PKRD
MCID: PYR013
MIFTS: 58

Pyruvate Kinase Deficiency (PKRD) malady

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

Aliases & Classifications for Pyruvate Kinase Deficiency

Aliases & Descriptions for Pyruvate Kinase Deficiency:

Name: Pyruvate Kinase Deficiency 54 50 24 25 13 52
Pyruvate Kinase Deficiency of Red Cells 54 12 50 66
Pk Deficiency 12 50 25 66
Hemolytic Anemia Due to Red Cell Pyruvate Kinase Deficiency 12 56 66
Pyruvate Kinase Deficiency of Erythrocytes 50 56
Pyruvate Kinase Deficiency of Erythrocyte 12 66
Red Cell Pyruvate Kinase Deficiency 66 29
Hereditary Non-Spherocytic Hemolytic Anemia Due to Pyruvate Kinase Deficiency 66
Anemia, Hemolytic, Congenital Nonspherocytic 69
Pyruvate Kinase-Deficient Hemolytic Anemia 66
Deficiency of Pyruvate Kinase 69
Hnsha 66
Pkrd 66
Pkd 25

Characteristics:

Orphanet epidemiological data:

56
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:

32
pyruvate kinase deficiency:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 266200
Disease Ontology 12 DOID:0111077
Orphanet 56 ORPHA766
ICD10 via Orphanet 34 D55.2
MeSH 42 D000746

Summaries for Pyruvate Kinase Deficiency

NIH Rare Diseases : 50 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 pyruvate kinase deficiency, liver type and pyruvate kinase deficiency, muscle type, and has symptoms including splenomegaly, cholelithiasis and jaundice. An important gene associated with Pyruvate Kinase Deficiency is PKLR (Pyruvate Kinase, Liver And RBC), and among its related pathways/superpathways are Carbon metabolism and Pyruvate metabolism. The drug Pyruvate has been mentioned in the context of this disorder. Affiliated tissues include spleen, testes and liver, and related phenotypes are Increased shRNA abundance and hematopoietic system

Disease Ontology : 12 A congenital nonspherocytic hemolytic anemia that has material basis in homozygous or compound heterozygous mutation in the PKLR gene on chromosome 1q22.

Genetics Home Reference : 25 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 : 54 Red cell pyruvate kinase deficiency is the most common cause of hereditary nonspherocytic hemolytic anemia. PK... (266200) more...

UniProtKB/Swiss-Prot : 66 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 : 71 Pyruvate kinase deficiency, also called erythrocyte pyruvate kinase deficiency, is an inherited... more...

Related Diseases for Pyruvate Kinase Deficiency

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

(show top 50) (show all 83)
id Related Disease Score Top Affiliating Genes
1 pyruvate kinase deficiency, liver type 12.0
2 pyruvate kinase deficiency, muscle type 12.0
3 polycystic kidney disease 11.7
4 autosomal dominant polycystic kidney disease 11.3
5 cystic kidney disease 11.2
6 hemolytic anemia due to hexokinase deficiency 11.0
7 polycystic liver disease 10.9
8 polycystic kidney and hepatic disease 10.9
9 familial paroxysmal kinesigenic dyskinesia 10.9
10 convulsions, familial infantile, with paroxysmal choreoathetosis 10.9
11 glomerulocystic kidney disease with hyperuricemia and isosthenuria 10.8
12 polycystic kidney disease 1, autosomal dominant 10.7
13 polycystic kidney disease 2, autosomal dominant 10.7
14 episodic kinesigenic dyskinesia 1 10.7
15 hemolytic anemia 10.5
16 nodular degeneration of cornea 10.3 G6PD PKLR
17 kidney disease 10.2
18 mutism 10.2 G6PD SLC4A1
19 cutaneous pseudolymphoma 10.2 G6PD HBG2
20 tendinopathy 10.2 G6PD HBG2
21 cardiomyopathy, dilated, 1w 10.2 G6PD HBA2
22 renal artery disease 10.1 G6PD PKM SLC4A1
23 endometriosis of uterus 10.1 G6PD HBG2
24 renal tubular acidosis, distal, ar 10.1 GATA1 SLC4A1
25 hypersensitivity syndrome, carbamazepine-induced 10.1 HBA2 HFE
26 alzheimer's disease 11 10.1 HBA2 MTHFR
27 setariasis 10.1 G6PD HBG2
28 respiratory failure 10.1 NTRK1 PKLR
29 deficiency anemia 10.1
30 malaria 10.1
31 tmem231-related joubert syndrome 10.1 HBA2 HFE
32 pyloric stenosis, infantile hypertrophic, 4 10.0 EPO GATA1
33 hemochromatosis 10.0
34 leukemia 10.0
35 congenital hemolytic anemia 10.0
36 disseminated intravascular coagulation 10.0 EPO HBA2
37 congenital intrinsic factor deficiency 10.0 EPO MTHFR
38 acute liver failure 10.0 EPO GATA1
39 post-thrombotic syndrome 9.9 EPO HFE
40 myxozoa 9.9
41 cat-scratch disease 9.9 EPO G6PD HBA2
42 thalassemia 9.9
43 hereditary spherocytosis 9.9
44 tmem216-related meckel syndrome 9.9 EPO HBA2 HFE
45 larynx sarcoma 9.9 EPO HBA2 HFE
46 episcleritis periodica fugax 9.9 EPO HFE
47 tmem237-related joubert syndrome 9.8 EPO GATA1 HBA2
48 meningeal melanocytoma 9.8 EPO G6PD HBA2 PKLR
49 hydrops fetalis 9.8
50 neonatal jaundice 9.8

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



Diseases related to Pyruvate Kinase Deficiency

Symptoms & Phenotypes for Pyruvate Kinase Deficiency

Symptoms by clinical synopsis from OMIM:

266200

Clinical features from OMIM:

266200

Human phenotypes related to Pyruvate Kinase Deficiency:

32 (show all 11)
id Description HPO Frequency HPO Source Accession
1 splenomegaly 32 HP:0001744
2 cholelithiasis 32 HP:0001081
3 jaundice 32 HP:0000952
4 intrauterine growth retardation 32 HP:0001511
5 chronic hemolytic anemia 32 HP:0004870
6 reticulocytosis 32 HP:0001923
7 unconjugated hyperbilirubinemia 32 HP:0008282
8 cholecystitis 32 HP:0001082
9 nonimmune hydrops fetalis 32 HP:0001790
10 abnormality of the amniotic fluid 32 HP:0001560
11 increased red cell osmotic fragility 32 HP:0005502

UMLS symptoms related to Pyruvate Kinase Deficiency:


icterus

GenomeRNAi Phenotypes related to Pyruvate Kinase Deficiency according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance GR00327-A 8.92 EPO G6PD HBG2 MTHFR

MGI Mouse Phenotypes related to Pyruvate Kinase Deficiency:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.76 G6PD GATA1 GDF15 HFE NTRK1 PKLR
2 mortality/aging MP:0010768 9.7 EPO G6PD GATA1 GDF15 HBA2 HFE
3 normal MP:0002873 9.17 EPO GATA1 HBG2 HFE NTRK1 PKLR

Drugs & Therapeutics for Pyruvate Kinase Deficiency

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


id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Pyruvate Approved, Nutraceutical Phase 2,Phase 1

Interventional clinical trials:


id Name Status NCT ID Phase
1 A Study of AG-348 in Adult Patients With Pyruvate Kinase Deficiency Active, not recruiting NCT02476916 Phase 2
2 A Safety and Tolerability Study of AG-519 in Healthy Subjects Terminated NCT02630927 Phase 1
3 Pyruvate Kinase Deficiency Natural History Study Active, not recruiting NCT02053480

Search NIH Clinical Center for Pyruvate Kinase Deficiency

Genetic Tests for Pyruvate Kinase Deficiency

Genetic tests related to Pyruvate Kinase Deficiency:

id Genetic test Affiliating Genes
1 Pyruvate Kinase Deficiency of Red Cells 29
2 Pyruvate Kinase Deficiency 24 PKLR

Anatomical Context for Pyruvate Kinase Deficiency

MalaCards organs/tissues related to Pyruvate Kinase Deficiency:

39
Spleen, Testes, Liver, Neutrophil, Bone, Bone Marrow, Spinal Cord

Publications for Pyruvate Kinase Deficiency

Articles related to Pyruvate Kinase Deficiency:

(show top 50) (show all 283)
id Title Authors Year
1
Molecular basis of pyruvate kinase deficiency among Tunisians: description of new mutations affecting coding and noncoding regions in the PKLR gene. ( 28133914 )
2017
2
Red cell pyruvate kinase deficiency in Spain: A study of 15 cases. ( 27871768 )
2017
3
Hereditary Xerocytosis due to Mutations in PIEZO1 Gene Associated with Heterozygous Pyruvate Kinase Deficiency and Beta-Thalassemia Trait in Two Unrelated Families. ( 28367341 )
2017
4
Safe and Efficient Preclinical Gene Therapy for Pyruvate Kinase Deficiency. ( 27138040 )
2016
5
Two Novel Missense Mutations and a 5bp Deletion in the Erythroid-Specific Promoter of the PKLR Gene in Two Unrelated Patients With Pyruvate Kinase Deficient Transfusion-Dependent Chronic Nonspherocytic Hemolytic Anemia. ( 26728349 )
2016
6
Siblings with severe pyruvate kinase deficiency and a complex genotype. ( 27354418 )
2016
7
Cord blood transplantation in a young child with pyruvate kinase deficiency. ( 27460399 )
2016
8
[Analysis and prenatal diagnosis of PKLR gene mutations in a family with pyruvate kinase deficiency]. ( 26829734 )
2016
9
Plesiomonas shigelloides Septic Shock Leading to Death of Postsplenectomy Patient with Pyruvate Kinase Deficiency and Hemochromatosis. ( 27610253 )
2016
10
Congenital dyserythropoietic anemia associated to a GATA1 mutation aggravated by pyruvate kinase deficiency. ( 27342114 )
2016
11
Mitral Valve Replacement With Cardiopulmonary Bypass in a Patient With Pyruvate Kinase Deficiency. ( 27498259 )
2016
12
Diagnosis of Pyruvate Kinase Deficiency. ( 26836632 )
2016
13
Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells. ( 26549847 )
2015
14
Erythrocyte pyruvate kinase deficiency: 2015 status report. ( 26087744 )
2015
15
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
16
Cholestasis and Hepatic Failure in a Neonate: A Case Report of Severe Pyruvate Kinase Deficiency. ( 26459649 )
2015
17
Real-time PCR genotyping assay for feline erythrocyte pyruvate kinase deficiency and mutant allele frequency in purebred cats in Japan. ( 25716288 )
2015
18
Iron status in patients with pyruvate kinase deficiency: neonatal hyperferritinaemia associated with a novel frameshift deletion in the PKLR gene (p.Arg518fs), and low hepcidin to ferritin ratios. ( 24533562 )
2014
19
Partial pyruvate kinase deficiency aggravates the phenotypic expression of band 3 deficiency in a family with hereditary spherocytosis. ( 25388786 )
2014
20
A novel and a previously described compound heterozygous PKLR gene mutations causing pyruvate kinase deficiency in a Chinese child. ( 24601847 )
2014
21
Dyserythropoiesis in a child with pyruvate kinase deficiency and coexistent unilateral multicystic dysplastic kidney. ( 24481986 )
2014
22
Correction: Stem Cell Selection In Vivo Using Foamy Vectors Cures Canine Pyruvate Kinase Deficiency. ( 24204532 )
2013
23
A case of severe pyruvate kinase deficiency in a primigravida: successful outcome. ( 27757165 )
2013
24
Erythrocyte pyruvate kinase deficiency in three West Highland white terriers in Ireland and the UK. ( 23842571 )
2013
25
A case of hereditary spherocytosis misdiagnosed as pyruvate kinase deficient hemolytic anemia. ( 23724634 )
2013
26
Molecular and clinical heterogeneity in pyruvate kinase deficiency in India. ( 23770304 )
2013
27
Erythrocyte pyruvate kinase deficiency mutation identified in multiple breeds of domestic cats. ( 23110753 )
2012
28
Pyruvate kinase deficiency in sub-Saharan Africa: identification of a highly frequent missense mutation (G829A;Glu277Lys) and association with malaria. ( 23082140 )
2012
29
Stem cell selection in vivo using foamy vectors cures canine pyruvate kinase deficiency. ( 23028826 )
2012
30
First reported case of prenatal diagnosis for pyruvate kinase deficiency in a Chinese family. ( 22183074 )
2011
31
Six children with pyruvate kinase deficiency from one small town: molecular characterization of the PK-LR gene. ( 21784452 )
2011
32
Erythrocyte pyruvate kinase deficiency in an old-order Amish cohort: longitudinal risk and disease management. ( 21815188 )
2011
33
Red cell pyruvate kinase deficiency in Southern Sardinia. ( 20870434 )
2010
34
Pyruvate kinase deficiency as a cause of extreme hyperbilirubinemia in neonates from a polygamist community. ( 20182430 )
2010
35
Glucose-6-phosphate dehydrogenase and red cell pyruvate kinase deficiency in neonatal jaundice cases in egypt. ( 20426517 )
2010
36
Deferasirox in pyruvate kinase deficiency. ( 18810437 )
2009
37
Erythrocytic pyruvate kinase deficiency and AB blood types in Australian Abyssinian and Somali cats. ( 19178476 )
2009
38
Adenosine triphosphate depletion of erythrocytes simulates the phenotype associated with pyruvate kinase deficiency and confers protection against Plasmodium falciparum in vitro. ( 19743919 )
2009
39
Novel human pathological mutations. Gene symbol: PKLR. Disease: pyruvate kinase deficiency. ( 19309787 )
2009
40
Novel human pathological mutations. Gene symbol: PKLR. Disease: pyruvate kinase deficiency. ( 19309805 )
2009
41
A rare combination of two inherited disorders in one patient: pyruvate kinase deficiency and hemochromatosis. ( 19137298 )
2009
42
Novel human pathological mutations. Gene symbol: PKLR. Disease: pyruvate kinase deficiency. ( 19320017 )
2009
43
Idiopathic pulmonary arterial hypertension in a patient with pyruvate kinase deficiency and paravertebral extramedullary hematopoiesis. ( 19039535 )
2009
44
Rescue of pyruvate kinase deficiency in mice by gene therapy using the human isoenzyme. ( 19755962 )
2009
45
Images in haematology. Paravertebral extramedullary haemopoiesis associated with pyruvate kinase deficiency. ( 19222474 )
2009
46
Regulation of iron metabolism through GDF15 and hepcidin in pyruvate kinase deficiency. ( 19120353 )
2009
47
Spectrum of novel mutations in the human PKLR gene in pyruvate kinase-deficient Indian patients with heterogeneous clinical phenotypes. ( 18759866 )
2009
48
Pyruvate kinase deficiency protects against malaria in humans. ( 18460648 )
2008
49
Pyruvate kinase deficiency and malaria. ( 18420493 )
2008
50
Relative red blood cell enzyme levels as a clue to the diagnosis of pyruvate kinase deficiency. ( 18726918 )
2008

Variations for Pyruvate Kinase Deficiency

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

66 (show top 50) (show all 100)
id Symbol AA change Variation ID SNP ID
1 PKLR p.Met107Thr VAR_004028
2 PKLR p.Val134Asp VAR_004030 rs574051756
3 PKLR p.Leu155Pro VAR_004031
4 PKLR p.Glu172Gln VAR_004032 rs757359024
5 PKLR p.Arg163Cys VAR_004033 rs118204083
6 PKLR p.Gly275Arg VAR_004035 rs747549978
7 PKLR p.Asp281Asn VAR_004036
8 PKLR p.Phe287Val VAR_004037
9 PKLR p.Ile314Thr VAR_004038
10 PKLR p.Asp331Glu VAR_004039 rs138476691
11 PKLR p.Gly332Ser VAR_004040 rs773626254
12 PKLR p.Ala336Ser VAR_004041
13 PKLR p.Arg337Pro VAR_004042
14 PKLR p.Arg337Gln VAR_004043
15 PKLR p.Asp339His VAR_004044
16 PKLR p.Gly341Ala VAR_004045
17 PKLR p.Ile357Thr VAR_004047 rs779152555
18 PKLR p.Arg359Cys VAR_004048 rs138871700
19 PKLR p.Arg359His VAR_004049
20 PKLR p.Asn361Asp VAR_004050 rs765903674
21 PKLR p.Val368Phe VAR_004051
22 PKLR p.Thr384Met VAR_004052 rs74315362
23 PKLR p.Ala392Thr VAR_004053
24 PKLR p.Asn393Lys VAR_004054
25 PKLR p.Asn393Ser VAR_004055 rs776594413
26 PKLR p.Thr408Ile VAR_004057
27 PKLR p.Gln421Lys VAR_004058 rs118204084
28 PKLR p.Arg426Gln VAR_004059 rs768002493
29 PKLR p.Arg426Trp VAR_004060
30 PKLR p.Ala431Thr VAR_004061 rs762591322
31 PKLR p.Gly458Asp VAR_004062 rs755522396
32 PKLR p.Ala459Val VAR_004063
33 PKLR p.Val460Met VAR_004064 rs752034960
34 PKLR p.Ala468Val VAR_004065
35 PKLR p.Arg486Trp VAR_004066 rs116100695
36 PKLR p.Arg490Trp VAR_004067 rs200133000
37 PKLR p.Ala495Val VAR_004068 rs141560532
38 PKLR p.Arg498Cys VAR_004069 rs551883218
39 PKLR p.Arg498His VAR_004070 rs758327704
40 PKLR p.Arg510Gln VAR_004071 rs113403872
41 PKLR p.Arg532Gln VAR_004072 rs758278200
42 PKLR p.Arg532Trp VAR_004073 rs201255024
43 PKLR p.Val552Met VAR_004074 rs370316462
44 PKLR p.Arg559Gly VAR_004075
45 PKLR p.Asn566Lys VAR_004076
46 PKLR p.Ser80Pro VAR_011436
47 PKLR p.Arg86Pro VAR_011437
48 PKLR p.Ile90Asn VAR_011438
49 PKLR p.Gly95Arg VAR_011439 rs750857114
50 PKLR p.Gly111Arg VAR_011440

ClinVar genetic disease variations for Pyruvate Kinase Deficiency:

6 (show all 14)
id Gene Variation Type Significance SNP ID Assembly Location
1 PKLR PKLR, 1-BP DEL deletion Pathogenic
2 PKLR NM_000298.5(PKLR): c.487C> T (p.Arg163Cys) single nucleotide variant Pathogenic rs118204083 GRCh37 Chromosome 1, 155265248: 155265248
3 PKLR NM_000298.5(PKLR): c.1151C> T (p.Thr384Met) single nucleotide variant Pathogenic rs74315362 GRCh37 Chromosome 1, 155263347: 155263347
4 PKLR NM_000298.5(PKLR): c.1261C> A (p.Gln421Lys) single nucleotide variant Pathogenic rs118204084 GRCh37 Chromosome 1, 155263237: 155263237
5 PKLR NM_000298.5(PKLR): c.1436G> A (p.Arg479His) single nucleotide variant Pathogenic rs118204085 GRCh37 Chromosome 1, 155262968: 155262968
6 PKLR NM_000298.5(PKLR): c.1529G> A (p.Arg510Gln) single nucleotide variant Pathogenic rs113403872 GRCh37 Chromosome 1, 155261636: 155261636
7 PKLR NM_000298.5(PKLR): c.1456C> T (p.Arg486Trp) single nucleotide variant Pathogenic/Likely pathogenic rs116100695 GRCh37 Chromosome 1, 155261709: 155261709
8 PKLR NM_000298.5(PKLR): c.389C> A (p.Ser130Tyr) single nucleotide variant Pathogenic rs118204089 GRCh37 Chromosome 1, 155265346: 155265346
9 PKLR PKLR, -83G-C single nucleotide variant Pathogenic
10 PKLR PKLR, 1318G-T single nucleotide variant Pathogenic
11 PKLR PKLR, 1269G-A single nucleotide variant Pathogenic
12 PKLR PKLR, 1-BP DEL, 823G deletion Pathogenic
13 PKLR NM_000298.5(PKLR): c.721G> T (p.Glu241Ter) single nucleotide variant Pathogenic rs201953584 GRCh37 Chromosome 1, 155264517: 155264517
14 PKLR NM_000298.5(PKLR): c.391_393delATC (p.Ile131del) deletion Likely pathogenic rs886045351 GRCh38 Chromosome 1, 155295551: 155295553

Expression for Pyruvate Kinase Deficiency

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

Pathways for Pyruvate Kinase Deficiency

GO Terms for Pyruvate Kinase Deficiency

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

id Name GO ID Score Top Affiliating Genes
1 blood microparticle GO:0072562 9.13 HBA2 HBG2 SLC4A1
2 hemoglobin complex GO:0005833 8.62 HBA2 HBG2

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

(show all 15)
id Name GO ID Score Top Affiliating Genes
1 erythrocyte differentiation GO:0030218 9.55 EPO GATA1
2 bicarbonate transport GO:0015701 9.54 HBA2 SLC4A1
3 acute-phase response GO:0006953 9.52 EPO HFE
4 glycolytic process GO:0006096 9.51 PKLR PKM
5 response to interleukin-1 GO:0070555 9.49 EPO MTHFR
6 ATP biosynthetic process GO:0006754 9.48 PKLR PKM
7 response to axon injury GO:0048678 9.46 EPO NTRK1
8 response to electrical stimulus GO:0051602 9.43 EPO NTRK1
9 canonical glycolysis GO:0061621 9.4 PKLR PKM
10 positive regulation of Ras protein signal transduction GO:0046579 9.37 EPO NTRK1
11 response to nutrient GO:0007584 9.33 EPO PKLR PKM
12 oxygen transport GO:0015671 9.32 HBA2 HBG2
13 erythrocyte maturation GO:0043249 9.26 EPO G6PD
14 pyruvate biosynthetic process GO:0042866 8.96 PKLR PKM
15 response to hypoxia GO:0001666 8.92 EPO MTHFR PKLR PKM

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

id Name GO ID Score Top Affiliating Genes
1 NADP binding GO:0050661 9.26 G6PD MTHFR
2 oxygen transporter activity GO:0005344 9.16 HBA2 HBG2
3 potassium ion binding GO:0030955 8.96 PKLR PKM
4 pyruvate kinase activity GO:0004743 8.62 PKLR PKM

Sources for Pyruvate Kinase Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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