MCID: PYR013
MIFTS: 58

Pyruvate Kinase Deficiency malady

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

Aliases & Classifications for Pyruvate Kinase Deficiency

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Aliases & Descriptions for Pyruvate Kinase Deficiency:

Name: Pyruvate Kinase Deficiency 52 48 24 25 12 50
Pyruvate Kinase Deficiency of Red Cells 52 48 70
Pk Deficiency 48 25 70
Hemolytic Anemia Due to Red Cell Pyruvate Kinase Deficiency 54 70
Pyruvate Kinase Deficiency of Erythrocytes 48 54
Red Cell Pyruvate Kinase Deficiency 70 27
Hereditary Non-Spherocytic Hemolytic Anemia Due to Pyruvate Kinase Deficiency 70
Anemia, Hemolytic, Congenital Nonspherocytic 68
 
Pyruvate Kinase-Deficient Hemolytic Anemia 70
Pyruvate Kinase Deficiency of Erythrocyte 70
Paroxysmal Kinesigenic Choreoathetosis 68
Deficiency of Pyruvate Kinase 68
Hnsha 70
Pkrd 70
Pkd 25

Characteristics:

Orphanet epidemiological data:

54
hemolytic anemia due to red cell pyruvate kinase deficiency:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000,1-9/100000 (Europe); Age of onset: Infancy,Neonatal; Age of death: any age

HPO:

64
pyruvate kinase deficiency:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 266200
Orphanet54 ORPHA766
ICD10 via Orphanet31 D55.2
MeSH39 D000746

Summaries for Pyruvate Kinase Deficiency

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NIH Rare Diseases:48 Pyruvate kinase deficiency is a genetic blood disorder characterized by low levels of an enzyme called pyruvate kinase, which is used by red blood cells. Without pyruvate kinase, red blood cells break down too easily, resulting in low levels of these cells (hemolytic anemia). The signs and symptoms of the disease may vary greatly from person to person. However, they usually include jaundice, enlargement of the spleen, and mild or severe hemolysis (red cell breakdown), leading to anemia. In some cases, the problems may first appear while in utero, causing a condition in which abnormal amounts of fluid build up in two or more body areas of the fetus (hydrops fetalis). Newborns may present with prolonged jaundice and anemia. Older children may be pale (due to anemia) and have intermittent episodes of jaundice. Mild cases may escape detection until adulthood. Although the anemia tends to stabilize in adulthood, episodes of anemia may occur with acute infections, stress, and pregnancy. Pyruvate kinase deficiency is caused by a mutation in the PKLR gene and is inherited in an autosomal recessive fashion. Treatment remains supportive rather than curative.   Last updated: 1/13/2016

MalaCards based summary: Pyruvate Kinase Deficiency, also known as pyruvate kinase deficiency of red cells, is related to thalassemia minor and hepatitis, and has symptoms including jaundice, cholelithiasis and cholecystitis. An important gene associated with Pyruvate Kinase Deficiency is PKLR (Pyruvate Kinase, Liver And RBC), and among its related pathways are Pyruvate metabolism and Abacavir Pathway, Pharmacokinetics/Pharmacodynamics. Affiliated tissues include spleen, testes and liver, and related mouse phenotypes are Increased shRNA abundance and no phenotypic analysis.

UniProtKB/Swiss-Prot:70 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.

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:52 Red cell pyruvate kinase deficiency is the most common cause of hereditary nonspherocytic hemolytic anemia. PK... (266200) more...

Wikipedia:71 Pyruvate kinase deficiency, also called erythrocyte pyruvate kinase deficiency, is an inherited... more...

Related Diseases for Pyruvate Kinase Deficiency

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

(show top 50)    (show all 73)
idRelated DiseaseScoreTop Affiliating Genes
1thalassemia minor29.4HBA2, HBG2, HFE
2hepatitis29.2G6PD, PKLR, SLC4A1
3malaria28.7EPO, G6PD, HBA2, SLC4A1
4pyruvate kinase deficiency, liver type12.0
5pyruvate kinase deficiency, muscle type12.0
6cystic kidney disease11.2
7polycystic kidney and hepatic disease11.0
8hemolytic anemia due to hexokinase deficiency11.0
9polycystic liver disease11.0
10convulsions, familial infantile, with paroxysmal choreoathetosis10.9
11familial paroxysmal kinesigenic dyskinesia10.9
12glomerulocystic kidney disease with hyperuricemia and isosthenuria10.8
13episodic kinesigenic dyskinesia 110.7
14polycystic kidney disease 1, autosomal dominant10.7
15polycystic kidney disease 2, autosomal dominant10.7
16hemolytic anemia10.5
17larynx sarcoma10.5G6PD, PKLR
18peripheral vascular disease10.4G6PD, HBG2
19renal artery disease10.4G6PD, PKLR
20neonatal respiratory failure10.3NTRK1, PKLR
21premature menopause10.3G6PD, HBG2
22preeclampsia/eclampsia 410.3G6PD, HBA2
23endometrial adenocarcinoma10.2HFE, PKLR
24joint disorders10.2G6PD, MTHFR
25basilar artery insufficiency10.1EPO, HFE
26deficiency anemia10.1
27dic in newborn10.1EPO, HBA2
28timothy syndrome type 110.1EPO, HBA2
29methylmalonic aciduria and homocystinuria type cblg10.1EPO, MTHFR
30suppurative otitis media10.1EPO, HBA2
31hemochromatosis10.0
32leukemia10.0
33congenital hemolytic anemia10.0
34myxozoa10.0
35thbd-related atypical hemolytic-uremic syndrome10.0HBG2, HFE, MTHFR
36hereditary spherocytosis9.9
37kohler's disease9.9EPO, HFE
38tendinosis9.9EPO, HBG2, HFE
39childhood malignant mesenchymoma9.9EPO, G6PD, HBA2
40phenylketonuria9.9
41thalassemia9.9
42cholelithiasis9.9
43neonatal jaundice9.9
44sickle cell disease9.9
45hydrops fetalis9.9
46articulation disorder9.8EPO, SLC4A1
47wernicke encephalopathy9.8G6PD, PKM, SLC4A1
48opportunistic mycosis9.8HBA2, MTHFR
49pancreatic cancer9.7
50lymphoma9.7

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



Diseases related to pyruvate kinase deficiency

Symptoms & Phenotypes for Pyruvate Kinase Deficiency

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Symptoms by clinical synopsis from OMIM:

266200

Clinical features from OMIM:

266200

Human phenotypes related to Pyruvate Kinase Deficiency:

 64 (show all 11)
id Description HPO Frequency HPO Source Accession
1 jaundice64 HP:0000952
2 cholelithiasis64 HP:0001081
3 cholecystitis64 HP:0001082
4 intrauterine growth retardation64 HP:0001511
5 abnormality of the amniotic fluid64 HP:0001560
6 splenomegaly64 HP:0001744
7 nonimmune hydrops fetalis64 HP:0001790
8 reticulocytosis64 HP:0001923
9 chronic hemolytic anemia64 HP:0004870
10 increased red cell osmotic fragility64 HP:0005502
11 unconjugated hyperbilirubinemia64 HP:0008282

UMLS symptoms related to Pyruvate Kinase Deficiency:


dystonia, dystonia, paroxysmal

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

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00327-A9.6EPO, G6PD, HBG2, MTHFR

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

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00030129.3HBG2, HFE, MTHFR, NTRK1, PKM
2MP:00028738.2EPO, HBG2, HFE, NTRK1, PKLR, PKM
3MP:00053978.0EPO, G6PD, GDF15, HFE, NTRK1, PKLR
4MP:00107686.6EPO, G6PD, GDF15, HBA2, HFE, MTHFR

Drugs & Therapeutics for Pyruvate Kinase Deficiency

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Pyruvateapproved, NutraceuticalPhase 2, Phase 138

Interventional clinical trials:

idNameStatusNCT IDPhase
1A Study of AG-348 in Adult Patients With Pyruvate Kinase DeficiencyActive, not recruitingNCT02476916Phase 2
2A Safety and Tolerability Study of AG-519 in Healthy SubjectsTerminatedNCT02630927Phase 1
3Pyruvate Kinase Deficiency Natural History StudyRecruitingNCT02053480

Search NIH Clinical Center for Pyruvate Kinase Deficiency

Genetic Tests for Pyruvate Kinase Deficiency

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Genetic tests related to Pyruvate Kinase Deficiency:

id Genetic test Affiliating Genes
1 Pyruvate Kinase Deficiency of Red Cells27
2 Pyruvate Kinase Deficiency24 PKLR

Anatomical Context for Pyruvate Kinase Deficiency

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MalaCards organs/tissues related to Pyruvate Kinase Deficiency:

36
Spleen, Testes, Liver, Neutrophil, Spinal cord, Bone, Bone marrow

Publications for Pyruvate Kinase Deficiency

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Articles related to Pyruvate Kinase Deficiency:

(show top 50)    (show all 281)
idTitleAuthorsYear
1
Red cell pyruvate kinase deficiency in Spain: A study of 15 cases. (27871768)
2017
2
Cord blood transplantation in a young child with pyruvate kinase deficiency. (27460399)
2016
3
Safe and Efficient Preclinical Gene Therapy for Pyruvate Kinase Deficiency. (27138040)
2016
4
Analysis and prenatal diagnosis of PKLR gene mutations in a family with pyruvate kinase deficiency]. (26829734)
2016
5
Siblings with severe pyruvate kinase deficiency and a complex genotype. (27354418)
2016
6
Two Novel Missense Mutations and a 5bp Deletion in the Erythroid-Specific Promoter of the PKLR Gene in Two Unrelated Patients With Pyruvate Kinase Deficient Transfusion-Dependent Chronic Nonspherocytic Hemolytic Anemia. (26728349)
2016
7
Mitral Valve Replacement With Cardiopulmonary Bypass in a Patient With Pyruvate Kinase Deficiency. (27498259)
2016
8
Plesiomonas shigelloides Septic Shock Leading to Death of Postsplenectomy Patient with Pyruvate Kinase Deficiency and Hemochromatosis. (27610253)
2016
9
Congenital dyserythropoietic anemia associated to a GATA1 mutation aggravated by pyruvate kinase deficiency. (27342114)
2016
10
Diagnosis of Pyruvate Kinase Deficiency. (26836632)
2016
11
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
12
Real-time PCR genotyping assay for feline erythrocyte pyruvate kinase deficiency and mutant allele frequency in purebred cats in Japan. (25716288)
2015
13
Erythrocyte pyruvate kinase deficiency: 2015 status report. (26087744)
2015
14
Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells. (26549847)
2015
15
Cholestasis and Hepatic Failure in a Neonate: A Case Report of Severe Pyruvate Kinase Deficiency. (26459649)
2015
16
A novel and a previously described compound heterozygous PKLR gene mutations causing pyruvate kinase deficiency in a Chinese child. (24601847)
2014
17
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
18
Partial pyruvate kinase deficiency aggravates the phenotypic expression of band 3 deficiency in a family with hereditary spherocytosis. (25388786)
2014
19
Dyserythropoiesis in a child with pyruvate kinase deficiency and coexistent unilateral multicystic dysplastic kidney. (24481986)
2014
20
A case of hereditary spherocytosis misdiagnosed as pyruvate kinase deficient hemolytic anemia. (23724634)
2013
21
Molecular and clinical heterogeneity in pyruvate kinase deficiency in India. (23770304)
2013
22
Correction: Stem Cell Selection In Vivo Using Foamy Vectors Cures Canine Pyruvate Kinase Deficiency. (24204532)
2013
23
Erythrocyte pyruvate kinase deficiency in three West Highland white terriers in Ireland and the UK. (23842571)
2013
24
A case of severe pyruvate kinase deficiency in a primigravida: successful outcome. (27757165)
2013
25
Erythrocyte pyruvate kinase deficiency mutation identified in multiple breeds of domestic cats. (23110753)
2012
26
Stem cell selection in vivo using foamy vectors cures canine pyruvate kinase deficiency. (23028826)
2012
27
Pyruvate kinase deficiency in sub-Saharan Africa: identification of a highly frequent missense mutation (G829A;Glu277Lys) and association with malaria. (23082140)
2012
28
Erythrocyte pyruvate kinase deficiency in an old-order Amish cohort: longitudinal risk and disease management. (21815188)
2011
29
Six children with pyruvate kinase deficiency from one small town: molecular characterization of the PK-LR gene. (21784452)
2011
30
First reported case of prenatal diagnosis for pyruvate kinase deficiency in a Chinese family. (22183074)
2011
31
Pyruvate kinase deficiency as a cause of extreme hyperbilirubinemia in neonates from a polygamist community. (20182430)
2010
32
Red cell pyruvate kinase deficiency in Southern Sardinia. (20870434)
2010
33
Glucose-6-phosphate dehydrogenase and red cell pyruvate kinase deficiency in neonatal jaundice cases in egypt. (20426517)
2010
34
Images in haematology. Paravertebral extramedullary haemopoiesis associated with pyruvate kinase deficiency. (19222474)
2009
35
A rare combination of two inherited disorders in one patient: pyruvate kinase deficiency and hemochromatosis. (19137298)
2009
36
Spectrum of novel mutations in the human PKLR gene in pyruvate kinase-deficient Indian patients with heterogeneous clinical phenotypes. (18759866)
2009
37
Novel human pathological mutations. Gene symbol: PKLR. Disease: pyruvate kinase deficiency. (19309805)
2009
38
Idiopathic pulmonary arterial hypertension in a patient with pyruvate kinase deficiency and paravertebral extramedullary hematopoiesis. (19039535)
2009
39
Erythrocytic pyruvate kinase deficiency and AB blood types in Australian Abyssinian and Somali cats. (19178476)
2009
40
Regulation of iron metabolism through GDF15 and hepcidin in pyruvate kinase deficiency. (19120353)
2009
41
Rescue of pyruvate kinase deficiency in mice by gene therapy using the human isoenzyme. (19755962)
2009
42
Novel human pathological mutations. Gene symbol: PKLR. Disease: pyruvate kinase deficiency. (19320017)
2009
43
Novel human pathological mutations. Gene symbol: PKLR. Disease: pyruvate kinase deficiency. (19309787)
2009
44
Deferasirox in pyruvate kinase deficiency. (18810437)
2009
45
Adenosine triphosphate depletion of erythrocytes simulates the phenotype associated with pyruvate kinase deficiency and confers protection against Plasmodium falciparum in vitro. (19743919)
2009
46
Clinical course of pyruvate kinase deficiency in Abyssinian and Somali cats. (18077199)
2008
47
Sickle cell disease in a carrier with pyruvate kinase deficiency. (19055867)
2008
48
Relative red blood cell enzyme levels as a clue to the diagnosis of pyruvate kinase deficiency. (18726918)
2008
49
Pyruvate kinase deficiency and malaria. (18420493)
2008
50
Bilirubin cholelithiasis and haemosiderosis in an anaemic pyruvate kinase-deficient Somali cat. (18684151)
2008

