MCID: PYR013
MIFTS: 59

Pyruvate Kinase Deficiency malady

Genetic diseases, Rare diseases categories

Aliases & Classifications for Pyruvate Kinase Deficiency

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Aliases & Descriptions for Pyruvate Kinase Deficiency:

Name: Pyruvate Kinase Deficiency 49 11 45 22 23 47 24
Pk Deficiency 45 23 67
Pyruvate Kinase Deficiency of Red Cells 45 67
Hereditary Non-Spherocytic Hemolytic Anemia Due to Pyruvate Kinase Deficiency 67
Hemolytic Anemia Due to Red Cell Pyruvate Kinase Deficiency 67
Pyruvate Kinase-Deficient Hemolytic Anemia 67
Pyruvate Kinase Deficiency of Erythrocytes 45
 
Pyruvate Kinase Deficiency of Erythrocyte 67
Paroxysmal Kinesigenic Choreoathetosis 65
Red Cell Pyruvate Kinase Deficiency 67
Deficiency of Pyruvate Kinase 65
Hnsha 67
Pkrd 67
Pkd 23


Classifications:



External Ids:

OMIM49 266200
MeSH36 D000746

Summaries for Pyruvate Kinase Deficiency

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NIH Rare Diseases:45 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 based summary: Pyruvate Kinase Deficiency, also known as pk deficiency, is related to malaria and sickle cell anemia, and has symptoms including autosomal recessive inheritance, jaundice and cholelithiasis. An important gene associated with Pyruvate Kinase Deficiency is PKLR (Pyruvate Kinase, Liver And RBC), and among its related pathways are Pyruvate metabolism and Abacavir Pathway, Pharmacokinetics/Pharmacodynamics. Affiliated tissues include spleen, bone and testes, and related mouse phenotypes are growth/size/body and hematopoietic system.

Genetics Home Reference:23 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.

OMIM:49 Red cell pyruvate kinase deficiency is the most common cause of hereditary nonspherocytic hemolytic anemia. PK... (266200) more...

UniProtKB/Swiss-Prot:67 Pyruvate kinase deficiency of red cells: A frequent cause of hereditary non-spherocytic hemolytic anemia. Clinically, pyruvate kinase-deficient patients suffer from a highly variable degree of chronic hemolysis, ranging from severe neonatal jaundice and fatal anemia at birth, severe transfusion-dependent chronic hemolysis, moderate hemolysis with exacerbation during infection, to a fully compensated hemolysis without apparent anemia.

Wikipedia:68 Pyruvate kinase deficiency, also called erythrocyte pyruvate kinase deficiency, is an inherited... more...

Related Diseases for Pyruvate Kinase Deficiency

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

(show top 50)    (show all 125)
idRelated DiseaseScoreTop Affiliating Genes
1malaria30.3EPO, G6PD, HBA2, SLC4A1
2sickle cell anemia30.2EPO, G6PD, HBA2, HBG2
3hemolytic anemia11.0
4deficiency anemia10.6
5polycystic kidney disease10.6
6kidney disease10.6
7cystic kidney10.6
8congenital hemolytic anemia10.6
9hemolytic anemia due to red cell pyruvate kinase deficiency10.6
10leukemia10.5
11polycystic kidney and hepatic disease10.4
12hemochromatosis10.4
13glucose-6-phosphate dehydrogenase deficiency10.4
14congenital nonspherocytic hemolytic anemia10.4
15hereditary spherocytosis10.4
16pyruvate kinase deficiency, liver type10.4
17pyruvate kinase deficiency, muscle type10.4
18polycystic kidney disease, autosomal dominant10.4
19primary hyperoxaluria10.4
20urinary system disease10.4
21phenylketonuria10.3
22thalassemia10.3
23cholelithiasis10.3
24carbohydrate metabolic disorder10.3
25neonatal jaundice10.3
26nutritional deficiency disease10.3
27sickle cell disease10.3
28hydrops fetalis10.3
29polycystic kidney disease 210.3
30autosomal dominant disease10.3
31exocervical carcinoma10.2G6PD, PKLR
32polycystic kidney disease, adult type i10.2
33pineal gland cancer10.2G6PD, PKM
34vagus nerve disease10.2NTRK1, PKLR
35myelodysplastic syndrome10.2
36cole disease10.2
37hemolytic anemia due to hexokinase deficiency10.2
38hypertriglyceridemia10.2
39acute leukemia10.2
40chronic myelomonocytic leukemia10.2
41glycogen storage disease10.2
42hepatitis10.2
43myelofibrosis10.2
44leptospirosis10.2
45protein c deficiency10.2
46anhidrosis10.2
47hemoglobin c disease10.2
48acute pancreatitis10.2
49gaucher's disease10.2
50iron deficiency anemia10.2

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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Symptoms by clinical synopsis from OMIM:

266200

Clinical features from OMIM:

266200

HPO human phenotypes related to Pyruvate Kinase Deficiency:

(show all 12)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 jaundice HP:0000952
3 cholelithiasis HP:0001081
4 cholecystitis HP:0001082
5 intrauterine growth retardation HP:0001511
6 abnormality of the amniotic fluid HP:0001560
7 splenomegaly HP:0001744
8 nonimmune hydrops fetalis HP:0001790
9 reticulocytosis HP:0001923
10 chronic hemolytic anemia HP:0004870
11 increased red cell osmotic fragility HP:0005502
12 unconjugated hyperbilirubinemia HP:0008282

Drugs & Therapeutics for Pyruvate Kinase Deficiency

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Drugs for Pyruvate Kinase Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1pyruvateNutraceuticalPhase 227

Interventional clinical trials:

idNameStatusNCT IDPhase
1A Study of AG-348 in Adult Patients With Pyruvate Kinase DeficiencyRecruitingNCT02476916Phase 2
2A Safety and Tolerability Study of AG-519 in Healthy SubjectsRecruitingNCT02630927Phase 1
3Pyruvate Kinase Deficiency Natural History StudyRecruitingNCT02053480

Search NIH Clinical Center for Pyruvate Kinase Deficiency

Genetic Tests for Pyruvate Kinase Deficiency

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Genetic tests related to Pyruvate Kinase Deficiency:

id Genetic test Affiliating Genes
1 Pyruvate Kinase Deficiency22 24 PKLR

Anatomical Context for Pyruvate Kinase Deficiency

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MalaCards organs/tissues related to Pyruvate Kinase Deficiency:

33
Spleen, Bone, Testes, Liver, Neutrophil, Spinal cord, Bone marrow

Animal Models for Pyruvate Kinase Deficiency or affiliated genes

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MGI Mouse Phenotypes related to Pyruvate Kinase Deficiency:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053787.1G6PD, GDF15, HBA2, HFE, MTHFR, NTRK1
2MP:00053977.0EPO, G6PD, GDF15, HBA2, HFE, NTRK1
3MP:00053766.4EPO, G6PD, GDF15, HBA2, HFE, MTHFR
4MP:00107686.1EPO, G6PD, GDF15, HBA2, HFE, MTHFR

Publications for Pyruvate Kinase Deficiency

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Articles related to Pyruvate Kinase Deficiency:

(show top 50)    (show all 266)
idTitleAuthorsYear
1
Pyruvate kinase deficiency and severe congenital hemolytic anemia in a double heterozygous patient with paternal transmission of an early germ-line de novo mutation. (26315463)
2015
2
Correction: Stem Cell Selection In Vivo Using Foamy Vectors Cures Canine Pyruvate Kinase Deficiency. (24204532)
2013
3
Images in haematology. Paravertebral extramedullary haemopoiesis associated with pyruvate kinase deficiency. (19222474)
2009
4
Rescue of pyruvate kinase deficiency in mice by gene therapy using the human isoenzyme. (19755962)
2009
5
Clinical course of pyruvate kinase deficiency in Abyssinian and Somali cats. (18077199)
2008
6
Sickle cell disease in a carrier with pyruvate kinase deficiency. (19055867)
2008
7
Relative red blood cell enzyme levels as a clue to the diagnosis of pyruvate kinase deficiency. (18726918)
2008
8
Bilirubin cholelithiasis and haemosiderosis in an anaemic pyruvate kinase-deficient Somali cat. (18684151)
2008
9
Pyruvate kinase deficiency associated with severe liver dysfunction in the newborn. (17654506)
2007
10
Severe hypertriglyceridemia in an infant with red cell pyruvate kinase deficiency. (17468529)
2007
11
Moya moya syndrome in a child with pyruvate kinase deficiency and combined prothrombotic factors. (17621533)
2007
12
Red cell pyruvate kinase deficiency: molecular and clinical aspects. (15982340)
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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UniProtKB/Swiss-Prot genetic disease variations for Pyruvate Kinase Deficiency:

67 (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:

5 (show all 11)
id Gene Variation 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 variantLikely pathogenic, Pathogenicrs116100695GRCh37Chr 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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Search GEO for disease gene expression data for Pyruvate Kinase Deficiency.

Pathways for genes affiliated with Pyruvate Kinase Deficiency

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GO Terms for genes affiliated with Pyruvate Kinase Deficiency

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Cellular components related to Pyruvate Kinase Deficiency according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1hemoglobin complexGO:00058339.7HBA2, HBG2
2blood microparticleGO:00725628.6HBA2, HBG2, SLC4A1

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

(show all 17)
idNameGO IDScoreTop Affiliating Genes
1pyruvate biosynthetic processGO:004286610.5PKLR, PKM
2glycolytic processGO:000609610.5PKLR, PKM
3canonical glycolysisGO:006162110.5PKLR, PKM
4ATP biosynthetic processGO:000675410.4PKLR, PKM
5erythrocyte maturationGO:004324910.4EPO, G6PD
6response to axon injuryGO:004867810.2EPO, NTRK1
7positive regulation of pathway-restricted SMAD protein phosphorylationGO:001086210.2GDF15, HFE
8response to electrical stimulusGO:005160210.1EPO, NTRK1
9positive regulation of Ras protein signal transductionGO:004657910.1EPO, NTRK1
10oxygen transportGO:001567110.1HBA2, HBG2
11response to nutrientGO:000758410.0EPO, PKLR, PKM
12glucose metabolic processGO:00060069.9G6PD, PKLR, PKM
13blood circulationGO:00080159.8EPO, MTHFR
14response to interleukin-1GO:00705559.8EPO, MTHFR
15bicarbonate transportGO:00157019.7HBA2, SLC4A1
16response to hypoxiaGO:00016668.8EPO, MTHFR, PKLR, PKM
17small molecule metabolic processGO:00442817.3G6PD, HBA2, MTHFR, PKLR, PKM, SLC4A1

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

idNameGO IDScoreTop Affiliating Genes
1pyruvate kinase activityGO:000474310.3PKLR, PKM
2potassium ion bindingGO:003095510.2PKLR, PKM
3oxygen transporter activityGO:00053449.8HBA2, HBG2
4NADP bindingGO:00506619.6G6PD, MTHFR
5oxygen bindingGO:00198259.3HBA2, HBG2

Sources for Pyruvate Kinase Deficiency

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet