperbilirubinemia caused by pyruvate kinase deficiency. (3223347)
1988
32
Iron overload associated with congenital pyruvate kinase deficiency and high dose ascorbic acid ingestion. (3861174)
1985
33
Two cases of pyruvate kinase deficiency: PK 'Kamakura' and PK 'Naniwa'. (4090923)
1985
34
Frequency of erythrocyte pyruvate kinase deficiency in Chinese infants. (3898821)
1985
35
Hemolytic anemia with pyruvate kinase deficiency presenting as paravertebral myelolipoma. (6708396)
1984
36
Spinal cord compression by extramedullary hemopoietic tissue in pyruvate-kinase-deficiency-caused hemolytic anemia. (571550)
1979
37
Hereditary pyruvate kinase deficiency: role of the abnormal enzyme in red cell pathophysiology. (728372)
1978
38
Inherited pyruvate kinase deficiency and normal haematologic values in Australian Basenji dogs. (718554)
1978
39
Acquired pyruvate kinase deficiency. (900864)
1977
40
Inhibition of erythrocyte glycolysis associated with tranylcypromine (MAOinhibitor) administration in rabbits: pyruvate kinase deficiency. (598686)
1977
41
Neutrophil pyruvate kinase deficiency with recurrent staphylococcal infections: first reported case. (4193)
1976
42
Molecular mechanism of erythrocyte pyruvate kinase deficiency. (809344)
1975
43
Erythrocyte enzyme deficiencies. Pyruvate kinase deficiency. (4536359)
1974
44
Erythrocyte pyruvate kinase deficiency in non-spherocytic hemolytic anemia: a system of multiple genetic markers? (5658389)
1968
45
The autohaemolysis test: appraisal of the method for the diagnosis of pyruvate kinase deficiency and the effect of pH and additives. (5644383)
1968
46
Three cases of hemolytic anemia with erythrocyte pyruvate kinase deficiency in Alberta. (5921478)
1966
47
Investigations of the kinetics of red cell pyruvate kinase in normal individuals and in a patient with pyruvate kinase deficiency. (5921190)
1966
48
A CASE OF CONGENITAL ATYPICAL HAEMOLYTIC ANAEMIA WITH PYRUVATE KINASE DEFICIENCY. (14177439)
1964
49
EXTREME HEMOLYSIS AND RED-CELL DISTORTION IN ERYTHROCYTE PYRUVATE KINASE DEFICIENCY. I. MORPHOLOGY, ERYTHROKINETICS AND FAMILY ENZYME STUDIES. (14122798)
1964
50
Haemolytic anaemia due to pyruvate-kinase deficiency. (14016290)
1963

Variations for Pyruvate Kinase Deficiency

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65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Pyruvate Kinase Deficiency:

65 (show all 100)
id Symbol AA change Variation ID SNP ID
1PKLRp.Met107ThrVAR_004028
2PKLRp.Val134AspVAR_004030
3PKLRp.Leu155ProVAR_004031
4PKLRp.Glu172GlnVAR_004032
5PKLRp.Arg163CysVAR_004033
6PKLRp.Gly275ArgVAR_004035
7PKLRp.Asp281AsnVAR_004036
8PKLRp.Phe287ValVAR_004037
9PKLRp.Ile314ThrVAR_004038
10PKLRp.Asp331GluVAR_004039
11PKLRp.Gly332SerVAR_004040
12PKLRp.Ala336SerVAR_004041
13PKLRp.Arg337ProVAR_004042
14PKLRp.Arg337GlnVAR_004043
15PKLRp.Asp339HisVAR_004044
16PKLRp.Gly341AlaVAR_004045
17PKLRp.Ile357ThrVAR_004047
18PKLRp.Arg359CysVAR_004048
19PKLRp.Arg359HisVAR_004049
20PKLRp.Asn361AspVAR_004050
21PKLRp.Val368PheVAR_004051
22PKLRp.Thr384MetVAR_004052
23PKLRp.Ala392ThrVAR_004053
24PKLRp.Asn393LysVAR_004054
25PKLRp.Asn393SerVAR_004055
26PKLRp.Thr408IleVAR_004057
27PKLRp.Gln421LysVAR_004058
28PKLRp.Arg426GlnVAR_004059
29PKLRp.Arg426TrpVAR_004060
30PKLRp.Ala431ThrVAR_004061
31PKLRp.Gly458AspVAR_004062
32PKLRp.Ala459ValVAR_004063
33PKLRp.Val460MetVAR_004064
34PKLRp.Ala468ValVAR_004065
35PKLRp.Arg486TrpVAR_004066rs116100695
36PKLRp.Arg490TrpVAR_004067rs200133000
37PKLRp.Ala495ValVAR_004068
38PKLRp.Arg498CysVAR_004069
39PKLRp.Arg498HisVAR_004070
40PKLRp.Arg510GlnVAR_004071rs113403872
41PKLRp.Arg532GlnVAR_004072
42PKLRp.Arg532TrpVAR_004073
43PKLRp.Val552MetVAR_004074
44PKLRp.Arg559GlyVAR_004075
45PKLRp.Asn566LysVAR_004076
46PKLRp.Ser80ProVAR_011436
47PKLRp.Arg86ProVAR_011437
48PKLRp.Ile90AsnVAR_011438
49PKLRp.Gly95ArgVAR_011439
50PKLRp.Gly111ArgVAR_011440
51PKLRp.Ala115ProVAR_011441
52PKLRp.Ser120PheVAR_011442
53PKLRp.Ser130TyrVAR_011443
54PKLRp.Gly159ValVAR_011444
55PKLRp.Gly222AlaVAR_011445
56PKLRp.Asp293AsnVAR_011446
57PKLRp.Gly263ArgVAR_011447
58PKLRp.Gly263TrpVAR_011448
59PKLRp.Val288LeuVAR_011449
60PKLRp.Ala295ValVAR_011450
61PKLRp.Ile310AsnVAR_011451
62PKLRp.Glu315LysVAR_011452
63PKLRp.Asp331AsnVAR_011453
64PKLRp.Gly341AspVAR_011454
65PKLRp.Ile342PheVAR_011455
66PKLRp.Lys348AsnVAR_011456
67PKLRp.Gly364AspVAR_011458
68PKLRp.Ser376IleVAR_011459
69PKLRp.Glu387GlyVAR_011460
70PKLRp.Asp390AsnVAR_011461
71PKLRp.Ala394AspVAR_011462
72PKLRp.Ala394ValVAR_011463
73PKLRp.Thr408AlaVAR_011464
74PKLRp.Glu427AlaVAR_011465
75PKLRp.Glu427AspVAR_011466
76PKLRp.Thr477AlaVAR_011467
77PKLRp.Ser485PheVAR_011468
78PKLRp.Arg488GlnVAR_011469
79PKLRp.Ala495ThrVAR_011470
80PKLRp.Arg504LeuVAR_011471rs185753709
81PKLRp.Gly511ArgVAR_011472
82PKLRp.Arg531CysVAR_011473
83PKLRp.Ile153ThrVAR_011474
84PKLRp.Ile219ThrVAR_011475
85PKLRp.Val335MetVAR_011476
86PKLRp.Ala352AspVAR_011477
87PKLRp.Arg385TrpVAR_011478
88PKLRp.Ala468GlyVAR_011479
89PKLRp.Arg479HisVAR_011480
90PKLRp.Gly557AlaVAR_011481
91PKLRp.Arg569GlnVAR_011482rs61755431
92PKLRp.Arg40TrpVAR_058467
93PKLRp.Leu73ProVAR_058469
94PKLRp.Ala154ThrVAR_058470
95PKLRp.Arg163LeuVAR_058471
96PKLRp.Gly165ValVAR_058472
97PKLRp.Leu272ValVAR_058473
98PKLRp.Val320LeuVAR_058474
99PKLRp.Gly358GluVAR_058475
100PKLRp.Leu374ProVAR_058476

Clinvar genetic disease variations for Pyruvate Kinase Deficiency:

1 (show all 11)
id Gene Name Type Significance SNP ID Assembly Location
1PKLRPKLR, 1-BP DELdeletionPathogenic
2PKLRNM_000298.5(PKLR): c.487C> T (p.Arg163Cys)single nucleotide variantPathogenicrs118204083GRCh37Chr 1, 155265248: 155265248
3PKLRNM_000298.5(PKLR): c.1151C> T (p.Thr384Met)single nucleotide variantPathogenicrs74315362GRCh37Chr 1, 155263347: 155263347
4PKLRNM_000298.5(PKLR): c.1261C> A (p.Gln421Lys)single nucleotide variantPathogenicrs118204084GRCh37Chr 1, 155263237: 155263237
5PKLRNM_000298.5(PKLR): c.1529G> A (p.Arg510Gln)single nucleotide variantPathogenicrs113403872GRCh37Chr 1, 155261636: 155261636
6PKLRNM_000298.5(PKLR): c.1456C> T (p.Arg486Trp)single nucleotide variantPathogenicrs116100695GRCh37Chr 1, 155261709: 155261709
7PKLRNM_000298.5(PKLR): c.389C> A (p.Ser130Tyr)single nucleotide variantPathogenicrs118204089GRCh37Chr 1, 155265346: 155265346
8PKLRPKLR, -83G-Csingle nucleotide variantPathogenic
9PKLRPKLR, 1318G-Tsingle nucleotide variantPathogenic
10PKLRPKLR, 1269G-Asingle nucleotide variantPathogenic
11PKLRPKLR, 1-BP DEL, 823GdeletionPathogenic

Expression for genes affiliated with Pyruvate Kinase Deficiency

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Pyruvate Kinase Deficiency

Search GEO for disease gene expression data for Pyruvate Kinase Deficiency.

Pathways for genes affiliated with Pyruvate Kinase Deficiency

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Sources:
51PathCards, 39NCBI BioSystems Database, 31KEGG, 52PharmGKB, 56Reactome
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Pathways related to Pyruvate Kinase Deficiency according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.8PKM, PKLR
29.8PKM, PKLR
3
Show member pathways
TCA cycle39
pyruvate decarboxylation to acetyl CoA39
NAD phosphorylation and dephosphorylation39
TCA Cycle39
conversion of glucose to acetyl CoA and entry into the TCA cycle39
9.8PKM, PKLR
4
Show member pathways
methylglyoxal degradation VI39
methylglyoxal degradation I39
9.8PKM, PKLR
5
Show member pathways
9.5G6PD, PKLR, PKM
69.0TF, EPO, PKM
7
Show member pathways
L-serine degradation39
pentose phosphate pathway (oxidative branch)39
formaldehyde oxidation II (glutathione-dependent)39
8.7PKM, PKLR, MTHFR, G6PD
8
Show member pathways
8.2HBA2, G6PD, MTHFR, PKLR, PKM

Compounds for genes affiliated with Pyruvate Kinase Deficiency

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46Novoseek, 12DrugBank, 25HMDB, 30IUPHAR, 52PharmGKB, 3BitterDB, 62Tocris Bioscience
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Compounds related to Pyruvate Kinase Deficiency according to GeneCards/GeneDecks:

(show top 50)    (show all 63)
idCompoundScoreTop Affiliating Genes
1fructose-1,6-bisphosphate4610.1PKM, G6PD
2dehydroascorbic acid46 1210.9G6PD, TF
3fumarate46 1210.8G6PD, EPO
4cellulose acetate469.8PKM, G6PD, HBA2
5ferric gluconate469.7TF, EPO
6recormon469.7TF, EPO
7iron sucrose469.7TF, EPO
8deferiprone469.7TF, EPO
9aluminium46 1210.7EPO, TF
10iron dextran46 1210.7EPO, TF
11tocopherol469.7G6PD, TF
12nandrolone decanoate46 1210.7EPO, TF
13succinylacetone469.7EPO, TF
14fenton469.7EPO, TF
15starch469.6TF, G6PD
16protoporphyrin ix46 25 1211.6EPO, TF
17triamcinolone acetonide46 3010.6EPO, TF
18chi 2469.5HFE, MTHFR
1923-diphosphoglycerate469.5EPO, G6PD, HBA2
20pyruvate469.5G6PD, PKLR, PKM, HFE
21zinc protoporphyrin469.5TF, G6PD, EPO
22fe2+469.4HFE, TF
23phenylalanine469.4NTRK1, PKLR, PKM
24ribavirin46 52 1211.4EPO, G6PD, TF
25agar469.4GDF15, TF, G6PD
26uric acid46 2510.3HFE, MTHFR, G6PD
27valine469.2HBA2, G6PD, MTHFR
28alpha tocopherol469.2MTHFR, G6PD, TF
29cyclophosphamide46 52 1211.1MTHFR, G6PD, TF
30tamoxifen46 52 30 1212.1NTRK1, G6PD, TF
31azathioprine46 3 52 1212.1G6PD, EPO, MTHFR
32aspirin46 52 30 2512.0NTRK1, MTHFR, G6PD
33oligonucleotide469.0GDF15, HBA2, NTRK1, HFE
34choline46 25 1210.9TF, MTHFR, NTRK1
35atp46 309.9HBA2, G6PD, NTRK1, PKLR, PKM
36methotrexate52 46 1210.7TF, EPO, MTHFR
37vitamin b12468.6TF, G6PD, EPO, MTHFR
38folate468.6TF, G6PD, EPO, MTHFR
39oxygen46 259.6HBA2, G6PD, EPO, NTRK1, PKM
40butyrate468.6NTRK1, EPO, HBA2
41lactate468.6TF, G6PD, EPO, NTRK1, PKM
42iron46 259.5GDF15, TF, HBA2, EPO, HFE
43ascorbic acid46 259.2TF, G6PD, EPO, MTHFR, HFE
44tyrosine468.2HBA2, EPO, NTRK1, PKLR, PKM, HFE
45serine468.2GDF15, G6PD, MTHFR, NTRK1, PKLR, PKM
46testosterone46 62 25 1211.2G6PD, EPO, MTHFR, NTRK1, HFE
47creatinine468.1NTRK1, MTHFR, EPO, G6PD, TF
48estrogen467.9GDF15, TF, G6PD, MTHFR, NTRK1, HFE
49alanine467.8HFE, PKM, NTRK1, MTHFR, HBA2, TF
50aspartate467.7HFE, NTRK1, MTHFR, EPO, G6PD, TF

GO Terms for genes affiliated with Pyruvate Kinase Deficiency

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17Gene Ontology
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Cellular components related to Pyruvate Kinase Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1basal part of cellGO:0451789.6HFE, TF
2recycling endosomeGO:0550379.5HFE, TF
3early endosomeGO:0057699.0HFE, NTRK1, TF
4cell surfaceGO:0099868.5NTRK1, EPO, TF
5extracellular vesicular exosomeGO:0700628.4TF, HBA2, G6PD, PKLR, PKM

Biological processes related to Pyruvate Kinase Deficiency according to GeneCards/GeneDecks:

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1erythrocyte maturationGO:0432499.8EPO, G6PD
2glycolytic processGO:0060969.7PKLR, PKM
3cellular iron ion homeostasisGO:0068799.5HFE, TF
4positive regulation of Ras protein signal transductionGO:0465799.5NTRK1, EPO
5response to electrical stimulusGO:0516029.5NTRK1, EPO
6response to axon injuryGO:0486789.4EPO, NTRK1
7carbohydrate metabolic processGO:0059759.2PKM, PKLR, G6PD
8response to interleukin-1GO:0705559.1MTHFR, EPO
9blood circulationGO:0080159.0MTHFR, EPO
10small molecule metabolic processGO:0442818.4HBA2, G6PD, MTHFR, PKLR, PKM

Molecular functions related to Pyruvate Kinase Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1pyruvate kinase activityGO:0047439.8PKM, PKLR
2potassium ion bindingGO:0309559.7PKM, PKLR
3NADP bindingGO:0506619.0MTHFR, G6PD
4protein bindingGO:0055157.3HBA2, G6PD, EPO, NTRK1, PKM, HFE

Products for genes affiliated with Pyruvate Kinase Deficiency

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Pyruvate Kinase Deficiency

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet