PKD
MCID: PYR013
MIFTS: 56

Pyruvate Kinase Deficiency (PKD) malady

Metabolic diseases, Blood diseases categories

Summaries for Pyruvate Kinase Deficiency

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42NIH Rare Diseases, 21Genetics Home Reference, 63Wikipedia, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 Pyruvate kinase deficiency is a hereditary 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). signs and symptoms include jaundice, enlargement of the spleen, and mild or severe hemolysis (red cell breakdown), leading to anemia. problems may first appear in the newborn as 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. pyruvate kinase deficiency is caused by a mutation in the pklr gene and is inherited in an autosomal recessive fashion.  last updated: 7/18/2011

MalaCards: Pyruvate Kinase Deficiency, also known as pyruvate kinase deficiency of erythrocytes, is related to deficiency anemia and hemolytic anemia. An important gene associated with Pyruvate Kinase Deficiency is PKLR (pyruvate kinase, liver and RBC), and among its related pathways are Abacavir Pathway, Pharmacokinetics/Pharmacodynamics and Glucose / Energy Metabolism. The compounds estrogen and butyrate have been mentioned in the context of this disorder. Affiliated tissues include spleen, and related mouse phenotypes are growth/size and normal.

Genetics Home Reference:21 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.

Wikipedia:63 Pyruvate kinase deficiency, also called erythrocyte pyruvate kinase deficiency, is an inherited... more...

Description from OMIM:46 266200

Aliases & Classifications for Pyruvate Kinase Deficiency

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60UMLS, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 44Novoseek, 48Orphanet, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Metabolic diseases
Anatomical: Blood diseases


Characteristics (Orphanet epidemiological data):

48
pyruvate kinase deficiency of erythrocytes:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000; Age of onset: Neonatal/infancy; Age of death: Any age


Aliases & Descriptions:

pyruvate kinase deficiency 42 20 22 21 46 44
pyruvate kinase deficiency of erythrocytes 42 48
pyruvate kinase deficiency of red cells 42 60
pk deficiency 42 21
hemolytic anemia due to red cell pyruvate kinase deficiency 48
paroxysmal kinesigenic choreoathetosis 60
deficiency of pyruvate kinase 60
pkd 21


External Ids:

OMIM46 266200
ICD10 via Orphanet26 D55.2

Related Diseases for Pyruvate Kinase Deficiency

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17GeneCards, 18GeneDecks
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Diseases related to Pyruvate Kinase Deficiency via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 146)
idRelated DiseaseScoreTop Affiliating Genes
1deficiency anemia31.4G6PD, TF, PKLR, HFE, EPO, HBA2
2hemolytic anemia31.3G6PD, TF, PKLR, HFE, EPO, HBA2
3malaria30.8HBA2, G6PD
4congenital hemolytic anemia30.7PKLR, TF, G6PD
5leukemia30.6MTHFR, HFE, NTRK1, ANXA5, EPO, HBA2
6hemochromatosis30.5HFE, TF
7polycystic kidney disease30.4HBA2, EPO
8hereditary spherocytosis30.4G6PD, HFE
9iron deficiency anemia30.4G6PD, TF, HFE, EPO
10acute leukemia30.4MTHFR, HFE, EPO, HBA2
11sickle cell disease30.4G6PD, TF, ANXA5, EPO, HBA2
12anhidrosis30.2NTRK1
13congenital nonspherocytic hemolytic anemia30.2G6PD, PKLR
14hypertension30.2MTHFR
15alpha thalassemia30.2G6PD, HFE, HBA2
16pancreatic cancer29.9PKM, NTRK1, ANXA5, GDF15
17familial paroxysmal kinesigenic dyskinesia10.6
18hypoparathyroidism10.5
19infantile convulsions and paroxysmal choreoathetosis, familial10.5
20dystonia 1010.5
21episodic kinesigenic dyskinesia 110.5
22kidney disease10.4
23cystic kidney10.4
24neonatal jaundice10.4
25myelitis10.3
26arachnoiditis10.3
27becker muscular dystrophy10.3
28muscular dystrophy10.3
29reflex epilepsy10.3
30familial paroxysmal nonkinesigenic dyskinesia10.3
31polycystic kidney disease, autosomal recessive10.3
32polycystic kidney disease, type 110.3
33polycystic kidney disease, type 210.3
34polycystic kidney disease, autosomal dominant10.3
35phenylketonuria10.3
36cholelithiasis10.3
37thalassemia10.3
38pyruvate kinase deficiency, liver type10.3
39pyruvate kinase deficiency, muscle type10.3
40acute pancreatitis10.1
41gaucher's disease10.1
42infectious mononucleosis10.1
43adenosine deaminase deficiency10.1
44glycogen storage disease10.1
45myelofibrosis10.1
46myopathy10.1
47osteosclerosis10.1
48pancreatitis10.1
49nonspherocytic hemolytic anemia due to hexokinase deficiency10.1
50polycystic liver disease10.1

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



Diseases related to pyruvate kinase deficiency

Clinical Features for Pyruvate Kinase Deficiency

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Sources:
46OMIM
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Clinical features from OMIM:

266200

Clinical synopsis from OMIM:

266200

Drugs & Therapeutics for Pyruvate Kinase Deficiency

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Pyruvate Kinase Deficiency

Drug clinical trials:

Search ClinicalTrials for Pyruvate Kinase Deficiency

Search NIH Clinical Center for Pyruvate Kinase Deficiency

Search CenterWatch for Pyruvate Kinase Deficiency

Genetic Tests for Pyruvate Kinase Deficiency

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20GeneTests, 22GTR
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Genetic tests related to Pyruvate Kinase Deficiency:

id Genetic test Affiliating Genes
1 Pyruvate Kinase Deficiency20 22 PKLR

Anatomical Context for Pyruvate Kinase Deficiency

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32MalaCards
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MalaCards organs/tissues related to Pyruvate Kinase Deficiency:

32
Spleen

Animal Models for Pyruvate Kinase Deficiency or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Pyruvate Kinase Deficiency:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053787.6TF, MTHFR, HFE, NTRK1, HBA2, GDF15
2MP:00028737.6PKLR, HFE, NTRK1, ANXA5, EPO, GDF15
3MP:00053976.9G6PD, TF, PRDX1, PKLR, HFE, NTRK1
4MP:00053766.3G6PD, TF, MTHFR, PRDX1, PKLR, HFE
5MP:00107686.1HBA2, G6PD, TF, MTHFR, PRDX1, PKLR

Publications for Pyruvate Kinase Deficiency

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Genetic Variations for Pyruvate Kinase Deficiency

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Pyruvate Kinase Deficiency:

62 (show all 100)
id Symbol AA change Variation ID SNP ID
1PKLRp.Met107ThrVAR_004028
2PKLRp.Val134AspVAR_004030
3PKLRp.Leu155ProVAR_004031
4PKLRp.Glu172GlnVAR_004032
5PKLRp.Arg163CysVAR_004033
6PKLRp.Gly275ArgVAR_004035
7PKLRp.Asp281AsnVAR_004036
8PKLRp.Phe287ValVAR_004037
9PKLRp.Ile314ThrVAR_004038
10PKLRp.Asp331GluVAR_004039
11PKLRp.Gly332SerVAR_004040
12PKLRp.Ala336SerVAR_004041
13PKLRp.Arg337ProVAR_004042
14PKLRp.Arg337GlnVAR_004043
15PKLRp.Asp339HisVAR_004044
16PKLRp.Gly341AlaVAR_004045
17PKLRp.Ile357ThrVAR_004047
18PKLRp.Arg359CysVAR_004048
19PKLRp.Arg359HisVAR_004049
20PKLRp.Asn361AspVAR_004050
21PKLRp.Val368PheVAR_004051
22PKLRp.Thr384MetVAR_004052
23PKLRp.Ala392ThrVAR_004053
24PKLRp.Asn393LysVAR_004054
25PKLRp.Asn393SerVAR_004055
26PKLRp.Thr408IleVAR_004057
27PKLRp.Gln421LysVAR_004058
28PKLRp.Arg426GlnVAR_004059
29PKLRp.Arg426TrpVAR_004060
30PKLRp.Ala431ThrVAR_004061
31PKLRp.Gly458AspVAR_004062
32PKLRp.Ala459ValVAR_004063
33PKLRp.Val460MetVAR_004064
34PKLRp.Ala468ValVAR_004065
35PKLRp.Arg486TrpVAR_004066rs116100695
36PKLRp.Arg490TrpVAR_004067rs200133000
37PKLRp.Ala495ValVAR_004068
38PKLRp.Arg498CysVAR_004069
39PKLRp.Arg498HisVAR_004070
40PKLRp.Arg510GlnVAR_004071rs113403872
41PKLRp.Arg532GlnVAR_004072
42PKLRp.Arg532TrpVAR_004073
43PKLRp.Val552MetVAR_004074
44PKLRp.Arg559GlyVAR_004075
45PKLRp.Asn566LysVAR_004076
46PKLRp.Ser80ProVAR_011436
47PKLRp.Arg86ProVAR_011437
48PKLRp.Ile90AsnVAR_011438
49PKLRp.Gly95ArgVAR_011439
50PKLRp.Gly111ArgVAR_011440
51PKLRp.Ala115ProVAR_011441
52PKLRp.Ser120PheVAR_011442
53PKLRp.Ser130TyrVAR_011443
54PKLRp.Gly159ValVAR_011444
55PKLRp.Gly222AlaVAR_011445
56PKLRp.Asp293AsnVAR_011446
57PKLRp.Gly263ArgVAR_011447
58PKLRp.Gly263TrpVAR_011448
59PKLRp.Val288LeuVAR_011449
60PKLRp.Ala295ValVAR_011450
61PKLRp.Ile310AsnVAR_011451
62PKLRp.Glu315LysVAR_011452
63PKLRp.Asp331AsnVAR_011453
64PKLRp.Gly341AspVAR_011454
65PKLRp.Ile342PheVAR_011455
66PKLRp.Lys348AsnVAR_011456
67PKLRp.Gly364AspVAR_011458
68PKLRp.Ser376IleVAR_011459
69PKLRp.Glu387GlyVAR_011460
70PKLRp.Asp390AsnVAR_011461
71PKLRp.Ala394AspVAR_011462
72PKLRp.Ala394ValVAR_011463
73PKLRp.Thr408AlaVAR_011464
74PKLRp.Glu427AlaVAR_011465
75PKLRp.Glu427AspVAR_011466
76PKLRp.Thr477AlaVAR_011467
77PKLRp.Ser485PheVAR_011468
78PKLRp.Arg488GlnVAR_011469
79PKLRp.Ala495ThrVAR_011470
80PKLRp.Arg504LeuVAR_011471rs185753709
81PKLRp.Gly511ArgVAR_011472
82PKLRp.Arg531CysVAR_011473
83PKLRp.Ile153ThrVAR_011474
84PKLRp.Ile219ThrVAR_011475
85PKLRp.Val335MetVAR_011476
86PKLRp.Ala352AspVAR_011477
87PKLRp.Arg385TrpVAR_011478
88PKLRp.Ala468GlyVAR_011479
89PKLRp.Arg479HisVAR_011480
90PKLRp.Gly557AlaVAR_011481
91PKLRp.Arg569GlnVAR_011482rs61755431
92PKLRp.Arg40TrpVAR_058467
93PKLRp.Leu73ProVAR_058469
94PKLRp.Ala154ThrVAR_058470
95PKLRp.Arg163LeuVAR_058471
96PKLRp.Gly165ValVAR_058472
97PKLRp.Leu272ValVAR_058473
98PKLRp.Val320LeuVAR_058474
99PKLRp.Gly358GluVAR_058475
100PKLRp.Leu374ProVAR_058476

Expression for genes affiliated with Pyruvate Kinase Deficiency

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Pyruvate Kinase Deficiency

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

Pathways for genes affiliated with Pyruvate Kinase Deficiency

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Sources:
49PharmGKB, 4Cell Signaling Technology, 29KEGG, 37NCBI BioSystems Database
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Pathways related to Pyruvate Kinase Deficiency according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.9PKM, PKLR
29.4PKM, PRDX1, G6PD
3
Hide members
9.0PKM, PKLR, MTHFR, G6PD
48.9MTHFR, PRDX1, HBA2
58.8EPO, PKM, TF

Compounds for genes affiliated with Pyruvate Kinase Deficiency

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Sources:
44Novoseek, 11DrugBank, 24HMDB, 49PharmGKB, 28IUPHAR, 2BitterDB, 59Tocris Bioscience
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Compounds related to Pyruvate Kinase Deficiency according to GeneCards/GeneDecks:

(show top 50)    (show all 57)
idCompoundScoreTop Affiliating Genes
1estrogen4410.6GDF15
2butyrate4410.4HBA2
3glucose4410.4PKM
4fructose-1,6-bisphosphate4410.1PKM, G6PD
5cellulose acetate449.9HBA2, PKM, G6PD
6dehydroascorbic acid44 1110.7G6PD, TF
7chi 2449.7HFE, MTHFR
8ethidium bromide449.6G6PD, TF, ANXA5
9uric acid44 2410.6HFE, MTHFR, G6PD
10recormon449.6EPO, TF
11ferric gluconate449.6EPO, TF
12deferiprone449.5TF, EPO
13iron sucrose449.5TF, EPO
14serine449.5G6PD, PRDX1, PKLR, PKM
15aluminium44 1110.5EPO, TF
16iron dextran44 1110.5TF, EPO
17nandrolone decanoate44 1110.5EPO, TF
18carbohydrates449.5ANXA5, PKLR, TF
19succinylacetone449.4EPO, TF
2023-diphosphoglycerate449.4HBA2, EPO, G6PD
21alpha tocopherol449.4MTHFR, TF, G6PD
22zinc protoporphyrin449.3G6PD, TF, EPO
23fumarate44 1110.3G6PD, EPO
24betacarotene449.2ANXA5, MTHFR, TF
25ribavirin44 49 1111.2EPO, TF, G6PD
26pyruvate449.2G6PD, PRDX1, PKLR, PKM, HFE
27cyclophosphamide44 49 1111.2MTHFR, TF, G6PD
28triamcinolone acetonide44 2810.1EPO, TF
29cytarabine44 49 1111.1NTRK1, ANXA5, EPO
30choline44 11 2411.1NTRK1, MTHFR, TF
31azathioprine44 49 2 1112.1EPO, MTHFR, G6PD
32mitomycin c449.0TF, ANXA5, EPO
33ly294002448.8NTRK1, ANXA5, EPO, GDF15
34protoporphyrin ix44 11 2410.8EPO, TF
35imatinib44 49 1110.8EPO, ANXA5, NTRK1
36atp44 289.8G6PD, PKLR, PKM, NTRK1, ANXA5, HBA2
37vitamin b12448.7G6PD, TF, MTHFR, EPO
38folate448.6EPO, MTHFR, TF, G6PD
39cisplatin44 49 59 1111.6G6PD, MTHFR, ANXA5, EPO
40iron44 249.5TF, HFE, EPO, HBA2, GDF15
41testosterone44 59 11 2411.4G6PD, MTHFR, HFE, NTRK1, EPO
42thymidine44 249.4MTHFR, ANXA5, EPO, HBA2
43cyclosporin a44 28 5910.3EPO, ANXA5, MTHFR, TF
44alanine448.3TF, MTHFR, PKM, HFE, NTRK1, HBA2
45oxygen44 249.3HBA2, EPO, ANXA5, NTRK1, PRDX1
46lactate448.2G6PD, TF, PKM, NTRK1, ANXA5, EPO
47aspartate447.9G6PD, TF, MTHFR, HFE, NTRK1, EPO
48tyrosine447.9PKLR, PKM, HFE, NTRK1, ANXA5, EPO
49ascorbic acid44 248.9EPO, ANXA5, HFE, MTHFR, TF, G6PD
50creatinine447.8G6PD, TF, MTHFR, PRDX1, NTRK1, EPO

GO Terms for genes affiliated with Pyruvate Kinase Deficiency

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16Gene Ontology
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Cellular components related to Pyruvate Kinase Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1basal part of cellGO:0451789.3HFE, TF
2early endosomeGO:0057699.2NTRK1, HFE, TF

Biological processes related to Pyruvate Kinase Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1erythrocyte maturationGO:0432499.4EPO, G6PD
2positive regulation of Ras protein signal transductionGO:0465799.3EPO, NTRK1
3response to axon injuryGO:0486789.3EPO, NTRK1
4hydrogen peroxide catabolic processGO:0427449.2HBA2, PRDX1
5response to electrical stimulusGO:0516029.2NTRK1, EPO

Molecular functions related to Pyruvate Kinase Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1pyruvate kinase activityGO:0047439.8PKM, PKLR
2potassium ion bindingGO:0309559.6PKM, PKLR
3peroxidase activityGO:0046019.5HBA2, PRDX1

Products for genes affiliated with Pyruvate Kinase Deficiency

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Pyruvate Kinase Deficiency

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet