MCID: PYR013
MIFTS: 58

Pyruvate Kinase Deficiency malady

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

Aliases & Classifications for Pyruvate Kinase Deficiency

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Aliases & Descriptions for Pyruvate Kinase Deficiency:

Name: Pyruvate Kinase Deficiency 50 46 23 24 12 48
Pyruvate Kinase Deficiency of Red Cells 50 46 68
Pk Deficiency 46 24 68
Hemolytic Anemia Due to Red Cell Pyruvate Kinase Deficiency 52 68
Pyruvate Kinase Deficiency of Erythrocytes 46 52
Red Cell Pyruvate Kinase Deficiency 68 25
Hereditary Non-Spherocytic Hemolytic Anemia Due to Pyruvate Kinase Deficiency 68
 
Pyruvate Kinase-Deficient Hemolytic Anemia 68
Pyruvate Kinase Deficiency of Erythrocyte 68
Paroxysmal Kinesigenic Choreoathetosis 66
Deficiency of Pyruvate Kinase 66
Hnsha 68
Pkrd 68
Pkd 24

Characteristics:

Orphanet epidemiological data:

52
hemolytic anemia due to red cell pyruvate kinase deficiency:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000,1-9/100000 (Europe); Age of onset: Infancy,Neonatal; Age of death: any age

HPO:

62
pyruvate kinase deficiency:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 266200
Orphanet52 ORPHA766
ICD10 via Orphanet29 D55.2
MeSH37 D000746

Summaries for Pyruvate Kinase Deficiency

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NIH Rare Diseases:46 Pyruvate kinase deficiency is a genetic 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). the signs and symptoms of the disease may vary greatly from person to person. however, they usually include jaundice, enlargement of the spleen, and mild or severe hemolysis (red cell breakdown), leading to anemia. in some cases, the problems may first appear while in utero, causing a condition in which abnormal amounts of fluid build up in two or more body areas of the fetus (hydrops fetalis). newborns may present with 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. although the anemia tends to stabilize in adulthood, episodes of anemia may occur with acute infections, stress, and pregnancy. pyruvate kinase deficiency is caused by a mutation in the pklr gene and is inherited in an autosomal recessive fashion. treatment remains supportive rather than curative.   last updated: 1/13/2016

MalaCards based summary: Pyruvate Kinase Deficiency, also known as pyruvate kinase deficiency of red cells, is related to hepatitis and thalassemia minor, and has symptoms including dystonia, dystonia, paroxysmal and jaundice. 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, testes and liver, and related mouse phenotypes are no phenotypic analysis and normal.

UniProtKB/Swiss-Prot:68 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.

Genetics Home Reference:24 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:50 Red cell pyruvate kinase deficiency is the most common cause of hereditary nonspherocytic hemolytic anemia. PK... (266200) more...

Wikipedia:69 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 79)
idRelated DiseaseScoreTop Affiliating Genes
1hepatitis29.7G6PD, PKLR, SLC4A1
2thalassemia minor29.6HBA2, HBG2, HFE
3malaria28.8EPO, G6PD, HBA2, SLC4A1
4pyruvate kinase deficiency, liver type12.1
5pyruvate kinase deficiency, muscle type12.1
6polycystic kidney disease11.6
7polycystic kidney and hepatic disease11.3
8convulsions, familial infantile, with paroxysmal choreoathetosis11.0
9familial paroxysmal kinesigenic dyskinesia11.0
10episodic kinesigenic dyskinesia 110.9
11polycystic kidney disease 1, autosomal dominant10.9
12polycystic kidney disease 2, autosomal dominant10.9
13hemolytic anemia10.6
14larynx sarcoma10.5G6PD, PKLR
15preeclampsia/eclampsia 410.5G6PD, HBA2
16renal artery disease10.4G6PD, PKLR
17neonatal respiratory failure10.4NTRK1, PKLR
18cystic kidney disease10.4
19kidney disease10.4
20peripheral vascular disease10.4G6PD, HBG2
21premature menopause10.2G6PD, HBG2
22deficiency anemia10.2
23joint disorders10.2G6PD, MTHFR
24endometrial adenocarcinoma10.2HFE, PKLR
25hemolytic anemia due to hexokinase deficiency10.1
26hemochromatosis10.1
27leukemia10.1
28congenital hemolytic anemia10.1
29myxozoa10.1
30hereditary spherocytosis10.1
31polycystic liver disease10.0
32wernicke encephalopathy10.0G6PD, PKM, SLC4A1
33phenylketonuria10.0
34thalassemia10.0
35cholelithiasis10.0
36neonatal jaundice10.0
37sickle cell disease10.0
38hydrops fetalis10.0
39dic in newborn10.0EPO, HBA2
40timothy syndrome type 19.9EPO, HBA2
41suppurative otitis media9.9EPO, HBA2
42plasmodium vivax malaria9.9HFE, PKLR, SLC4A1
43glomerulocystic kidney disease with hyperuricemia and isosthenuria9.9
44polycystic kidney disease, autosomal dominant9.9
45basilar artery insufficiency9.9EPO, HFE
46pancreatic cancer9.8
47lymphoma9.8
48episodic ataxia9.8
49thbd-related atypical hemolytic-uremic syndrome9.8HBG2, HFE, MTHFR
50myelodysplastic syndrome9.8

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

UMLS symptoms related to Pyruvate Kinase Deficiency:


dystonia, dystonia, paroxysmal

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 2, Phase 134

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 Deficiency of Red Cells25
2 Pyruvate Kinase Deficiency23 PKLR

Anatomical Context for Pyruvate Kinase Deficiency

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MalaCards organs/tissues related to Pyruvate Kinase Deficiency:

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

Animal Models for Pyruvate Kinase Deficiency or affiliated genes

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MGI Mouse Phenotypes related to Pyruvate Kinase Deficiency:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00030128.5HBG2, HFE, MTHFR, NTRK1, PKM
2MP:00028737.5EPO, HBG2, HFE, NTRK1, PKLR, PKM
3MP:00053977.2EPO, G6PD, GDF15, HFE, NTRK1, PKLR
4MP:00107685.9EPO, 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 279)
idTitleAuthorsYear
1
Cord blood transplantation in a young child with pyruvate kinase deficiency. (27460399)
2016
2
Safe and Efficient Preclinical Gene Therapy for Pyruvate Kinase Deficiency. (27138040)
2016
3
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
4
A case of hereditary spherocytosis misdiagnosed as pyruvate kinase deficient hemolytic anemia. (23724634)
2013
5
Images in haematology. Paravertebral extramedullary haemopoiesis associated with pyruvate kinase deficiency. (19222474)
2009
6
A rare combination of two inherited disorders in one patient: pyruvate kinase deficiency and hemochromatosis. (19137298)
2009
7
Spectrum of novel mutations in the human PKLR gene in pyruvate kinase-deficient Indian patients with heterogeneous clinical phenotypes. (18759866)
2009
8
Clinical course of pyruvate kinase deficiency in Abyssinian and Somali cats. (18077199)
2008
9
Sickle cell disease in a carrier with pyruvate kinase deficiency. (19055867)
2008
10
Relative red blood cell enzyme levels as a clue to the diagnosis of pyruvate kinase deficiency. (18726918)
2008
11
Severe hypertriglyceridemia in an infant with red cell pyruvate kinase deficiency. (17468529)
2007
12
Molecular characterisation of pyruvate kinase deficiency--concerns about the description of mutant PKLR alleles. (17222205)
2007
13
Pyruvate kinase deficiency. (17550841)
2007
14
Pyruvate kinase deficiency confers susceptibility to Salmonella typhimurium infection in mice. (17998386)
2007
15
Hereditary enzyme defects of erythrocytes: glucose-6-phosphate dehydrogenase deficiency and pyruvate kinase deficiency]. (16450734)
2006
16
Red cell pyruvate kinase deficiency: molecular and clinical aspects. (15982340)
2005
17
The response of the metabolic network of the red blood cell to pyruvate kinase deficiency. (17282332)
2005
18
Disruption of a novel regulatory element in the erythroid-specific promoter of the human PKLR gene causes severe pyruvate kinase deficiency. (12393511)
2003
19
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
20
Eight novel mutations and consequences on mRNA and protein level in pyruvate kinase-deficient patients with nonspherocytic hemolytic anemia. (10679942)
2000
21
Prevalence of pyruvate kinase deficiency in northern European population in the north of England. Northern Region Haematologists Group. (11186276)
2000
22
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
23
Frame shift mutation, exon skipping, and a two-codon deletion caused by splice site mutations account for pyruvate kinase deficiency. (9166866)
1997
24
Genetic test for pyruvate kinase deficiency of Basenjis. (7559024)
1995
25
An autopsy case of pyruvate kinase deficiency anemia associated with severe hemochromatosis. (8180445)
1994
26
Prenatal diagnosis of pyruvate kinase deficiency. (7919353)
1994
27
Concise review: pyruvate kinase deficiency: historical perspective and recent progress of molecular genetics. (8416294)
1993
28
Analysis of pyruvate kinase-deficiency mutations that produce nonspherocytic hemolytic anemia. (8483951)
1993
29
Fetal anaemia due to pyruvate kinase deficiency. (8285758)
1993
30
Determination of erythrocyte pyruvate kinase deficiency in Basenjis with chronic hemolytic anemia. (2071475)
1991
31
Diagnosis of pyruvate kinase deficiency in a transfusion-dependent patient with severe hemolytic anemia. (2220762)
1990
32
Patient with pyruvate kinase deficiency developed acute myelogenous leukemia. (2327407)
1990
33
Erythrocyte pyruvate kinase deficiency. A case of severe congenital hemolytic anemia. (2761512)
1989
34
Hemolytic anemia with pyruvate kinase deficiency presenting as paravertebral myelolipoma. (6708396)
1984
35
Iron overload associated with congenital pyruvate kinase deficiency and high dose ascorbic acid ingestion. (6597712)
1984
36
Pyruvate kinase deficiency and other enzymopathies of the Embden--Meyerhof pathway. (6260408)
1981
37
Spinal cord compression by extramedullary hemopoietic tissue in pyruvate-kinase-deficiency-caused hemolytic anemia. (571550)
1979
38
Hereditary pyruvate kinase deficiency: role of the abnormal enzyme in red cell pathophysiology. (728372)
1978
39
Acquired pyruvate kinase deficiency. (900864)
1977
40
Inherited erythrocyte pyruvate kinase deficiency: Studies on 15 members of two related families. (190844)
1977
41
Erythrocyte pyruvate kinase deficiency in a beagle dog. (15314790)
1977
42
Secondary red cell pyruvate kinase deficiency. I. Study of 30 subjects of malignant hematological disorders. (990003)
1976
43
Molecular mechanism of erythrocyte pyruvate kinase deficiency. (809344)
1975
44
A new variant of red blood cell pyruvate kinase deficiency. (5010308)
1972
45
Erythrocyte pyruvate kinase deficiency in non-spherocytic hemolytic anemia: a system of multiple genetic markers? (5658389)
1968
46
Three cases of hemolytic anemia with erythrocyte pyruvate kinase deficiency in Alberta. (5921478)
1966
47
A CASE OF CONGENITAL ATYPICAL HAEMOLYTIC ANAEMIA WITH PYRUVATE KINASE DEFICIENCY. (14177439)
1964
48
EXTREME HEMOLYSIS AND RED-CELL DISTORTION IN ERYTHROCYTE PYRUVATE KINASE DEFICIENCY. I. MORPHOLOGY, ERYTHROKINETICS AND FAMILY ENZYME STUDIES. (14122798)
1964
49
Haemolytic anaemia due to pyruvate-kinase deficiency. (14016290)
1963
50
CONGENITAL NON SPHEROCYTIC HAEMOLYTIC ANAEMIA DUE TO PYRUVATE-KINASE DEFICIENCY. (14064793)
1963

