PKD
MCID: PYR013
MIFTS: 54

Pyruvate Kinase Deficiency (PKD) malady

Metabolic, Blood categories

Summaries for Pyruvate Kinase Deficiency

Sources:
21Genetics Home Reference, 43NIH Rare Diseases, 64Wikipedia, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 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 deficiency anemia and hemochromatosis. An important gene associated with Pyruvate Kinase Deficiency is PKLR (pyruvate kinase, liver and RBC), and among its related pathways are Abacavir Pathway, Pharmacokinetics/Pharmacodynamics and Glucose / Energy Metabolism. The compounds estrogen and butyrate have been mentioned in the context of this disorder. Affiliated tissues include bone marrow, spleen and spinal cord, and related mouse phenotypes are growth/size and normal.

Genetics Home Reference:21 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:64 Pyruvate kinase deficiency, also called erythrocyte pyruvate kinase deficiency, is an inherited... more...

Description from OMIM:47 266200

Aliases & Classifications for Pyruvate Kinase Deficiency

Sources:
61UMLS, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 47OMIM, 45Novoseek, 49Orphanet, 26ICD10 via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Metabolic, Blood


Characteristics (Orphanet epidemiological data):

49
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 43 20 22 21 47 45
pyruvate kinase deficiency of erythrocytes 43 49
pyruvate kinase deficiency of red cells 43 61
pk deficiency 43 21
hemolytic anemia due to red cell pyruvate kinase deficiency 49
paroxysmal kinesigenic choreoathetosis 61
deficiency of pyruvate kinase 61
pkd 21


External Ids:

OMIM47 266200
ICD10 via Orphanet26 D55.2

Related Diseases for Pyruvate Kinase Deficiency

Sources:
17GeneCards, 18GeneDecks
See all sources

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

(show top 50)    (show all 150)
idRelated DiseaseScoreTop Affiliating Genes
1deficiency anemia31.4G6PD, TF, PKLR, HFE, EPO, HBA2
2hemochromatosis30.6HFE, TF
3polycystic kidney disease30.5HBA2, EPO
4hydrops fetalis30.4HBA2
5hereditary spherocytosis30.4G6PD, HFE
6iron deficiency anemia30.4G6PD, TF, HFE, EPO
7acute leukemia30.4MTHFR, HFE, EPO, HBA2
8thalassemia30.4G6PD, TF, HFE, EPO, HBA2
9sickle cell disease30.4G6PD, TF, ANXA5, EPO, HBA2
10anhidrosis30.2NTRK1
11congenital nonspherocytic hemolytic anemia30.2G6PD, PKLR
12alpha thalassemia30.2G6PD, HFE, HBA2
13paroxysmal choreoathetosis11.1
14b cell deficiency10.7
15t cell deficiency10.6
16familial paroxysmal kinesigenic dyskinesia10.6
17hypoparathyroidism10.5
18dystonia 1010.5
19episodic kinesigenic dyskinesia 110.5
20myelitis10.3
21becker muscular dystrophy10.3
22familial paroxysmal nonkinesigenic dyskinesia10.3
23polycystic kidney disease, autosomal recessive10.3
24convulsions, benign familial infantile, 110.3
25infantile convulsions and paroxysmal choreoathetosis, familial10.3
26polycystic kidney disease, type 110.3
27polycystic kidney disease, type 210.3
28polycystic kidney disease, autosomal dominant10.3
29phenylketonuria10.3
30cholelithiasis10.3
31phosphoglycerate kinase deficiency10.3
32pyruvate kinase deficiency, liver type10.3
33pyruvate kinase deficiency, muscle type10.3
34riboflavin deficiency10.3
35acute pancreatitis10.2
36gaucher's disease10.2
37infectious mononucleosis10.2
38adenosine deaminase deficiency10.2
39n syndrome10.2
40chronic myelomonocytic leukemia10.2
41nonspherocytic hemolytic anemia due to hexokinase deficiency10.2
42thalassemia minor10.2
43hypertriglyceridemia10.2
44polycystic liver disease10.1
45myxozoa10.1
46hemoglobinuria10.0G6PD
47prostatitis10.0GDF15
48obesity10.0HFE
49hepatitis10.0HFE
50hepatitis b10.0HFE

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



Diseases related to pyruvate kinase deficiency

Clinical Features for Pyruvate Kinase Deficiency

Sources:
47OMIM
See all sources

Clinical features from OMIM:

266200

Clinical synopsis from OMIM:

266200

Drugs & Therapeutics for Pyruvate Kinase Deficiency

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

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

Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Pyruvate Kinase Deficiency:

id Genetic test Affiliating Genes
1 Pyruvate Kinase Deficiency20 22 PKLR

Anatomical Context for Pyruvate Kinase Deficiency

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Pyruvate Kinase Deficiency:

33
Bone marrow, Spleen, Spinal cord, Liver, T cells, Fetal liver

Animal Models for Pyruvate Kinase Deficiency or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Pyruvate Kinase Deficiency:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053787.6TF, MTHFR, HFE, NTRK1, HBA2, GDF15
2MP:00028737.6PKLR, HFE, NTRK1, ANXA5, EPO, GDF15
3MP:00053976.9G6PD, TF, PRDX1, PKLR, HFE, NTRK1
4MP:00053766.3G6PD, TF, MTHFR, PRDX1, PKLR, HFE
5MP:00107686.1HBA2, G6PD, TF, MTHFR, PRDX1, PKLR

Publications for Pyruvate Kinase Deficiency

Sources:
51PubMed
See all sources

Articles related to Pyruvate Kinase Deficiency:

(show top 50)    (show all 254)
idTitleAuthorsYear
1
Erythrocyte pyruvate kinase deficiency in an old-order Amish cohort: longitudinal risk and disease management. (21815188)
2011
2
Images in haematology. Paravertebral extramedullary haemopoiesis associated with pyruvate kinase deficiency. (19222474)
2009
3
Idiopathic pulmonary arterial hypertension in a patient with pyruvate kinase deficiency and paravertebral extramedullary hematopoiesis. (19039535)
2009
4
Erythrocytic pyruvate kinase deficiency and AB blood types in Australian Abyssinian and Somali cats. (19178476)
2009
5
Clinical course of pyruvate kinase deficiency in Abyssinian and Somali cats. (18077199)
2008
6
Pyruvate kinase deficiency associated with severe liver dysfunction in the newborn. (17654506)
2007
7
Moya moya syndrome in a child with pyruvate kinase deficiency and combined prothrombotic factors. (17621533)
2007
8
Pyruvate kinase deficiency complicating pregnancy. (17267892)
2007
9
Red cell pyruvate kinase deficiency: molecular and clinical aspects. (15982340)
2005
10
Paravertebral extramedullary hematopoiesis due to pyruvate kinase deficiency. (16266923)
2005
11
Ex vivo analysis of aberrant splicing induced by two donor site mutations in PKLR of a patient with severe pyruvate kinase deficiency. (15059150)
2004
12
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
13
Iron status and HFE genotype in erythrocyte pyruvate kinase deficiency: study of Italian cases. (11482880)
2001
14
Pyruvate kinase deficiency: prevalence of the 1456C-->T mutation in the Portuguese population. (11846742)
2001
15
Congenital insensitivity to pain with anhidrosis (CIPA): novel mutations of the TRKA (NTRK1) gene, a putative uniparental disomy, and a linkage of the mutant TRKA and PKLR genes in a family with CIPA and pyruvate kinase deficiency. (11668614)
2001
16
A new sickle cell disease phenotype associating Hb S trait, severe pyruvate kinase deficiency (PK Conakry), and an alpha-2 globin gene variant (Hb Conakry). (9886305)
1998
17
Six previously undescribed pyruvate kinase mutations causing enzyme deficiency. (9657767)
1998
18
Failure of partial splenectomy to ameliorate the anemia of pyruvate kinase deficiency. (9126776)
1997
19
Mutations in the R-type pyruvate kinase gene and altered enzyme kinetic properties in patients with hemolytic anemia due to pyruvate kinase deficiency. (7948315)
1994
20
Molecular abnormality of erythrocyte pyruvate kinase deficiency in the Amish. (8161798)
1994
21
The molecular basis of canine pyruvate kinase deficiency. (7520391)
1994
22
Fetal anaemia due to pyruvate kinase deficiency. (8285758)
1993
23
A modified screening procedure to detect pyruvate kinase deficiency. (8438786)
1993
24
Hemochromatosis and pyruvate kinase deficiency. Report of a case and review of the literature. (2049467)
1991
25
Point mutations in the L-type pyruvate kinase gene of two children with hemolytic anemia caused by pyruvate kinase deficiency. (2018831)
1991
26
Pyruvate kinase deficiency. (2197027)
1990
27
Neonatal hyperbilirubinemia caused by pyruvate kinase deficiency. (3223347)
1988
28
Pyruvate kinase deficiency. (3328943)
1987
29
Pyruvate kinase deficiency in dog and human erythrocytes: effects of energy depletion on cation composition and cellular hydration. (3766523)
1986
30
Iron overload associated with congenital pyruvate kinase deficiency and high dose ascorbic acid ingestion. (6597712)
1984
31
Pyruvate kinase deficiency: characterization of two new genetic variants. (7151276)
1982
32
Hemolytic anemia and pyruvate kinase deficiency in pregnancy. (7360448)
1980
33
Red cell pyruvate kinase deficiency: an optimised assay. (7449136)
1980
34
Animal model of human disease: pyruvate kinase deficiency. (426042)
1979
35
Inherited pyruvate kinase deficiency and normal haematologic values in Australian Basenji dogs. (718554)
1978
36
Erythrocyte populations in pyruvate kinase deficiency anaemia following splenectomy. II. Cell deformability. (666978)
1978
37
Inhibition of erythrocyte glycolysis associated with tranylcypromine (MAOinhibitor) administration in rabbits: pyruvate kinase deficiency. (598686)
1977
38
A Spanish family with erythrocyte pyruvate kinase deficiency: contribution of various immunologic methods in the study of the mutant enzyme. (403035)
1977
39
Heterogeneity of erythrocyte pyruvate kinase deficiency and related metabolic disorders in patients with hematological diseases. (18306)
1977
40
Acquired red cell pyruvate kinase deficiency in leukemias and related disorders. (1056309)
1975
41
A new variant of red blood cell pyruvate kinase deficiency. (5010308)
1972
42
Familial haemolytic anaemia due to pyruvate kinase deficiency. (5559126)
1971
43
The polymorphism of nucleosid effect in pyruvate kinase deficiency. (5451691)
1970
44
Splenic macrophage interaction with red cells in pyruvate kinase deficiency and hereditary spherocytosis. (5488667)
1970
45
Neonatal hemolysis due to a transient severity of inherited pyruvate kinase deficiency. (4975044)
1968
46
Life-span and organ sequestration of the red cells in pyruvate kinase deficiency. (5634483)
1968
47
A case of haemolytic anaemia due to pyruvate kinase deficiency. (6031894)
1967
48
Investigations of the kinetics of red cell pyruvate kinase in normal individuals and in a patient with pyruvate kinase deficiency. (5921190)
1966
49
A series of new screening procedures for pyruvate kinase deficiency, glucose-6-phosphate dehydrogenase deficiency, and glutathione reductase deficiency. (5923607)
1966
50
HEREDITARY NON-SPHEROCYTIC HAEMOLYTIC ANAEMIA. A STUDY OF RED-CELL CARBOHYDRATE METABOLISM IN TWELVE CASES OF PYRUVATE-KINASE DEFICIENCY. (14179493)
1964

Genetic Variations for Pyruvate Kinase Deficiency

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Pyruvate Kinase Deficiency:

63 (show all 100)
id Symbol AA change Variation 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

Expression for genes affiliated with Pyruvate Kinase Deficiency

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
50PharmGKB, 4Cell Signaling Technology, 30KEGG, 38NCBI BioSystems Database
See all sources

Pathways related to Pyruvate Kinase Deficiency according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.9PKM, PKLR
29.4PKM, PRDX1, G6PD
3
Hide members
9.0PKM, PKLR, MTHFR, G6PD
48.9MTHFR, PRDX1, HBA2
58.8EPO, PKM, TF

Compounds for genes affiliated with Pyruvate Kinase Deficiency

Sources:
45Novoseek, 11DrugBank, 24HMDB, 50PharmGKB, 29IUPHAR, 2BitterDB, 60Tocris Bioscience
See all sources

Compounds related to Pyruvate Kinase Deficiency according to GeneCards/GeneDecks:

(show top 50)    (show all 57)
idCompoundScoreTop Affiliating Genes
1estrogen4510.6GDF15
2butyrate4510.4HBA2
3glucose4510.4PKM
4fructose-1,6-bisphosphate4510.1PKM, G6PD
5cellulose acetate459.9HBA2, PKM, G6PD
6dehydroascorbic acid45 1110.7G6PD, TF
7chi 2459.7HFE, MTHFR
8ethidium bromide459.6G6PD, TF, ANXA5
9uric acid45 2410.6HFE, MTHFR, G6PD
10recormon459.6EPO, TF
11ferric gluconate459.6EPO, TF
12deferiprone459.5TF, EPO
13iron sucrose459.5TF, EPO
14serine459.5G6PD, PRDX1, PKLR, PKM
15aluminium45 1110.5EPO, TF
16iron dextran45 1110.5TF, EPO
17nandrolone decanoate45 1110.5EPO, TF
18carbohydrates459.5ANXA5, PKLR, TF
19succinylacetone459.4EPO, TF
2023-diphosphoglycerate459.4HBA2, EPO, G6PD
21alpha tocopherol459.4MTHFR, TF, G6PD
22zinc protoporphyrin459.3G6PD, TF, EPO
23fumarate45 1110.3G6PD, EPO
24betacarotene459.2ANXA5, MTHFR, TF
25ribavirin45 50 1111.2EPO, TF, G6PD
26pyruvate459.2G6PD, PRDX1, PKLR, PKM, HFE
27cyclophosphamide45 50 1111.2MTHFR, TF, G6PD
28triamcinolone acetonide45 2910.1EPO, TF
29cytarabine45 50 1111.1NTRK1, ANXA5, EPO
30choline45 11 2411.1NTRK1, MTHFR, TF
31azathioprine45 50 2 1112.1EPO, MTHFR, G6PD
32mitomycin c459.0TF, ANXA5, EPO
33ly294002458.8NTRK1, ANXA5, EPO, GDF15
34protoporphyrin ix45 11 2410.8EPO, TF
35imatinib45 50 1110.8EPO, ANXA5, NTRK1
36atp45 299.8G6PD, PKLR, PKM, NTRK1, ANXA5, HBA2
37vitamin b12458.7G6PD, TF, MTHFR, EPO
38folate458.6EPO, MTHFR, TF, G6PD
39cisplatin45 50 60 1111.6G6PD, MTHFR, ANXA5, EPO
40iron45 249.5TF, HFE, EPO, HBA2, GDF15
41testosterone45 60 11 2411.4G6PD, MTHFR, HFE, NTRK1, EPO
42thymidine45 249.4MTHFR, ANXA5, EPO, HBA2
43cyclosporin a45 29 6010.3EPO, ANXA5, MTHFR, TF
44alanine458.3TF, MTHFR, PKM, HFE, NTRK1, HBA2
45oxygen45 249.3HBA2, EPO, ANXA5, NTRK1, PRDX1
46lactate458.2G6PD, TF, PKM, NTRK1, ANXA5, EPO
47aspartate457.9G6PD, TF, MTHFR, HFE, NTRK1, EPO
48tyrosine457.9PKLR, PKM, HFE, NTRK1, ANXA5, EPO
49ascorbic acid45 248.9EPO, ANXA5, HFE, MTHFR, TF, G6PD
50creatinine457.8G6PD, TF, MTHFR, PRDX1, NTRK1, EPO

GO Terms for genes affiliated with Pyruvate Kinase Deficiency

Sources:
16Gene Ontology
See all sources

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

idNameGO IDScoreTop Affiliating Genes
1basal part of cellGO:0451789.3HFE, TF
2early endosomeGO:0057699.2NTRK1, HFE, TF

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

idNameGO IDScoreTop Affiliating Genes
1erythrocyte maturationGO:0432499.4EPO, G6PD
2positive regulation of Ras protein signal transductionGO:0465799.3EPO, NTRK1
3response to axon injuryGO:0486789.3EPO, NTRK1
4hydrogen peroxide catabolic processGO:0427449.2HBA2, PRDX1
5response to electrical stimulusGO:0516029.2NTRK1, EPO

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

idNameGO IDScoreTop Affiliating Genes
1pyruvate kinase activityGO:0047439.8PKM, PKLR
2potassium ion bindingGO:0309559.6PKM, PKLR
3peroxidase activityGO:0046019.5HBA2, PRDX1

Products for genes affiliated with Pyruvate Kinase Deficiency

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Pyruvate Kinase Deficiency

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet