PKRD
MCID: PYR041
MIFTS: 56

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 57 12 20 72 29 6 15
Pyruvate Kinase Deficiency 57 73 20 43 36 13 54
Pk Deficiency 57 12 20 43 72
Hemolytic Anemia Due to Red Cell Pyruvate Kinase Deficiency 12 58 72
Pyruvate Kinase Deficiency of Erythrocyte 57 12 72
Pyruvate Kinase Deficiency of Erythrocytes 20 58
Hereditary Non-Spherocytic Hemolytic Anemia Due to Pyruvate Kinase Deficiency 72
Anemia, Hemolytic, Congenital Nonspherocytic 70
Pyruvate Kinase-Deficient Hemolytic Anemia 72
Pyruvate Kinase Deficiency, Red Cells 39
Red Cell Pyruvate Kinase Deficiency 72
Deficiency of Pyruvate Kinase 70
Hnsha 72
Pkrd 72
Pkd 43

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®:

57 (Updated 05-Apr-2021)
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® 57 266200
KEGG 36 H01096
MeSH 44 D000746
ICD10 via Orphanet 33 D55.2
UMLS via Orphanet 71 C0340968
Orphanet 58 ORPHA766
UMLS 70 C0002882 C0340968

Summaries for Pyruvate Kinase Deficiency of Red Cells

MedlinePlus Genetics : 43 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 bilirubin metabolic disorder and congenital hemolytic anemia, 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 drug pyruvate has been mentioned in the context of this disorder. Affiliated tissues include spleen, cortex and small intestine, and related phenotypes are splenomegaly and reticulocytosis

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.

GARD : 20 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® : 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) (Updated 05-Apr-2021)

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 : 72 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 : 73 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 212)
# Related Disease Score Top Affiliating Genes
1 bilirubin metabolic disorder 30.5 PKM G6PD F3
2 congenital hemolytic anemia 30.5 PKLR HBE1 G6PD CDIN1
3 neonatal jaundice 30.4 PKLR G6PD
4 kernicterus 30.4 PKM G6PD
5 glucosephosphate dehydrogenase deficiency 30.4 PKLR HBE1 G6PD
6 hereditary spherocytosis 30.3 PKLR HBE1 G6PD
7 splenic infarction 29.9 HBE1 F3
8 angina pectoris 29.8 KNG1 F3
9 hemolytic anemia 29.6 PKM PKLR PFKM G6PD F3
10 factor xii deficiency 29.0 KNG1 KLKB1 KLK4 F3 F11
11 hypertension, essential 28.8 PRCP KNG1 KLKB1 KLK4 F3
12 congenital nonspherocytic hemolytic anemia 27.5 VNN2 PRCP PKM PKLR PFKM KNG1
13 polycystic kidney disease 11.4
14 cystic kidney disease 11.3
15 pyruvate kinase deficiency, liver type 11.3
16 episodic kinesigenic dyskinesia 1 11.3
17 polycystic kidney disease 4 with or without polycystic liver disease 11.2
18 polycystic kidney disease 2 with or without polycystic liver disease 11.2
19 convulsions, familial infantile, with paroxysmal choreoathetosis 11.2
20 dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema 11.2
21 hemolytic anemia, nonspherocytic, due to hexokinase deficiency 11.2
22 polycystic kidney disease 3 with or without polycystic liver disease 11.1
23 polycystic kidney disease, infantile severe, with tuberous sclerosis 11.0
24 polycystic liver disease 11.0
25 polycystic kidney disease 1 with or without polycystic liver disease 11.0
26 congenital hepatic fibrosis 10.9
27 paroxysmal exertion-induced dyskinesia 10.9
28 paroxysmal dyskinesia 10.9
29 hemosiderosis 10.7
30 rare hereditary hemochromatosis 10.7
31 autosomal dominant polycystic kidney disease 10.6
32 kidney disease 10.6
33 thalassemia 10.4
34 splenomegaly 10.4
35 hemochromatosis, type 1 10.3
36 gallbladder disease 1 10.3
37 pulmonary hypertension 10.3
38 malaria 10.3
39 blood group incompatibility 10.2 PKM G6PD
40 beta-thalassemia 10.2
41 autosomal recessive disease 10.2
42 cholestasis 10.2
43 hemoglobinopathy 10.2
44 liver disease 10.2
45 parotitis 10.2 KLK4 G6PD
46 hydrops fetalis, nonimmune 10.2
47 lymphatic malformation 7 10.2
48 iron metabolism disease 10.2
49 pigmentation disease 10.1 PKM G6PD
50 anemia, congenital dyserythropoietic, type ib 10.1 G6PD CDIN1

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 24)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 splenomegaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001744
2 reticulocytosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0001923
3 unconjugated hyperbilirubinemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0008282
4 chronic hemolytic anemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0004870
5 reduced red cell pyruvate kinase level 31 hallmark (90%) 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 iron 58 31 frequent (33%) Frequent (79-30%) HP:0003452
9 congenital hemolytic anemia 58 31 frequent (33%) Frequent (79-30%) HP:0004804
10 increased circulating ferritin concentration 31 frequent (33%) HP:0003281
11 elevated transferrin saturation 58 31 occasional (7.5%) Occasional (29-5%) HP:0012463
12 anisocytosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0011273
13 poikilocytosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0004447
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 increased serum ferritin 58 Frequent (79-30%)
21 abnormal erythrocyte morphology 58 Occasional (29-5%)
22 reduced red cell pyruvate kinase activity 58 Very frequent (99-80%)
23 abnormality of the amniotic fluid 31 HP:0001560
24 increased red cell osmotic fragility 31 HP:0005502

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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:
hydrops fetalis, non-immune (rare)

Clinical features from OMIM®:

266200 (Updated 05-Apr-2021)

UMLS symptoms related to Pyruvate Kinase Deficiency of Red Cells:


icterus

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

Interventional clinical trials:


# 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 Completed NCT03559699 Phase 3 AG-348
2 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 Completed NCT03548220 Phase 3 AG-348;Placebo
3 An Open-Label, Multicenter, Extension Study of AG-348 in Adult Subjects With Pyruvate Kinase Deficiency Previously Enrolled in AG-348 Studies Active, not recruiting NCT03853798 Phase 3 AG-348
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 Pyruvate Kinase Deficiency (PKD) Natural History Study Completed NCT02053480
7 Pyruvate Kinase Deficiency Global Longitudinal Registry Recruiting NCT03481738
8 Pyruvate Kinase Deficiency Epidemiological Study. An International, Multicentre, Epidemiological Observational Study Active, not recruiting NCT03866590

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, Cortex, Small Intestine, Liver, Bone Marrow, Bone, Neutrophil

Publications for Pyruvate Kinase Deficiency of Red Cells

Articles related to Pyruvate Kinase Deficiency of Red Cells:

(show top 50) (show all 535)
# Title Authors PMID Year
1
Pyruvate kinase deficiency in France: a 3-year study reveals 27 new mutations. 6 57 61
16704447 2006
2
Prenatal diagnosis of pyruvate kinase deficiency. 6 57 61
7919353 1994
3
Molecular study of pyruvate kinase deficient patients with hereditary nonspherocytic hemolytic anemia. 57 6
7706479 1995
4
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. 57 6
1896471 1991
5
Hereditary disorders in Saguenay-Lac-St-Jean (Quebec, Canada). 6 57
1937486 1991
6
PYRUVATE KINASE DEFICIENT HEMOLYTIC ANEMIA IN AN AMISH ISOLATE. 57 6
14255553 1965
7
Hereditary non-spherocytic hemolytic anemia of the pyruvate-kinase deficient type. 57 6
14014643 1963
8
Pyruvate kinase deficient hemolytic anemia in the Northern Irish population. 54 6 61
17574881 2007
9
A new PKLR gene mutation in the R-type promoter region affects the gene transcription causing pyruvate kinase deficiency. 54 61 6
11054094 2000
10
Molecular characterization of the PK-LR gene in pyruvate kinase deficient Spanish patients. Red Cell Pathology Group of the Spanish Society of Haematology (AEHH). 6 54 61
9827908 1998
11
Molecular basis of pyruvate kinase deficiency among Tunisians: description of new mutations affecting coding and noncoding regions in the PKLR gene. 6 61
28133914 2017
12
Red cell pyruvate kinase deficiency in Spain: A study of 15 cases. 6 61
27871768 2017
13
Erythrocyte pyruvate kinase deficiency in an old-order Amish cohort: longitudinal risk and disease management. 6 61
21815188 2011
14
Pyruvate kinase deficiency and malaria. 6 61
18420493 2008
15
Red cell pyruvate kinase deficiency: molecular and clinical aspects. 57 61
15982340 2005
16
Red cell pyruvate kinase deficiency: 17 new mutations of the PK-LR gene. 61 57
15953013 2005
17
PK Aarau: first homozygous nonsense mutation causing pyruvate kinase deficiency. 6 61
15491302 2004
18
Disruption of a novel regulatory element in the erythroid-specific promoter of the human PKLR gene causes severe pyruvate kinase deficiency. 6 61
12393511 2003
19
Human erythrocyte pyruvate kinase: characterization of the recombinant enzyme and a mutant form (R510Q) causing nonspherocytic hemolytic anemia. 6 61
11698298 2001
20
Molecular characterization of the PK-LR gene in sixteen pyruvate kinase-deficient patients. 61 6
11328279 2001
21
Prevalence of pyruvate kinase deficiency in northern European population in the north of England. Northern Region Haematologists Group. 61 57
11186276 2000
22
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
23
Mutations in the R-type pyruvate kinase gene and altered enzyme kinetic properties in patients with hemolytic anemia due to pyruvate kinase deficiency. 6 61
7948315 1994
24
Molecular abnormality of erythrocyte pyruvate kinase deficiency in the Amish. 61 6
8161798 1994
25
Fetal anaemia due to pyruvate kinase deficiency. 61 57
8285758 1993
26
Analysis of pyruvate kinase-deficiency mutations that produce nonspherocytic hemolytic anemia. 6 61
8483951 1993
27
Hereditary nonspherocytic hemolytic anemia due to pyruvate kinase deficiency: a prevalence study in Quebec (Canada). 57 61
1511997 1992
28
Point mutations in the L-type pyruvate kinase gene of two children with hemolytic anemia caused by pyruvate kinase deficiency. 6 61
2018831 1991
29
Elevated pyruvate kinase activity in patients with hemolytic anemia due to red cell pyruvate kinase "deficiency". 61 57
3674096 1987
30
Erythrocytic pyruvate kinase deficiency and hemolytic anemia inherited as a dominant trait. 61 57
6475936 1984
31
Erythrocyte pyruvate kinase deficiency in the Ohio Amish: origin and characterization of the mutant enzyme. 57 61
6731438 1984
32
Biochemical characterization of three mutant isozymes of erythrocyte pyruvate kinase: PK-"Gainesville," PK-"San Juan," and PK-"Cape Canaveral". 61 57
6859032 1983
33
Erythrocyte pyruvate kinase deficiency. A kinetic study of the membrane-localised and cytoplasmatic enzyme from six patients. 61 57
6851994 1983
34
Pyruvate kinase deficiency: characterization of two new genetic variants. 57 61
7151276 1982
35
Quinine protects pyruvate-kinase deficient red cells from dehydration. 57 61
547736 1979
36
Hereditary pyruvate kinase deficiency: role of the abnormal enzyme in red cell pathophysiology. 61 57
728372 1978
37
A monomeric form of pyruvate kinase in human pyruvate kinase deficiency. 57 61
15247 1977
38
Inherited erythrocyte pyruvate kinase deficiency: Studies on 15 members of two related families. 61 57
190844 1977
39
Red cell pyruvate kinase deficiency: adverse effect of oral contraceptives. 61 57
402766 1977
40
Salicylate-induced injury of pyruvate-kinase-deficient erythrocytes. 61 57
1256482 1976
41
Congenital hemolytic anemia in the Basenji dog due to erythrocyte pyruvate kinase deficiency. 61 57
4251418 1971
42
The polymorphism of nucleosid effect in pyruvate kinase deficiency. 57 61
5451691 1970
43
A low Km phosphoenolpyruvate mutant in the Amish with red cell pyruvate kinase deficiency. 61 57
5806438 1969
44
Erythrocyte pyruvate kinase deficiency in non-spherocytic hemolytic anemia: a system of multiple genetic markers? 57 61
5658389 1968
45
Pyruvate kinase deficiency and related disorders of red cell glycolysis. 57 61
5332174 1966
46
Red cell pyruvate kinase deficiency. The effect of splenectomy. 57 61
5940199 1966
47
Exome Genotyping Identifies Pleiotropic Variants Associated with Red Blood Cell Traits. 6
27346685 2016
48
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. 6
26728349 2016
49
Modulation of Malaria Phenotypes by Pyruvate Kinase (PKLR) Variants in a Thai Population. 6
26658699 2015
50
Spectrum of novel mutations in the human PKLR gene in pyruvate kinase-deficient Indian patients with heterogeneous clinical phenotypes. 6
18759866 2009

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 92)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PKLR NM_000298.6(PKLR):c.389C>A (p.Ser130Tyr) SNV Pathogenic 1514 rs118204089 GRCh37: 1:155265346-155265346
GRCh38: 1:155295555-155295555
2 PKLR PKLR, -83G-C SNV Pathogenic 1515 GRCh37:
GRCh38:
3 PKLR NM_000298.6(PKLR):c.1318G>T (p.Glu440Ter) SNV Pathogenic 1516 rs771145576 GRCh37: 1:155263086-155263086
GRCh38: 1:155293295-155293295
4 PKLR NM_000298.6(PKLR):c.1269G>A (p.Ala423=) SNV Pathogenic 1517 rs774652817 GRCh37: 1:155263229-155263229
GRCh38: 1:155293438-155293438
5 PKLR PKLR, 1-BP DEL, 823G Deletion Pathogenic 1518 GRCh37:
GRCh38:
6 PKLR PKLR, 1-BP DEL Deletion Pathogenic 1505 GRCh37:
GRCh38:
7 PKLR NM_000298.6(PKLR):c.487C>T (p.Arg163Cys) SNV Pathogenic 1506 rs118204083 GRCh37: 1:155265248-155265248
GRCh38: 1:155295457-155295457
8 PKLR NM_000298.6(PKLR):c.1151C>T (p.Thr384Met) SNV Pathogenic 1507 rs74315362 GRCh37: 1:155263347-155263347
GRCh38: 1:155293556-155293556
9 PKLR NM_000298.6(PKLR):c.1261C>A (p.Gln421Lys) SNV Pathogenic 1509 rs118204084 GRCh37: 1:155263237-155263237
GRCh38: 1:155293446-155293446
10 PKLR NM_000298.6(PKLR):c.1436G>A (p.Arg479His) SNV Pathogenic 1510 rs118204085 GRCh37: 1:155262968-155262968
GRCh38: 1:155293177-155293177
11 PKLR NM_000298.6(PKLR):c.1456C>T (p.Arg486Trp) SNV Pathogenic 1513 rs116100695 GRCh37: 1:155261709-155261709
GRCh38: 1:155291918-155291918
12 PKLR NM_000298.6(PKLR):c.331G>A (p.Gly111Arg) SNV Pathogenic 522658 rs918627824 GRCh37: 1:155265500-155265500
GRCh38: 1:155295709-155295709
13 PKLR NM_000298.6(PKLR):c.1529G>A (p.Arg510Gln) SNV Pathogenic 1511 rs113403872 GRCh37: 1:155261636-155261636
GRCh38: 1:155291845-155291845
14 PKLR NM_000298.6(PKLR):c.721G>T (p.Glu241Ter) SNV Pathogenic 280113 rs201953584 GRCh37: 1:155264517-155264517
GRCh38: 1:155294726-155294726
15 PKLR NM_000298.6(PKLR):c.721G>T (p.Glu241Ter) SNV Pathogenic 280113 rs201953584 GRCh37: 1:155264517-155264517
GRCh38: 1:155294726-155294726
16 PKLR NM_000298.6(PKLR):c.1594C>T (p.Arg532Trp) SNV Pathogenic 983093 GRCh37: 1:155261571-155261571
GRCh38: 1:155291780-155291780
17 PKLR NM_000298.6(PKLR):c.1082A>C (p.Asn361Thr) SNV Likely pathogenic 816680 rs1358047518 GRCh37: 1:155264060-155264060
GRCh38: 1:155294269-155294269
18 PKLR NM_000298.6(PKLR):c.1511G>A (p.Arg504His) SNV Likely pathogenic 587456 rs185753709 GRCh37: 1:155261654-155261654
GRCh38: 1:155291863-155291863
19 PKLR NM_000298.6(PKLR):c.1067T>G (p.Met356Arg) SNV Likely pathogenic 626259 rs752423472 GRCh37: 1:155264075-155264075
GRCh38: 1:155294284-155294284
20 PKLR NM_000298.6(PKLR):c.1456C>T (p.Arg486Trp) SNV Likely pathogenic 1513 rs116100695 GRCh37: 1:155261709-155261709
GRCh38: 1:155291918-155291918
21 PKLR NM_000298.6(PKLR):c.391_393del (p.Ile131del) Deletion Likely pathogenic 292815 rs886045351 GRCh37: 1:155265342-155265344
GRCh38: 1:155295551-155295553
22 PKLR NM_000298.6(PKLR):c.*582G>A SNV Uncertain significance 292796 rs758139094 GRCh37: 1:155259781-155259781
GRCh38: 1:155289990-155289990
23 PKLR NM_000298.6(PKLR):c.*346_*348del Deletion Uncertain significance 292799 rs556763356 GRCh37: 1:155260015-155260017
GRCh38: 1:155290224-155290226
24 HCN3 , PKLR NM_000298.6(PKLR):c.*1067T>C SNV Uncertain significance 292790 rs559809916 GRCh37: 1:155259296-155259296
GRCh38: 1:155289505-155289505
25 PKLR NM_000298.6(PKLR):c.1365C>T (p.Thr455=) SNV Uncertain significance 292807 rs146708702 GRCh37: 1:155263039-155263039
GRCh38: 1:155293248-155293248
26 HCN3 , PKLR NM_000298.6(PKLR):c.*893T>G SNV Uncertain significance 292793 rs41264939 GRCh37: 1:155259470-155259470
GRCh38: 1:155289679-155289679
27 PKLR NM_000298.6(PKLR):c.918C>A (p.His306Gln) SNV Uncertain significance 292810 rs141571402 GRCh37: 1:155264320-155264320
GRCh38: 1:155294529-155294529
28 HCN3 , PKLR NM_000298.6(PKLR):c.*779C>A SNV Uncertain significance 292795 rs886045348 GRCh37: 1:155259584-155259584
GRCh38: 1:155289793-155289793
29 PKLR NM_000298.6(PKLR):c.790C>T (p.Leu264=) SNV Uncertain significance 292812 rs199959447 GRCh37: 1:155264448-155264448
GRCh38: 1:155294657-155294657
30 PKLR NM_000298.6(PKLR):c.*351T>A SNV Uncertain significance 292798 rs886045349 GRCh37: 1:155260012-155260012
GRCh38: 1:155290221-155290221
31 PKLR NM_000298.6(PKLR):c.965+12G>A SNV Uncertain significance 292809 rs200039500 GRCh37: 1:155264261-155264261
GRCh38: 1:155294470-155294470
32 PKLR NM_000298.6(PKLR):c.*275C>T SNV Uncertain significance 292801 rs886045350 GRCh37: 1:155260088-155260088
GRCh38: 1:155290297-155290297
33 PKLR NM_000298.6(PKLR):c.188C>G (p.Ala63Gly) SNV Uncertain significance 292817 rs886045353 GRCh37: 1:155269984-155269984
GRCh38: 1:155300193-155300193
34 PKLR NM_000298.6(PKLR):c.*13T>G SNV Uncertain significance 292804 rs1052177 GRCh37: 1:155260350-155260350
GRCh38: 1:155290559-155290559
35 PKLR NM_000298.6(PKLR):c.111G>T (p.Gly37=) SNV Uncertain significance 292820 rs141341788 GRCh37: 1:155270061-155270061
GRCh38: 1:155300270-155300270
36 PKLR NM_000298.6(PKLR):c.-26C>T SNV Uncertain significance 292822 rs200181342 GRCh37: 1:155271212-155271212
GRCh38: 1:155301421-155301421
37 PKLR NM_000298.6(PKLR):c.1468C>T (p.Arg490Trp) SNV Uncertain significance 292806 rs200133000 GRCh37: 1:155261697-155261697
GRCh38: 1:155291906-155291906
38 PKLR NM_000298.6(PKLR):c.639G>T (p.Val213=) SNV Uncertain significance 292814 rs750102822 GRCh37: 1:155264962-155264962
GRCh38: 1:155295171-155295171
39 HCN3 , PKLR NM_000298.6(PKLR):c.*1041C>T SNV Uncertain significance 292791 rs528740550 GRCh37: 1:155259322-155259322
GRCh38: 1:155289531-155289531
40 PKLR NM_000298.6(PKLR):c.1250C>T (p.Ala417Val) SNV Uncertain significance 292808 rs756549612 GRCh37: 1:155263248-155263248
GRCh38: 1:155293457-155293457
41 HCN3 , PKLR NM_000298.6(PKLR):c.*866T>C SNV Uncertain significance 292794 rs886045347 GRCh37: 1:155259497-155259497
GRCh38: 1:155289706-155289706
42 PKLR NM_000298.6(PKLR):c.909G>C (p.Pro303=) SNV Uncertain significance 292811 rs200840994 GRCh37: 1:155264329-155264329
GRCh38: 1:155294538-155294538
43 PKLR NM_000298.6(PKLR):c.*14C>T SNV Uncertain significance 292803 rs8177994 GRCh37: 1:155260349-155260349
GRCh38: 1:155290558-155290558
44 PKLR NM_000298.6(PKLR):c.121C>T (p.Arg41Trp) SNV Uncertain significance 292819 rs375189218 GRCh37: 1:155270051-155270051
GRCh38: 1:155300260-155300260
45 PKLR NM_000298.6(PKLR):c.284-9T>C SNV Uncertain significance 292816 rs886045352 GRCh37: 1:155265556-155265556
GRCh38: 1:155295765-155295765
46 PKLR NM_000298.6(PKLR):c.*342C>T SNV Uncertain significance 292800 rs879040355 GRCh37: 1:155260021-155260021
GRCh38: 1:155290230-155290230
47 PKLR NM_000298.6(PKLR):c.*499G>A SNV Uncertain significance 292797 rs777573500 GRCh37: 1:155259864-155259864
GRCh38: 1:155290073-155290073
48 PKLR NM_000298.6(PKLR):c.1081A>G (p.Asn361Asp) SNV Uncertain significance 631566 rs765903674 GRCh37: 1:155264061-155264061
GRCh38: 1:155294270-155294270
49 PKLR NM_000298.6(PKLR):c.943G>A (p.Glu315Lys) SNV Uncertain significance 631567 rs1557959063 GRCh37: 1:155264295-155264295
GRCh38: 1:155294504-155294504
50 HCN3 , PKLR NM_000298.6(PKLR):c.*1277G>A SNV Uncertain significance 873569 GRCh37: 1:155259086-155259086
GRCh38: 1:155289295-155289295

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

72 (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:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.96 PRCP KNG1 KLKB1 HBE1 F3 F11
2
Show member pathways
12.53 PKM PKLR PFKM G6PD
3
Show member pathways
12.17 PRCP KNG1 KLKB1 KLK4 F3 F11
4
Show member pathways
11.95 PKM PKLR PFKM G6PD
5
Show member pathways
11.62 PKM PKLR PFKM
6 11.62 KNG1 KLKB1 F3 F11
7 11.39 PKM PFKM G6PD
8
Show member pathways
11.22 PRCP KNG1 KLKB1 F3 F11
9 11.11 KLKB1 KLK4 F11
10 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 region GO:0005576 9.5 VNN2 PKM KNG1 KLKB1 KLK4 F3
2 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:

# Name GO ID Score Top Affiliating Genes
1 metabolic process GO:0008152 9.63 PKM PKLR PFKM
2 blood coagulation GO:0007596 9.55 KNG1 KLKB1 HBE1 F3 F11
3 glycolytic process GO:0006096 9.5 PKM PKLR PFKM
4 ATP biosynthetic process GO:0006754 9.48 PKM PKLR
5 plasminogen activation GO:0031639 9.43 KLKB1 F11
6 canonical glycolysis GO:0061621 9.43 PKM PKLR PFKM
7 pyruvate biosynthetic process GO:0042866 9.4 PKM PKLR
8 positive regulation of fibrinolysis GO:0051919 9.37 KLKB1 F11
9 hemostasis GO:0007599 9.26 KNG1 KLKB1 F3 F11
10 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 protein binding GO:0005515 10.17 VNN2 PRCP PKM PKLR PFKM KNG1
2 peptidase activity GO:0008233 9.67 PRCP KLKB1 KLK4 F11
3 serine-type endopeptidase activity GO:0004252 9.46 KLKB1 KLK4 F3 F11
4 potassium ion binding GO:0030955 9.26 PKM PKLR
5 serine-type peptidase activity GO:0008236 9.26 PRCP KLKB1 KLK4 F11
6 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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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