Variations for Pyruvate Kinase Deficiency

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

68 (show all 100)
id Symbol AA change Variation ID SNP ID
1PKLRp.Met107ThrVAR_004028
2PKLRp.Val134AspVAR_004030rs574051756
3PKLRp.Leu155ProVAR_004031
4PKLRp.Glu172GlnVAR_004032rs757359024
5PKLRp.Arg163CysVAR_004033rs118204083
6PKLRp.Gly275ArgVAR_004035rs747549978
7PKLRp.Asp281AsnVAR_004036
8PKLRp.Phe287ValVAR_004037
9PKLRp.Ile314ThrVAR_004038
10PKLRp.Asp331GluVAR_004039rs138476691
11PKLRp.Gly332SerVAR_004040rs773626254
12PKLRp.Ala336SerVAR_004041
13PKLRp.Arg337ProVAR_004042
14PKLRp.Arg337GlnVAR_004043
15PKLRp.Asp339HisVAR_004044
16PKLRp.Gly341AlaVAR_004045
17PKLRp.Ile357ThrVAR_004047rs779152555
18PKLRp.Arg359CysVAR_004048rs138871700
19PKLRp.Arg359HisVAR_004049
20PKLRp.Asn361AspVAR_004050rs765903674
21PKLRp.Val368PheVAR_004051
22PKLRp.Thr384MetVAR_004052rs74315362
23PKLRp.Ala392ThrVAR_004053
24PKLRp.Asn393LysVAR_004054
25PKLRp.Asn393SerVAR_004055rs776594413
26PKLRp.Thr408IleVAR_004057
27PKLRp.Gln421LysVAR_004058rs118204084
28PKLRp.Arg426GlnVAR_004059rs768002493
29PKLRp.Arg426TrpVAR_004060
30PKLRp.Ala431ThrVAR_004061rs762591322
31PKLRp.Gly458AspVAR_004062rs755522396
32PKLRp.Ala459ValVAR_004063
33PKLRp.Val460MetVAR_004064rs752034960
34PKLRp.Ala468ValVAR_004065
35PKLRp.Arg486TrpVAR_004066rs116100695
36PKLRp.Arg490TrpVAR_004067rs200133000
37PKLRp.Ala495ValVAR_004068rs141560532
38PKLRp.Arg498CysVAR_004069rs551883218
39PKLRp.Arg498HisVAR_004070rs758327704
40PKLRp.Arg510GlnVAR_004071rs113403872
41PKLRp.Arg532GlnVAR_004072rs758278200
42PKLRp.Arg532TrpVAR_004073rs201255024
43PKLRp.Val552MetVAR_004074rs370316462
44PKLRp.Arg559GlyVAR_004075
45PKLRp.Asn566LysVAR_004076
46PKLRp.Ser80ProVAR_011436
47PKLRp.Arg86ProVAR_011437
48PKLRp.Ile90AsnVAR_011438
49PKLRp.Gly95ArgVAR_011439rs750857114
50PKLRp.Gly111ArgVAR_011440
51PKLRp.Ala115ProVAR_011441
52PKLRp.Ser120PheVAR_011442
53PKLRp.Ser130TyrVAR_011443rs118204089
54PKLRp.Gly159ValVAR_011444
55PKLRp.Gly222AlaVAR_011445
56PKLRp.Asp293AsnVAR_011446
57PKLRp.Gly263ArgVAR_011447
58PKLRp.Gly263TrpVAR_011448
59PKLRp.Val288LeuVAR_011449
60PKLRp.Ala295ValVAR_011450rs766353400
61PKLRp.Ile310AsnVAR_011451
62PKLRp.Glu315LysVAR_011452
63PKLRp.Asp331AsnVAR_011453rs773893686
64PKLRp.Gly341AspVAR_011454
65PKLRp.Ile342PheVAR_011455
66PKLRp.Lys348AsnVAR_011456
67PKLRp.Gly364AspVAR_011458
68PKLRp.Ser376IleVAR_011459
69PKLRp.Glu387GlyVAR_011460
70PKLRp.Asp390AsnVAR_011461rs147034239
71PKLRp.Ala394AspVAR_011462
72PKLRp.Ala394ValVAR_011463
73PKLRp.Thr408AlaVAR_011464
74PKLRp.Glu427AlaVAR_011465
75PKLRp.Glu427AspVAR_011466
76PKLRp.Thr477AlaVAR_011467rs759466273
77PKLRp.Ser485PheVAR_011468
78PKLRp.Arg488GlnVAR_011469rs369183199
79PKLRp.Ala495ThrVAR_011470
80PKLRp.Arg504LeuVAR_011471rs185753709
81PKLRp.Gly511ArgVAR_011472
82PKLRp.Arg531CysVAR_011473
83PKLRp.Ile153ThrVAR_011474
84PKLRp.Ile219ThrVAR_011475rs200572803
85PKLRp.Val335MetVAR_011476
86PKLRp.Ala352AspVAR_011477
87PKLRp.Arg385TrpVAR_011478
88PKLRp.Ala468GlyVAR_011479rs750540943
89PKLRp.Arg479HisVAR_011480rs118204085
90PKLRp.Gly557AlaVAR_011481
91PKLRp.Arg569GlnVAR_011482rs61755431
92PKLRp.Arg40TrpVAR_058467
93PKLRp.Leu73ProVAR_058469
94PKLRp.Ala154ThrVAR_058470rs780192373
95PKLRp.Arg163LeuVAR_058471
96PKLRp.Gly165ValVAR_058472
97PKLRp.Leu272ValVAR_058473rs147659527
98PKLRp.Val320LeuVAR_058474rs549295725
99PKLRp.Gly358GluVAR_058475
100PKLRp.Leu374ProVAR_058476

Clinvar genetic disease variations for Pyruvate Kinase Deficiency:

5 (show all 12)
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.1436G> A (p.Arg479His)single nucleotide variantPathogenicrs118204085GRCh37Chr 1, 155262968: 155262968
6PKLRNM_000298.5(PKLR): c.1529G> A (p.Arg510Gln)single nucleotide variantPathogenicrs113403872GRCh37Chr 1, 155261636: 155261636
7PKLRNM_000298.5(PKLR): c.1456C> T (p.Arg486Trp)single nucleotide variantLikely pathogenic, Pathogenicrs116100695GRCh37Chr 1, 155261709: 155261709
8PKLRNM_000298.5(PKLR): c.389C> A (p.Ser130Tyr)single nucleotide variantPathogenicrs118204089GRCh37Chr 1, 155265346: 155265346
9PKLRPKLR, -83G-Csingle nucleotide variantPathogenic
10PKLRPKLR, 1318G-Tsingle nucleotide variantPathogenic
11PKLRPKLR, 1269G-Asingle nucleotide variantPathogenic
12PKLRPKLR, 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:00058339.3HBA2, HBG2
2blood microparticleGO:00725629.0HBA2, 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
2canonical glycolysisGO:006162110.5PKLR, PKM
3ATP biosynthetic processGO:000675410.3PKLR, PKM
4glycolytic processGO:000609610.1PKLR, PKM
5oxygen transportGO:001567110.0HBA2, HBG2
6erythrocyte maturationGO:00432499.9EPO, G6PD
7positive regulation of pathway-restricted SMAD protein phosphorylationGO:00108629.8GDF15, HFE
8bicarbonate transportGO:00157019.8HBA2, SLC4A1
9acute-phase responseGO:00069539.7EPO, HFE
10response to interleukin-1GO:00705559.6EPO, MTHFR
11negative regulation of neuron deathGO:19012159.6EPO, NTRK1
12positive regulation of Ras protein signal transductionGO:00465799.5EPO, NTRK1
13response to electrical stimulusGO:00516029.4EPO, NTRK1
14blood circulationGO:00080159.3EPO, MTHFR
15response to nutrientGO:00075849.3EPO, PKLR, PKM
16response to axon injuryGO:00486789.0EPO, NTRK1
17response to hypoxiaGO:00016668.6EPO, MTHFR, PKLR, PKM

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

idNameGO IDScoreTop Affiliating Genes
1pyruvate kinase activityGO:000474310.4PKLR, PKM
2potassium ion bindingGO:003095510.3PKLR, PKM
3oxygen transporter activityGO:000534410.0HBA2, HBG2
4NADP bindingGO:00506619.7G6PD, MTHFR
5oxygen bindingGO:00198259.5HBA2, HBG2

Sources for Pyruvate Kinase Deficiency

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet