PKRD
MCID: PYR041
MIFTS: 59

Pyruvate Kinase Deficiency of Red Cells (PKRD)

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

Aliases & Classifications for Pyruvate Kinase Deficiency of Red Cells

MalaCards integrated aliases for Pyruvate Kinase Deficiency of Red Cells:

Name: Pyruvate Kinase Deficiency of Red Cells 57 12 53 75 29 6 15
Pyruvate Kinase Deficiency 57 76 53 25 37 13 55
Pk Deficiency 57 12 53 25 75
Hemolytic Anemia Due to Red Cell Pyruvate Kinase Deficiency 12 59 75
Pyruvate Kinase Deficiency of Erythrocyte 57 12 75
Pyruvate Kinase Deficiency of Erythrocytes 53 59
Hereditary Non-Spherocytic Hemolytic Anemia Due to Pyruvate Kinase Deficiency 75
Anemia, Hemolytic, Congenital Nonspherocytic 73
Pyruvate Kinase-Deficient Hemolytic Anemia 75
Pyruvate Kinase Deficiency, Red Cells 40
Red Cell Pyruvate Kinase Deficiency 75
Deficiency of Pyruvate Kinase 73
Hnsha 75
Pkrd 75
Pkd 25

Characteristics:

Orphanet epidemiological data:

59
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;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
variably severity
onset in infancy, but may not be diagnosed until later in mild cases
rare patients with homozygous null mutations have most severe disease


HPO:

32
pyruvate kinase deficiency of red cells:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Pyruvate Kinase Deficiency of Red Cells

NIH Rare Diseases : 53 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.  

MalaCards based summary : Pyruvate Kinase Deficiency of Red Cells, also known as pyruvate kinase deficiency, is related to congenital hemolytic anemia and hereditary spherocytosis, and has symptoms including icterus An important gene associated with Pyruvate Kinase Deficiency of Red Cells is PKLR (Pyruvate Kinase L/R), and among its related pathways/superpathways are Glycolysis / Gluconeogenesis and Purine metabolism. The drugs pyruvate and Adenosine have been mentioned in the context of this disorder. Affiliated tissues include spleen, bone and liver, and related phenotypes are splenomegaly and hydrops fetalis

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 : 57 Red cell pyruvate kinase deficiency is the most common cause of hereditary nonspherocytic hemolytic anemia. PK deficiency is also the most frequent enzyme abnormality of the glycolytic pathway (Zanella et al., 2005). (266200)

UniProtKB/Swiss-Prot : 75 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 : 76 Pyruvate kinase deficiency is an inherited metabolic disorder of the enzyme pyruvate kinase which... more...

Related Diseases for Pyruvate Kinase Deficiency of Red Cells

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

(show top 50) (show all 67)
# Related Disease Score Top Affiliating Genes
1 congenital hemolytic anemia 30.1 PKLR G6PD
2 hereditary spherocytosis 30.0 PKLR G6PD
3 neonatal jaundice 30.0 PKLR G6PD
4 congenital nonspherocytic hemolytic anemia 29.0 AMPD3 G6PD OTOR PFKM PKLR
5 pyruvate kinase deficiency, liver type 12.3
6 pyruvate kinase deficiency, muscle type 12.3
7 polycystic kidney disease 12.0
8 polycystic kidney disease 4 with or without polycystic liver disease 11.6
9 autosomal dominant polycystic kidney disease 11.4
10 episodic kinesigenic dyskinesia 1 11.4
11 cystic kidney disease 11.4
12 convulsions, familial infantile, with paroxysmal choreoathetosis 11.3
13 dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema 11.2
14 hemolytic anemia, nonspherocytic, due to hexokinase deficiency 11.2
15 polycystic kidney disease 3 with or without polycystic liver disease 11.2
16 polycystic liver disease 11.1
17 polycystic kidney disease, infantile severe, with tuberous sclerosis 11.0
18 glomerulocystic kidney disease with hyperuricemia and isosthenuria 11.0
19 polycystic kidney disease 2 with or without polycystic liver disease 11.0
20 paroxysmal exertion-induced dyskinesia 11.0
21 kidney disease 10.7
22 hemosiderosis 10.4
23 malaria 10.3
24 deficiency anemia 10.3
25 myxozoa 10.2
26 pancreatic cancer 10.1
27 thalassemia 10.1
28 phenylketonuria 10.0
29 hydrops fetalis, nonimmune, and/or atrial septal defect 10.0
30 leukemia 10.0
31 cholelithiasis 10.0
32 glucosephosphate dehydrogenase deficiency 10.0
33 sickle cell disease 10.0
34 fetal edema 10.0
35 hydrops fetalis 10.0
36 hyperinsulinism 10.0
37 pancreatitis 10.0
38 episodic ataxia 10.0
39 hypoxia 10.0
40 kernicterus 10.0 PKM G6PD
41 bilirubin metabolic disorder 9.9 PKM G6PD
42 glycogen storage disease v 9.9 PFKM AMPD3
43 glycogen storage disease vii 9.9 PFKM AMPD3
44 pulmonary hypertension, primary, 1 9.9
45 mitochondrial myopathy 9.9
46 myelofibrosis 9.9
47 insensitivity to pain, congenital, with anhidrosis 9.9
48 renal dysplasia, cystic 9.9
49 alpha-thalassemia 9.9
50 neuropathy, hereditary sensory and autonomic, type v 9.9

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



Diseases related to Pyruvate Kinase Deficiency of Red Cells

Symptoms & Phenotypes for Pyruvate Kinase Deficiency of Red Cells

Symptoms via clinical synopsis from OMIM:

57
Abdomen Spleen:
splenomegaly

Abdomen Liver:
jaundice

Growth Other:
intrauterine growth retardation, iugr (rare)

Hematology:
hemolytic anemia, chronic
severity of anemia can range from mild to life-threatening
anemia may be exacerbated during infection or pregnancy
increased red cell osmotic fragility

Abdomen Biliary Tract:
cholelithiasis
cholecystitis

Laboratory Abnormalities:
increased reticulocytes
decreased hemoglobin
increased unconjugated bilirubin
decreased red cell pyruvate kinase activity

Skin Nails Hair Skin:
jaundice (sometimes onset in the neonatal period)

Prenatal Manifestations Amniotic Fluid:
hydrops fetalis, non-immune (rare)


Clinical features from OMIM:

266200

Human phenotypes related to Pyruvate Kinase Deficiency of Red Cells:

59 32 (show all 22)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 splenomegaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0001744
2 hydrops fetalis 59 32 frequent (33%) Frequent (79-30%) HP:0001789
3 chronic hemolytic anemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0004870
4 reticulocytosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0001923
5 unconjugated hyperbilirubinemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0008282
6 prolonged neonatal jaundice 59 32 frequent (33%) Frequent (79-30%) HP:0006579
7 increased serum ferritin 59 32 frequent (33%) Frequent (79-30%) HP:0003281
8 increased serum iron 59 32 frequent (33%) Frequent (79-30%) HP:0003452
9 reduced red cell pyruvate kinase activity 59 32 hallmark (90%) Very frequent (99-80%) HP:0025109
10 congenital hemolytic anemia 59 32 frequent (33%) Frequent (79-30%) HP:0004804
11 poikilocytosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0004447
12 anisocytosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0011273
13 elevated transferrin saturation 59 32 occasional (7.5%) Occasional (29-5%) HP:0012463
14 anemia 59 Very frequent (99-80%)
15 intrauterine growth retardation 32 occasional (7.5%) HP:0001511
16 cholelithiasis 32 HP:0001081
17 jaundice 32 HP:0000952
18 cholecystitis 32 HP:0001082
19 abnormality of erythrocytes 59 Occasional (29-5%)
20 abnormality of the amniotic fluid 32 HP:0001560
21 nonimmune hydrops fetalis 32 occasional (7.5%) HP:0001790
22 increased red cell osmotic fragility 32 HP:0005502

UMLS symptoms related to Pyruvate Kinase Deficiency of Red Cells:


icterus

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

26 (show all 11)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-1 10.13 PKLR PKM PFKM
2 Decreased viability GR00221-A-2 10.13 PKLR PFKM
3 Decreased viability GR00221-A-3 10.13 PFKM
4 Decreased viability GR00221-A-4 10.13 PKLR PKM
5 Decreased viability GR00231-A 10.13 PKM
6 Decreased viability GR00301-A 10.13 PKLR
7 Decreased viability GR00342-S-1 10.13 PKM
8 Decreased viability GR00342-S-2 10.13 PKM
9 Decreased viability GR00342-S-3 10.13 PKLR PKM
10 Decreased viability GR00402-S-2 10.13 PKLR PKM PFKM
11 Decreased viability after gemcitabine stimulation GR00107-A-2 8.62 PFKM PKM

Drugs & Therapeutics for Pyruvate Kinase Deficiency of Red Cells

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 pyruvate Phase 3,Phase 2,Phase 1
2
Adenosine Approved, Investigational 58-61-7 60961

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Study to Evaluate Efficacy and Safety of AG-348 in Not Regularly Transfused Adult Participants With Pyruvate Kinase Deficiency (PKD) Recruiting NCT03548220 Phase 3 AG-348;Placebo
2 A Study Evaluating the Efficacy and Safety of AG-348 in Regularly Transfused Adult Participants With Pyruvate Kinase Deficiency (PKD) Recruiting NCT03559699 Phase 3 AG-348
3 A Study of AG-348 in Adult Patients With Pyruvate Kinase Deficiency Active, not recruiting NCT02476916 Phase 2 AG-348
4 A Safety and Tolerability Study of AG-519 in Healthy Subjects Terminated NCT02630927 Phase 1 AG-519;Placebo
5 Pyruvate Kinase Deficiency Global Longitudinal Registry Recruiting NCT03481738
6 Genotype -Phenotype Correlation of PKLR Variants With Pyruvate Kinase, 2,3-Diphosphglycerate and Adenosine Triphosphate Activities in Red Blood Cells of People With Sickle Cell Disease Recruiting NCT03685721
7 Pyruvate Kinase Deficiency Natural History Study Active, not recruiting NCT02053480

Search NIH Clinical Center for Pyruvate Kinase Deficiency of Red Cells

Genetic Tests for Pyruvate Kinase Deficiency of Red Cells

Genetic tests related to Pyruvate Kinase Deficiency of Red Cells:

# Genetic test Affiliating Genes
1 Pyruvate Kinase Deficiency of Red Cells 29 PKLR

Anatomical Context for Pyruvate Kinase Deficiency of Red Cells

MalaCards organs/tissues related to Pyruvate Kinase Deficiency of Red Cells:

41
Spleen, Bone, Liver, Testes, Kidney, Spinal Cord, Bone Marrow

Publications for Pyruvate Kinase Deficiency of Red Cells

Articles related to Pyruvate Kinase Deficiency of Red Cells:

(show top 50) (show all 291)
# Title Authors Year
1
Screening of hereditary spherocytosis and pyruvate kinase deficiency by automated blood count using erythrocytic and reticulocytic parameters. ( 30184319 )
2018
2
A New Variant of PKLR Gene Associated With Mild Hemolysis may be Responsible for the Misdiagnosis in Pyruvate Kinase Deficiency. ( 30028822 )
2018
3
Prevalence and management of iron overload in pyruvate kinase deficiency: report from the Pyruvate Kinase Deficiency Natural History Study. ( 30213831 )
2018
4
Addressing the diagnostic gaps in pyruvate kinase deficiency: Consensus recommendations on the diagnosis of pyruvate kinase deficiency. ( 30358897 )
2018
5
Appraisal of patient-reported outcome measures in analogous diseases and recommendations for use in phase II and III clinical trials of pyruvate kinase deficiency. ( 30456713 )
2018
6
Worldwide study of hematopoietic allogeneic stem cell transplantation in pyruvate kinase deficiency. ( 29242305 )
2018
7
Alu element insertion in PKLR gene as a novel cause of pyruvate kinase deficiency in Middle Eastern patients. ( 29288557 )
2018
8
A Case With Pyruvate Kinase Deficiency Remarkably Sensitive to Heat. ( 29309376 )
2018
9
Pyruvate kinase deficiency: novel mutations and a better understanding of the genotype-to-phenotype correlation in Brazilian patients. ( 29519365 )
2018
10
Novel mutations associated with pyruvate kinase deficiency in Brazil. ( 29519373 )
2018
11
Clinical spectrum of pyruvate kinase deficiency: data from the Pyruvate Kinase Deficiency Natural History Study. ( 29549173 )
2018
12
Successful Liver Transplants for Liver Failure Associated With Pyruvate Kinase Deficiency. ( 29610156 )
2018
13
The burden of disease in pyruvate kinase deficiency: Patients' perception of the impact on health-related quality of life. ( 29935049 )
2018
14
Molecular basis of pyruvate kinase deficiency among Tunisians: description of new mutations affecting coding and noncoding regions in the PKLR gene. ( 28133914 )
2017
15
Red cell pyruvate kinase deficiency in Spain: A study of 15 cases. ( 27871768 )
2017
16
The mouse Char10 locus regulates severity of pyruvate kinase deficiency and susceptibility to malaria. ( 28542307 )
2017
17
AG-348 enhances pyruvate kinase activity in red blood cells from patients with pyruvate kinase deficiency. ( 28760888 )
2017
18
Hereditary Xerocytosis due to Mutations in PIEZO1 Gene Associated with Heterozygous Pyruvate Kinase Deficiency and Beta-Thalassemia Trait in Two Unrelated Families. ( 28367341 )
2017
19
Rapidly fatal Klebsiella pneumoniae sepsis in a patient with pyruvate kinase deficiency and asplenia. ( 29284613 )
2017
20
Cord blood transplantation in a young child with pyruvate kinase deficiency. ( 27460399 )
2016
21
Congenital dyserythropoietic anemia associated to a GATA1 mutation aggravated by pyruvate kinase deficiency. ( 27342114 )
2016
22
Plesiomonas shigelloides Septic Shock Leading to Death of Postsplenectomy Patient with Pyruvate Kinase Deficiency and Hemochromatosis. ( 27610253 )
2016
23
[Analysis and prenatal diagnosis of PKLR gene mutations in a family with pyruvate kinase deficiency]. ( 26829734 )
2016
24
Diagnosis of Pyruvate Kinase Deficiency. ( 26836632 )
2016
25
Mitral Valve Replacement With Cardiopulmonary Bypass in a Patient With Pyruvate Kinase Deficiency. ( 27498259 )
2016
26
Siblings with severe pyruvate kinase deficiency and a complex genotype. ( 27354418 )
2016
27
Safe and Efficient Preclinical Gene Therapy for Pyruvate Kinase Deficiency. ( 27138040 )
2016
28
Erythrocyte pyruvate kinase deficiency: 2015 status report. ( 26087744 )
2015
29
Cholestasis and Hepatic Failure in a Neonate: A Case Report of Severe Pyruvate Kinase Deficiency. ( 26459649 )
2015
30
Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells. ( 26549847 )
2015
31
Real-time PCR genotyping assay for feline erythrocyte pyruvate kinase deficiency and mutant allele frequency in purebred cats in Japan. ( 25716288 )
2015
32
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
33
Dyserythropoiesis in a child with pyruvate kinase deficiency and coexistent unilateral multicystic dysplastic kidney. ( 24481986 )
2014
34
Partial pyruvate kinase deficiency aggravates the phenotypic expression of band 3 deficiency in a family with hereditary spherocytosis. ( 25388786 )
2014
35
A novel and a previously described compound heterozygous PKLR gene mutations causing pyruvate kinase deficiency in a Chinese child. ( 24601847 )
2014
36
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
37
Correction: Stem Cell Selection In Vivo Using Foamy Vectors Cures Canine Pyruvate Kinase Deficiency. ( 24204532 )
2013
38
A case of severe pyruvate kinase deficiency in a primigravida: successful outcome. ( 27757165 )
2013
39
Erythrocyte pyruvate kinase deficiency in three West Highland white terriers in Ireland and the UK. ( 23842571 )
2013
40
Molecular and clinical heterogeneity in pyruvate kinase deficiency in India. ( 23770304 )
2013
41
Erythrocyte pyruvate kinase deficiency mutation identified in multiple breeds of domestic cats. ( 23110753 )
2012
42
Pyruvate kinase deficiency in sub-Saharan Africa: identification of a highly frequent missense mutation (G829A;Glu277Lys) and association with malaria. ( 23082140 )
2012
43
Stem cell selection in vivo using foamy vectors cures canine pyruvate kinase deficiency. ( 23028826 )
2012
44
Erythrocyte pyruvate kinase deficiency in an old-order Amish cohort: longitudinal risk and disease management. ( 21815188 )
2011
45
Six children with pyruvate kinase deficiency from one small town: molecular characterization of the PK-LR gene. ( 21784452 )
2011
46
First reported case of prenatal diagnosis for pyruvate kinase deficiency in a Chinese family. ( 22183074 )
2011
47
Pyruvate kinase deficiency as a cause of extreme hyperbilirubinemia in neonates from a polygamist community. ( 20182430 )
2010
48
Red cell pyruvate kinase deficiency in Southern Sardinia. ( 20870434 )
2010
49
Glucose-6-phosphate dehydrogenase and red cell pyruvate kinase deficiency in neonatal jaundice cases in egypt. ( 20426517 )
2010
50
Rescue of pyruvate kinase deficiency in mice by gene therapy using the human isoenzyme. ( 19755962 )
2009

Variations for Pyruvate Kinase Deficiency of Red Cells

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

75 (show top 50) (show all 100)
# 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 rs981505482
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 rs116732926
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 rs102368944
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 rs918627824

ClinVar genetic disease variations for Pyruvate Kinase Deficiency of Red Cells:

6 (show top 50) (show all 95)
# 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.487C> T (p.Arg163Cys) single nucleotide variant Pathogenic rs118204083 GRCh38 Chromosome 1, 155295457: 155295457
4 PKLR NM_000298.5(PKLR): c.1151C> T (p.Thr384Met) single nucleotide variant Pathogenic rs74315362 GRCh37 Chromosome 1, 155263347: 155263347
5 PKLR NM_000298.5(PKLR): c.1151C> T (p.Thr384Met) single nucleotide variant Pathogenic rs74315362 GRCh38 Chromosome 1, 155293556: 155293556
6 PKLR NM_000298.5(PKLR): c.1261C> A (p.Gln421Lys) single nucleotide variant Pathogenic rs118204084 GRCh37 Chromosome 1, 155263237: 155263237
7 PKLR NM_000298.5(PKLR): c.1261C> A (p.Gln421Lys) single nucleotide variant Pathogenic rs118204084 GRCh38 Chromosome 1, 155293446: 155293446
8 PKLR NM_000298.5(PKLR): c.1436G> A (p.Arg479His) single nucleotide variant Pathogenic rs118204085 GRCh37 Chromosome 1, 155262968: 155262968
9 PKLR NM_000298.5(PKLR): c.1436G> A (p.Arg479His) single nucleotide variant Pathogenic rs118204085 GRCh38 Chromosome 1, 155293177: 155293177
10 PKLR NM_000298.5(PKLR): c.1529G> A (p.Arg510Gln) single nucleotide variant Pathogenic rs113403872 GRCh37 Chromosome 1, 155261636: 155261636
11 PKLR NM_000298.5(PKLR): c.1529G> A (p.Arg510Gln) single nucleotide variant Pathogenic rs113403872 GRCh38 Chromosome 1, 155291845: 155291845
12 PKLR NM_000298.5(PKLR): c.1456C> T (p.Arg486Trp) single nucleotide variant Likely pathogenic rs116100695 GRCh37 Chromosome 1, 155261709: 155261709
13 PKLR NM_000298.5(PKLR): c.1456C> T (p.Arg486Trp) single nucleotide variant Likely pathogenic rs116100695 GRCh38 Chromosome 1, 155291918: 155291918
14 PKLR NM_000298.5(PKLR): c.389C> A (p.Ser130Tyr) single nucleotide variant Pathogenic rs118204089 GRCh37 Chromosome 1, 155265346: 155265346
15 PKLR NM_000298.5(PKLR): c.389C> A (p.Ser130Tyr) single nucleotide variant Pathogenic rs118204089 GRCh38 Chromosome 1, 155295555: 155295555
16 PKLR PKLR, -83G-C single nucleotide variant Pathogenic
17 PKLR NM_000298.5: c.1318G> T single nucleotide variant Pathogenic
18 PKLR NM_000298.5: c.1269G> A single nucleotide variant Pathogenic
19 PKLR PKLR, 1-BP DEL, 823G deletion Pathogenic
20 PKLR NM_000298.5(PKLR): c.1379T> C (p.Val460Ala) single nucleotide variant Uncertain significance rs149946271 GRCh37 Chromosome 1, 155263025: 155263025
21 PKLR NM_000298.5(PKLR): c.1379T> C (p.Val460Ala) single nucleotide variant Uncertain significance rs149946271 GRCh38 Chromosome 1, 155293234: 155293234
22 PKLR NM_000298.5(PKLR): c.*13T> C single nucleotide variant Benign rs1052177 GRCh37 Chromosome 1, 155260350: 155260350
23 PKLR NM_000298.5(PKLR): c.*13T> C single nucleotide variant Benign rs1052177 GRCh38 Chromosome 1, 155290559: 155290559
24 PKLR NM_000298.5(PKLR): c.1705C> A (p.Arg569=) single nucleotide variant Benign rs1052176 GRCh37 Chromosome 1, 155260383: 155260383
25 PKLR NM_000298.5(PKLR): c.1705C> A (p.Arg569=) single nucleotide variant Benign rs1052176 GRCh38 Chromosome 1, 155290592: 155290592
26 PKLR NM_000298.5(PKLR): c.721G> T (p.Glu241Ter) single nucleotide variant Pathogenic rs201953584 GRCh37 Chromosome 1, 155264517: 155264517
27 PKLR NM_000298.5(PKLR): c.721G> T (p.Glu241Ter) single nucleotide variant Pathogenic rs201953584 GRCh38 Chromosome 1, 155294726: 155294726
28 PKLR NM_000298.5(PKLR): c.*1041C> T single nucleotide variant Uncertain significance rs528740550 GRCh37 Chromosome 1, 155259322: 155259322
29 PKLR NM_000298.5(PKLR): c.*1041C> T single nucleotide variant Uncertain significance rs528740550 GRCh38 Chromosome 1, 155289531: 155289531
30 PKLR NM_000298.5(PKLR): c.*1040G> A single nucleotide variant Benign rs8847 GRCh37 Chromosome 1, 155259323: 155259323
31 PKLR NM_000298.5(PKLR): c.*1040G> A single nucleotide variant Benign rs8847 GRCh38 Chromosome 1, 155289532: 155289532
32 PKLR NM_000298.5(PKLR): c.*13T> G single nucleotide variant Uncertain significance rs1052177 GRCh37 Chromosome 1, 155260350: 155260350
33 PKLR NM_000298.5(PKLR): c.*13T> G single nucleotide variant Uncertain significance rs1052177 GRCh38 Chromosome 1, 155290559: 155290559
34 PKLR NM_000298.5(PKLR): c.1468C> T (p.Arg490Trp) single nucleotide variant Uncertain significance rs200133000 GRCh37 Chromosome 1, 155261697: 155261697
35 PKLR NM_000298.5(PKLR): c.1468C> T (p.Arg490Trp) single nucleotide variant Uncertain significance rs200133000 GRCh38 Chromosome 1, 155291906: 155291906
36 PKLR NM_000298.5(PKLR): c.1365C> T (p.Thr455=) single nucleotide variant Uncertain significance rs146708702 GRCh37 Chromosome 1, 155263039: 155263039
37 PKLR NM_000298.5(PKLR): c.1365C> T (p.Thr455=) single nucleotide variant Uncertain significance rs146708702 GRCh38 Chromosome 1, 155293248: 155293248
38 PKLR NM_000298.5(PKLR): c.*1067T> C single nucleotide variant Uncertain significance rs559809916 GRCh37 Chromosome 1, 155259296: 155259296
39 PKLR NM_000298.5(PKLR): c.*1067T> C single nucleotide variant Uncertain significance rs559809916 GRCh38 Chromosome 1, 155289505: 155289505
40 PKLR NM_000298.5(PKLR): c.*779C> A single nucleotide variant Uncertain significance rs886045348 GRCh37 Chromosome 1, 155259584: 155259584
41 PKLR NM_000298.5(PKLR): c.*779C> A single nucleotide variant Uncertain significance rs886045348 GRCh38 Chromosome 1, 155289793: 155289793
42 PKLR NM_000298.5(PKLR): c.*582G> A single nucleotide variant Uncertain significance rs758139094 GRCh37 Chromosome 1, 155259781: 155259781
43 PKLR NM_000298.5(PKLR): c.*582G> A single nucleotide variant Uncertain significance rs758139094 GRCh38 Chromosome 1, 155289990: 155289990
44 PKLR NM_000298.5(PKLR): c.*346_*348delAGG deletion Uncertain significance rs556763356 GRCh37 Chromosome 1, 155260015: 155260017
45 PKLR NM_000298.5(PKLR): c.*346_*348delAGG deletion Uncertain significance rs556763356 GRCh38 Chromosome 1, 155290224: 155290226
46 PKLR NM_000298.5(PKLR): c.*275C> T single nucleotide variant Uncertain significance rs886045350 GRCh37 Chromosome 1, 155260088: 155260088
47 PKLR NM_000298.5(PKLR): c.*275C> T single nucleotide variant Uncertain significance rs886045350 GRCh38 Chromosome 1, 155290297: 155290297
48 PKLR NM_000298.5(PKLR): c.1686C> T (p.Ser562=) single nucleotide variant Uncertain significance rs140859641 GRCh37 Chromosome 1, 155260402: 155260402
49 PKLR NM_000298.5(PKLR): c.1686C> T (p.Ser562=) single nucleotide variant Uncertain significance rs140859641 GRCh38 Chromosome 1, 155290611: 155290611
50 PKLR NM_000298.5(PKLR): c.918C> A (p.His306Gln) single nucleotide variant Uncertain significance rs141571402 GRCh37 Chromosome 1, 155264320: 155264320

Expression for Pyruvate Kinase Deficiency of Red Cells

Search GEO for disease gene expression data for Pyruvate Kinase Deficiency of Red Cells.

Pathways for Pyruvate Kinase Deficiency of Red Cells

Pathways related to Pyruvate Kinase Deficiency of Red Cells according to KEGG:

37
# Name Kegg Source Accession
1 Glycolysis / Gluconeogenesis hsa00010
2 Purine metabolism hsa00230
3 Pyruvate metabolism hsa00620

Pathways related to Pyruvate Kinase Deficiency of Red Cells according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.31 G6PD PFKM PKLR PKM
2
Show member pathways
12.19 PFKM PKLR PKM
3
Show member pathways
12.15 AMPD3 PKLR PKM
4
Show member pathways
11.46 PKLR PKM
5
Show member pathways
11.34 PFKM PKLR PKM
6
Show member pathways
11.27 G6PD PFKM
7
Show member pathways
11.25 G6PD PFKM PKLR PKM
8
Show member pathways
10.99 PKLR PKM
9 10.94 G6PD PFKM PKM
10
Show member pathways
10.47 PKLR PKM

GO Terms for Pyruvate Kinase Deficiency of Red Cells

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

# Name GO ID Score Top Affiliating Genes
1 ficolin-1-rich granule lumen GO:1904813 8.96 AMPD3 PKM
2 secretory granule lumen GO:0034774 8.62 AMPD3 PKM

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

# Name GO ID Score Top Affiliating Genes
1 phosphorylation GO:0016310 9.63 PFKM PKLR PKM
2 cellular response to insulin stimulus GO:0032869 9.43 PKLR PKM
3 metabolic process GO:0008152 9.43 PFKM PKLR PKM
4 response to nutrient GO:0007584 9.4 PKLR PKM
5 glucose metabolic process GO:0006006 9.37 G6PD PKM
6 ATP biosynthetic process GO:0006754 9.32 PKLR PKM
7 pyruvate biosynthetic process GO:0042866 9.16 PKLR PKM
8 glycolytic process GO:0006096 9.13 PFKM PKLR PKM
9 canonical glycolysis GO:0061621 8.8 PFKM PKLR PKM

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

# Name GO ID Score Top Affiliating Genes
1 kinase activity GO:0016301 9.43 PFKM PKLR PKM
2 catalytic activity GO:0003824 9.33 PFKM PKLR PKM
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 of Red Cells

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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