PKRD
MCID: PYR041
MIFTS: 57

Pyruvate Kinase Deficiency of Red Cells (PKRD)

Categories: Blood diseases, Genetic diseases, Immune diseases, Liver 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 56 12 52 73 29 6 15
Pyruvate Kinase Deficiency 56 74 52 25 36 13 54
Pk Deficiency 56 12 52 25 73
Hemolytic Anemia Due to Red Cell Pyruvate Kinase Deficiency 12 58 73
Pyruvate Kinase Deficiency of Erythrocyte 56 12 73
Pyruvate Kinase Deficiency of Erythrocytes 52 58
Hereditary Non-Spherocytic Hemolytic Anemia Due to Pyruvate Kinase Deficiency 73
Anemia, Hemolytic, Congenital Nonspherocytic 71
Pyruvate Kinase-Deficient Hemolytic Anemia 73
Pyruvate Kinase Deficiency, Red Cells 39
Red Cell Pyruvate Kinase Deficiency 73
Deficiency of Pyruvate Kinase 71
Hnsha 73
Pkrd 73
Pkd 25

Characteristics:

Orphanet epidemiological data:

58
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:

56
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:

31
pyruvate kinase deficiency of red cells:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Inborn errors of metabolism
Rare haematological diseases


External Ids:

Disease Ontology 12 DOID:0111077
OMIM 56 266200
KEGG 36 H01096
MeSH 43 D000746
ICD10 via Orphanet 33 D55.2
UMLS via Orphanet 72 C0340968
Orphanet 58 ORPHA766
UMLS 71 C0002882 C0340968

Summaries for Pyruvate Kinase Deficiency of Red Cells

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. Chronic hemolytic anemia can lead to unusually pale skin (pallor), yellowing of the eyes and skin (jaundice), extreme tiredness (fatigue), shortness of breath (dyspnea), and a rapid heart rate (tachycardia). An enlarged spleen (splenomegaly), an excess of iron in the blood, and small pebble-like deposits in the gallbladder or bile ducts (gallstones) are also common in this disorder. In people with pyruvate kinase deficiency, hemolytic anemia and associated complications may range from mild to severe. Some affected individuals have few or no symptoms. Severe cases can be life-threatening in infancy, and such affected individuals may require regular blood transfusions to survive. The symptoms of this disorder may get worse during an infection or pregnancy.

MalaCards based summary : Pyruvate Kinase Deficiency of Red Cells, also known as pyruvate kinase deficiency, is related to glucosephosphate dehydrogenase deficiency and kernicterus, 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, liver and kidney, and related phenotypes are splenomegaly and chronic hemolytic anemia

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.

NIH Rare Diseases : 52 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.

OMIM : 56 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)

KEGG : 36 Pyruvate kinase (PK) deficiency is inherited metabolic disorder caused by mutations in PKLR that encodes both L-PK (expressed in liver, renal cortex, and small intestine) and R-PK (restricted to erythrocytes). The symptoms include jaundice, enlargement of the spleen, and hemolysis, leading to anemia. One hundred fifty-eight mutations associated with non-spherocytic haemolytic anaemia and eight polymorphic sites have been so far reported in the PKLR gene. It has also been found that a specific mutation in the PKLR gene causes hereditary increase of red blood cell ATP.

UniProtKB/Swiss-Prot : 73 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 : 74 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 172)
# Related Disease Score Top Affiliating Genes
1 glucosephosphate dehydrogenase deficiency 30.4 PKLR G6PD
2 kernicterus 30.3 PKM G6PD
3 factor xii deficiency 29.8 KLKB1 F11
4 hereditary spherocytosis 29.7 SEC23B PKLR PIEZO1 G6PD
5 hereditary elliptocytosis 29.3 SEC23B PIEZO1 G6PD
6 hypertension, essential 27.6 PRCP KNG1 KLKB1 KLK4 BDKRB2
7 congenital nonspherocytic hemolytic anemia 26.7 VNN2 SEC23B PRCP PKLR PIEZO1 PFKM
8 pyruvate kinase deficiency, liver type 12.5
9 polycystic kidney disease 12.2
10 polycystic kidney disease 4 with or without polycystic liver disease 12.0
11 episodic kinesigenic dyskinesia 1 11.9
12 cystic kidney disease 11.9
13 convulsions, familial infantile, with paroxysmal choreoathetosis 11.8
14 autosomal dominant polycystic kidney disease 11.6
15 polycystic kidney disease 2 with or without polycystic liver disease 11.5
16 dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema 11.4
17 hemolytic anemia, nonspherocytic, due to hexokinase deficiency 11.4
18 polycystic kidney disease 3 with or without polycystic liver disease 11.4
19 polycystic kidney disease, infantile severe, with tuberous sclerosis 11.3
20 polycystic liver disease 11.3
21 glomerulocystic kidney disease with hyperuricemia and isosthenuria 11.1
22 congenital hepatic fibrosis 11.1
23 paroxysmal exertion-induced dyskinesia 11.1
24 paroxysmal dyskinesia 11.1
25 kidney disease 10.8
26 hemosiderosis 10.5
27 rare hereditary hemochromatosis 10.5
28 congenital hemolytic anemia 10.5
29 thalassemia 10.4
30 bilirubin metabolic disorder 10.4
31 splenomegaly 10.4
32 hemolytic anemia 10.3
33 hemochromatosis, type 1 10.3
34 neonatal jaundice 10.3
35 end stage renal failure 10.3
36 myxozoa 10.3
37 polycystic kidney disease 1 with or without polycystic liver disease 10.2
38 helix syndrome 10.2
39 prrt2-associated paroxysmal movement disorders 10.2
40 malaria 10.2
41 autosomal recessive disease 10.2
42 blood group incompatibility 10.2 PKM G6PD
43 endosteal hyperostosis, autosomal dominant 10.2
44 gallbladder disease 1 10.2
45 beta-thalassemia 10.2
46 hemoglobinopathy 10.2
47 pancreatic cancer 10.1
48 werner syndrome 10.1
49 lung cancer susceptibility 3 10.1
50 pertussis 10.1

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

Human phenotypes related to Pyruvate Kinase Deficiency of Red Cells:

58 31 (show all 22)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 splenomegaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001744
2 chronic hemolytic anemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0004870
3 reticulocytosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0001923
4 unconjugated hyperbilirubinemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0008282
5 reduced red cell pyruvate kinase activity 58 31 hallmark (90%) Very frequent (99-80%) HP:0025109
6 hydrops fetalis 58 31 frequent (33%) Frequent (79-30%) HP:0001789
7 prolonged neonatal jaundice 58 31 frequent (33%) Frequent (79-30%) HP:0006579
8 increased serum ferritin 58 31 frequent (33%) Frequent (79-30%) HP:0003281
9 increased serum iron 58 31 frequent (33%) Frequent (79-30%) HP:0003452
10 congenital hemolytic anemia 58 31 frequent (33%) Frequent (79-30%) HP:0004804
11 elevated transferrin saturation 58 31 occasional (7.5%) Occasional (29-5%) HP:0012463
12 poikilocytosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0004447
13 anisocytosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0011273
14 intrauterine growth retardation 31 occasional (7.5%) HP:0001511
15 nonimmune hydrops fetalis 31 occasional (7.5%) HP:0001790
16 anemia 58 Very frequent (99-80%)
17 cholelithiasis 31 HP:0001081
18 jaundice 31 HP:0000952
19 cholecystitis 31 HP:0001082
20 abnormal erythrocyte morphology 58 Occasional (29-5%)
21 increased red cell osmotic fragility 31 HP:0005502
22 abnormality of the amniotic fluid 31 HP:0001560

Symptoms via clinical synopsis from OMIM:

56
Abdomen Spleen:
splenomegaly

Abdomen Liver:
jaundice

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)

Abdomen Biliary Tract:
cholelithiasis
cholecystitis

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

Growth Other:
intrauterine growth retardation, iugr (rare)

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

Clinical features from OMIM:

266200

UMLS symptoms related to Pyruvate Kinase Deficiency of Red Cells:


icterus

MGI Mouse Phenotypes related to Pyruvate Kinase Deficiency of Red Cells:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.32 BDKRB2 F11 G6PD KLK4 KLKB1 PFKM

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 1
2
Adenosine Approved, Investigational 58-61-7 60961

Interventional clinical trials:

(show all 12)
# Name Status NCT ID Phase Drugs
1 An Open-Label Study To Evaluate the Efficacy and Safety of AG-348 in Regularly Transfused Adult Subjects With Pyruvate Kinase (PK) Deficiency Recruiting NCT03559699 Phase 3 AG-348
2 An Open-Label, Multicenter, Extension Study of AG-348 in Adult Subjects With Pyruvate Kinase Deficiency Previously Enrolled in AG-348 Studies Recruiting NCT03853798 Phase 3 AG-348
3 A Phase 3, Randomized, Double-Blind, Placebo-Controlled Study to Evaluate the Efficacy and Safety of AG-348 in Not Regularly Transfused Adult Subjects With Pyruvate Kinase Deficiency Recruiting NCT03548220 Phase 3 AG-348;Placebo
4 A Phase 2, Open Label, Randomized, Dose Ranging, Safety, Efficacy, Pharmacokinetic and Pharmacodynamic Study of AG-348 in Adult Patients With Pyruvate Kinase Deficiency Active, not recruiting NCT02476916 Phase 2 AG-348
5 Gene Therapy for Pyruvate Kinase Deficiency (PKD): A Phase I Clinical Trial to Evaluate the Safety of the Infusion of Autologous CD34+ Cells Transduced With a Lentiviral Vector Carrying the Codon Optimized Red Cell Pyruvate Kinase (coRPK) Gene in Adult and Pediatric Subjects With PKD Recruiting NCT04105166 Phase 1
6 A Pilot Study to Evaluate the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of Escalating Multiple Oral Doses of AG-348 in Subjects With Stable Sickle Cell Disease Recruiting NCT04000165 Phase 1 AG-348
7 A Phase I Randomized, Double-blind, Five-Part Study to Assess the Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of Single and Multiple Ascending Oral Doses of AG-519, the Relative Bioavailability of Prototype Tablet Formulations Compared With a Suspension Formulation, and to Evaluate the Pharmacokinetics of a Selected Tablet Formulation Under Fed and Fasted Conditions in Healthy Subjects Terminated NCT02630927 Phase 1 AG-519;Placebo
8 Pyruvate Kinase Deficiency Global Longitudinal Registry Recruiting NCT03481738
9 Genotype -Phenotype Correlation of PKLR Variants With Pyruvate Kinase, 2,3-Diphosphglycerate and ATP Activities in Red Blood Cells of Patients With Sickle Cell Disease Recruiting NCT03685721
10 Pyruvate Kinase Deficiency (PKD) Natural History Study Active, not recruiting NCT02053480
11 Pyruvate Kinase Deficiency Epidemiological Study. An International, Multicentre, Epidemiological Observational Study Not yet recruiting NCT03866590
12 Gall Bladder Status Among Children With Chronic Haemolytic Anemia Attending to Assuit University Children Hospital Not yet recruiting NCT03533322

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:

40
Spleen, Liver, Kidney, Skin, Eye, Cortex, Heart

Publications for Pyruvate Kinase Deficiency of Red Cells

Articles related to Pyruvate Kinase Deficiency of Red Cells:

(show top 50) (show all 504)
# Title Authors PMID Year
1
Molecular study of pyruvate kinase deficient patients with hereditary nonspherocytic hemolytic anemia. 56 6
7706479 1995
2
cDNA cloning of human R-type pyruvate kinase and identification of a single amino acid substitution (Thr384----Met) affecting enzymatic stability in a pyruvate kinase variant (PK Tokyo) associated with hereditary hemolytic anemia. 56 6
1896471 1991
3
Hereditary disorders in Saguenay-Lac-St-Jean (Quebec, Canada). 56 6
1937486 1991
4
PYRUVATE KINASE DEFICIENT HEMOLYTIC ANEMIA IN AN AMISH ISOLATE. 56 6
14255553 1965
5
Hereditary non-spherocytic hemolytic anemia of the pyruvate-kinase deficient type. 56 6
14014643 1963
6
Molecular characterization of the PK-LR gene in pyruvate kinase deficient Spanish patients. Red Cell Pathology Group of the Spanish Society of Haematology (AEHH). 54 61 6
9827908 1998
7
Pyruvate kinase deficiency and malaria. 61 6
18420493 2008
8
Pyruvate kinase deficiency in France: a 3-year study reveals 27 new mutations. 61 56
16704447 2006
9
Red cell pyruvate kinase deficiency: molecular and clinical aspects. 61 56
15982340 2005
10
Red cell pyruvate kinase deficiency: 17 new mutations of the PK-LR gene. 61 56
15953013 2005
11
PK Aarau: first homozygous nonsense mutation causing pyruvate kinase deficiency. 61 6
15491302 2004
12
Disruption of a novel regulatory element in the erythroid-specific promoter of the human PKLR gene causes severe pyruvate kinase deficiency. 61 6
12393511 2003
13
Human erythrocyte pyruvate kinase: characterization of the recombinant enzyme and a mutant form (R510Q) causing nonspherocytic hemolytic anemia. 61 6
11698298 2001
14
Molecular characterization of the PK-LR gene in sixteen pyruvate kinase-deficient patients. 61 6
11328279 2001
15
Prevalence of pyruvate kinase deficiency in northern European population in the north of England. Northern Region Haematologists Group. 61 56
11186276 2000
16
A new sickle cell disease phenotype associating Hb S trait, severe pyruvate kinase deficiency (PK Conakry), and an alpha2 globin gene variant (Hb Conakry). 61 6
9886305 1998
17
Prenatal diagnosis of pyruvate kinase deficiency. 61 56
7919353 1994
18
Molecular abnormality of erythrocyte pyruvate kinase deficiency in the Amish. 61 6
8161798 1994
19
Fetal anaemia due to pyruvate kinase deficiency. 61 56
8285758 1993
20
Hereditary nonspherocytic hemolytic anemia due to pyruvate kinase deficiency: a prevalence study in Quebec (Canada). 61 56
1511997 1992
21
Point mutations in the L-type pyruvate kinase gene of two children with hemolytic anemia caused by pyruvate kinase deficiency. 61 6
2018831 1991
22
Elevated pyruvate kinase activity in patients with hemolytic anemia due to red cell pyruvate kinase "deficiency". 61 56
3674096 1987
23
Erythrocytic pyruvate kinase deficiency and hemolytic anemia inherited as a dominant trait. 61 56
6475936 1984
24
Erythrocyte pyruvate kinase deficiency in the Ohio Amish: origin and characterization of the mutant enzyme. 61 56
6731438 1984
25
Biochemical characterization of three mutant isozymes of erythrocyte pyruvate kinase: PK-"Gainesville," PK-"San Juan," and PK-"Cape Canaveral". 61 56
6859032 1983
26
Erythrocyte pyruvate kinase deficiency. A kinetic study of the membrane-localised and cytoplasmatic enzyme from six patients. 61 56
6851994 1983
27
Pyruvate kinase deficiency: characterization of two new genetic variants. 61 56
7151276 1982
28
Quinine protects pyruvate-kinase deficient red cells from dehydration. 61 56
547736 1979
29
Hereditary pyruvate kinase deficiency: role of the abnormal enzyme in red cell pathophysiology. 61 56
728372 1978
30
A monomeric form of pyruvate kinase in human pyruvate kinase deficiency. 61 56
15247 1977
31
Red cell pyruvate kinase deficiency: adverse effect of oral contraceptives. 61 56
402766 1977
32
Inherited erythrocyte pyruvate kinase deficiency: Studies on 15 members of two related families. 61 56
190844 1977
33
Salicylate-induced injury of pyruvate-kinase-deficient erythrocytes. 61 56
1256482 1976
34
Congenital hemolytic anemia in the Basenji dog due to erythrocyte pyruvate kinase deficiency. 61 56
4251418 1971
35
The polymorphism of nucleosid effect in pyruvate kinase deficiency. 61 56
5451691 1970
36
A low Km phosphoenolpyruvate mutant in the Amish with red cell pyruvate kinase deficiency. 61 56
5806438 1969
37
Erythrocyte pyruvate kinase deficiency in non-spherocytic hemolytic anemia: a system of multiple genetic markers? 61 56
5658389 1968
38
Pyruvate kinase deficiency and related disorders of red cell glycolysis. 61 56
5332174 1966
39
Red cell pyruvate kinase deficiency. The effect of splenectomy. 61 56
5940199 1966
40
Spectrum of novel mutations in the human PKLR gene in pyruvate kinase-deficient Indian patients with heterogeneous clinical phenotypes. 6
18759866 2009
41
Structure and function of human erythrocyte pyruvate kinase. Molecular basis of nonspherocytic hemolytic anemia. 6
11960989 2002
42
Molecular analysis of 29 pyruvate kinase-deficient patients from central Europe with hereditary hemolytic anemia. 6
9057665 1997
43
Five unknown mutations in the LR pyruvate kinase gene associated with severe hereditary nonspherocytic haemolytic anaemia in France. 56
8616073 1996
44
Molecular basis of erythroenzymopathies associated with hereditary hemolytic anemia: tabulation of mutant enzymes. 56
8579052 1996
45
Mutations in pyruvate kinase. 56
8664896 1996
46
Hematologically important mutations: red cell pyruvate kinase. 56
8807089 1996
47
Identical point mutations of the R-type pyruvate kinase (PK) cDNA found in unrelated PK variants associated with hereditary hemolytic anemia. 6
1536957 1992
48
Pyruvate kinase Greensboro. A four-generation study of a high K0.5s (phosphoenolpyruvate) variant. 56
3416067 1988
49
Human liver type pyruvate kinase: complete amino acid sequence and the expression in mammalian cells. 56
3126495 1988
50
Pyruvate kinase isozyme (PK-Greenville) with defective allosteric activation by fructose-1,6-diphosphate: the role of F-1,6-P modulation in normal erythrocyte metabolism. 56
6626748 1983

Variations for Pyruvate Kinase Deficiency of Red Cells

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

6 (show top 50) (show all 58) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PKLR NM_000298.6(PKLR):c.389C>A (p.Ser130Tyr)SNV Pathogenic 1514 rs118204089 1:155265346-155265346 1:155295555-155295555
2 PKLR PKLR, -83G-CSNV Pathogenic 1515
3 PKLR NM_000298.6(PKLR):c.1318G>T (p.Glu440Ter)SNV Pathogenic 1516 rs771145576 1:155263086-155263086 1:155293295-155293295
4 PKLR NM_000298.6(PKLR):c.1269G>A (p.Ala423=)SNV Pathogenic 1517 rs774652817 1:155263229-155263229 1:155293438-155293438
5 PKLR PKLR, 1-BP DEL, 823Gdeletion Pathogenic 1518
6 PKLR PKLR, 1-BP DELdeletion Pathogenic 1505
7 PKLR NM_000298.6(PKLR):c.487C>T (p.Arg163Cys)SNV Pathogenic 1506 rs118204083 1:155265248-155265248 1:155295457-155295457
8 PKLR NM_000298.6(PKLR):c.1151C>T (p.Thr384Met)SNV Pathogenic 1507 rs74315362 1:155263347-155263347 1:155293556-155293556
9 PKLR NM_000298.6(PKLR):c.1261C>A (p.Gln421Lys)SNV Pathogenic 1509 rs118204084 1:155263237-155263237 1:155293446-155293446
10 PKLR NM_000298.6(PKLR):c.1436G>A (p.Arg479His)SNV Pathogenic 1510 rs118204085 1:155262968-155262968 1:155293177-155293177
11 PKLR NM_000298.6(PKLR):c.1529G>A (p.Arg510Gln)SNV Pathogenic 1511 rs113403872 1:155261636-155261636 1:155291845-155291845
12 PKLR NM_000298.6(PKLR):c.721G>T (p.Glu241Ter)SNV Pathogenic 280113 rs201953584 1:155264517-155264517 1:155294726-155294726
13 PKLR NM_000298.6(PKLR):c.331G>A (p.Gly111Arg)SNV Pathogenic 522658 rs918627824 1:155265500-155265500 1:155295709-155295709
14 PKLR NM_000298.6(PKLR):c.1511G>A (p.Arg504His)SNV Likely pathogenic 587456 rs185753709 1:155261654-155261654 1:155291863-155291863
15 PKLR NM_000298.6(PKLR):c.1067T>G (p.Met356Arg)SNV Likely pathogenic 626259 rs752423472 1:155264075-155264075 1:155294284-155294284
16 PKLR NM_000298.6(PKLR):c.391_393del (p.Ile131del)deletion Likely pathogenic 292815 rs886045351 1:155265342-155265344 1:155295551-155295553
17 PKLR NM_000298.6(PKLR):c.181C>T (p.Leu61=)SNV Conflicting interpretations of pathogenicity 292818 rs8177962 1:155269991-155269991 1:155300200-155300200
18 PKLR NM_000298.6(PKLR):c.1686C>T (p.Ser562=)SNV Conflicting interpretations of pathogenicity 292805 rs140859641 1:155260402-155260402 1:155290611-155290611
19 PKLR NM_000298.6(PKLR):c.1456C>T (p.Arg486Trp)SNV Conflicting interpretations of pathogenicity 1513 rs116100695 1:155261709-155261709 1:155291918-155291918
20 PKLR NM_000298.6(PKLR):c.1516G>A (p.Val506Ile)SNV Conflicting interpretations of pathogenicity 235407 rs8177988 1:155261649-155261649 1:155291858-155291858
21 PKLR NM_000298.6(PKLR):c.*13T>GSNV Uncertain significance 292804 rs1052177 1:155260350-155260350 1:155290559-155290559
22 PKLR NM_000298.6(PKLR):c.1468C>T (p.Arg490Trp)SNV Uncertain significance 292806 rs200133000 1:155261697-155261697 1:155291906-155291906
23 PKLR NM_000298.6(PKLR):c.1365C>T (p.Thr455=)SNV Uncertain significance 292807 rs146708702 1:155263039-155263039 1:155293248-155293248
24 PKLR NM_000298.6(PKLR):c.*1067T>CSNV Uncertain significance 292790 rs559809916 1:155259296-155259296 1:155289505-155289505
25 PKLR NM_000298.6(PKLR):c.*779C>ASNV Uncertain significance 292795 rs886045348 1:155259584-155259584 1:155289793-155289793
26 PKLR NM_000298.6(PKLR):c.*582G>ASNV Uncertain significance 292796 rs758139094 1:155259781-155259781 1:155289990-155289990
27 PKLR NM_000298.6(PKLR):c.*346_*348deldeletion Uncertain significance 292799 rs556763356 1:155260015-155260017 1:155290224-155290226
28 PKLR NM_000298.6(PKLR):c.*275C>TSNV Uncertain significance 292801 rs886045350 1:155260088-155260088 1:155290297-155290297
29 PKLR NM_000298.6(PKLR):c.918C>A (p.His306Gln)SNV Uncertain significance 292810 rs141571402 1:155264320-155264320 1:155294529-155294529
30 PKLR NM_000298.6(PKLR):c.284-9T>CSNV Uncertain significance 292816 rs886045352 1:155265556-155265556 1:155295765-155295765
31 PKLR NM_000298.6(PKLR):c.*1041C>TSNV Uncertain significance 292791 rs528740550 1:155259322-155259322 1:155289531-155289531
32 PKLR NM_000298.6(PKLR):c.121C>T (p.Arg41Trp)SNV Uncertain significance 292819 rs375189218 1:155270051-155270051 1:155300260-155300260
33 PKLR NM_000298.6(PKLR):c.*893T>GSNV Uncertain significance 292793 rs41264939 1:155259470-155259470 1:155289679-155289679
34 PKLR NM_000298.6(PKLR):c.*866T>CSNV Uncertain significance 292794 rs886045347 1:155259497-155259497 1:155289706-155289706
35 PKLR NM_000298.6(PKLR):c.*342C>TSNV Uncertain significance 292800 rs879040355 1:155260021-155260021 1:155290230-155290230
36 PKLR NM_000298.6(PKLR):c.1250C>T (p.Ala417Val)SNV Uncertain significance 292808 rs756549612 1:155263248-155263248 1:155293457-155293457
37 PKLR NM_000298.6(PKLR):c.188C>G (p.Ala63Gly)SNV Uncertain significance 292817 rs886045353 1:155269984-155269984 1:155300193-155300193
38 PKLR NM_000298.6(PKLR):c.111G>T (p.Gly37=)SNV Uncertain significance 292820 rs141341788 1:155270061-155270061 1:155300270-155300270
39 PKLR NM_000298.6(PKLR):c.-26C>TSNV Uncertain significance 292822 rs200181342 1:155271212-155271212 1:155301421-155301421
40 PKLR NM_000298.6(PKLR):c.*499G>ASNV Uncertain significance 292797 rs777573500 1:155259864-155259864 1:155290073-155290073
41 PKLR NM_000298.6(PKLR):c.*351T>ASNV Uncertain significance 292798 rs886045349 1:155260012-155260012 1:155290221-155290221
42 PKLR NM_000298.6(PKLR):c.1081A>G (p.Asn361Asp)SNV Uncertain significance 631566 rs765903674 1:155264061-155264061 1:155294270-155294270
43 PKLR NM_000298.6(PKLR):c.943G>A (p.Glu315Lys)SNV Uncertain significance 631567 rs1557959063 1:155264295-155264295 1:155294504-155294504
44 PKLR NM_000298.6(PKLR):c.507G>A (p.Gly169=)SNV Uncertain significance 631568 rs201674983 1:155265228-155265228 1:155295437-155295437
45 PKLR NM_000298.6(PKLR):c.1269+43T>CSNV Uncertain significance 801556 1:155263186-155263186 1:155293395-155293395
46 PKLR NM_000298.6(PKLR):c.1379T>C (p.Val460Ala)SNV Uncertain significance 225440 rs149946271 1:155263025-155263025 1:155293234-155293234
47 PKLR NM_000298.6(PKLR):c.*14C>TSNV Uncertain significance 292803 rs8177994 1:155260349-155260349 1:155290558-155290558
48 PKLR NM_000298.6(PKLR):c.965+12G>ASNV Uncertain significance 292809 rs200039500 1:155264261-155264261 1:155294470-155294470
49 PKLR NM_000298.6(PKLR):c.909G>C (p.Pro303=)SNV Uncertain significance 292811 rs200840994 1:155264329-155264329 1:155294538-155294538
50 PKLR NM_000298.6(PKLR):c.790C>T (p.Leu264=)SNV Uncertain significance 292812 rs199959447 1:155264448-155264448 1:155294657-155294657

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

73 (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 rs747097960
16 PKLR p.Gly341Ala VAR_004045 rs122742739
17 PKLR p.Ile357Thr VAR_004047 rs779152555
18 PKLR p.Arg359Cys VAR_004048 rs138871700
19 PKLR p.Arg359His VAR_004049 rs137607058
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 rs140332359
24 PKLR p.Asn393Lys VAR_004054 rs116849034
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

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:

36
# 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:

(show all 11)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.53 PKM PKLR PFKM G6PD
2
Show member pathways
12.45 PRCP KNG1 KLKB1 KLK4 F11
3
Show member pathways
11.88 PKM PKLR PFKM G6PD
4
Show member pathways
11.62 PKM PKLR PFKM
5
Show member pathways
11.48 PRCP KNG1 BDKRB2
6
Show member pathways
11.46 PRCP KNG1 KLKB1 F11
7 11.38 PKM PFKM G6PD
8
Show member pathways
11.12 PKM PKLR
9 11.09 KNG1 KLKB1 F11 BDKRB2
10 11.01 KLKB1 KLK4 F11
11 10.57 PKM PKLR

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 extracellular exosome GO:0070062 9.17 PRCP PKM PKLR KNG1 KLKB1 G6PD

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 blood coagulation GO:0007596 9.67 KNG1 KLKB1 F11
2 metabolic process GO:0008152 9.65 PKM PKLR PFKM
3 hemostasis GO:0007599 9.5 KNG1 KLKB1 F11
4 ATP biosynthetic process GO:0006754 9.46 PKM PKLR
5 vasodilation GO:0042311 9.43 KNG1 BDKRB2
6 plasminogen activation GO:0031639 9.4 KLKB1 F11
7 pyruvate biosynthetic process GO:0042866 9.37 PKM PKLR
8 glycolytic process GO:0006096 9.33 PKM PKLR PFKM
9 positive regulation of fibrinolysis GO:0051919 9.26 KLKB1 F11
10 canonical glycolysis GO:0061621 9.13 PKM PKLR PFKM
11 blood coagulation, intrinsic pathway GO:0007597 8.92 PRCP KNG1 KLKB1 F11

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

# Name GO ID Score Top Affiliating Genes
1 peptidase activity GO:0008233 9.62 PRCP KLKB1 KLK4 F11
2 serine-type endopeptidase activity GO:0004252 9.43 KLKB1 KLK4 F11
3 serine-type peptidase activity GO:0008236 9.26 PRCP KLKB1 KLK4 F11
4 potassium ion binding GO:0030955 9.16 PKM PKLR
5 pyruvate kinase activity GO:0004743 8.62 PKM PKLR

Sources for Pyruvate Kinase Deficiency of Red Cells

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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