Variations for Pyruvate Kinase Deficiency

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

70 (show all 100)
id Symbol AA change Variation ID SNP ID
1PKLRp.Met107ThrVAR_004028
2PKLRp.Val134AspVAR_004030rs574051756
3PKLRp.Leu155ProVAR_004031
4PKLRp.Glu172GlnVAR_004032rs757359024
5PKLRp.Arg163CysVAR_004033rs118204083
6PKLRp.Gly275ArgVAR_004035rs747549978
7PKLRp.Asp281AsnVAR_004036
8PKLRp.Phe287ValVAR_004037
9PKLRp.Ile314ThrVAR_004038
10PKLRp.Asp331GluVAR_004039rs138476691
11PKLRp.Gly332SerVAR_004040rs773626254
12PKLRp.Ala336SerVAR_004041
13PKLRp.Arg337ProVAR_004042
14PKLRp.Arg337GlnVAR_004043
15PKLRp.Asp339HisVAR_004044
16PKLRp.Gly341AlaVAR_004045
17PKLRp.Ile357ThrVAR_004047rs779152555
18PKLRp.Arg359CysVAR_004048rs138871700
19PKLRp.Arg359HisVAR_004049
20PKLRp.Asn361AspVAR_004050rs765903674
21PKLRp.Val368PheVAR_004051
22PKLRp.Thr384MetVAR_004052rs74315362
23PKLRp.Ala392ThrVAR_004053
24PKLRp.Asn393LysVAR_004054
25PKLRp.Asn393SerVAR_004055rs776594413
26PKLRp.Thr408IleVAR_004057
27PKLRp.Gln421LysVAR_004058rs118204084
28PKLRp.Arg426GlnVAR_004059rs768002493
29PKLRp.Arg426TrpVAR_004060
30PKLRp.Ala431ThrVAR_004061rs762591322
31PKLRp.Gly458AspVAR_004062rs755522396
32PKLRp.Ala459ValVAR_004063
33PKLRp.Val460MetVAR_004064rs752034960
34PKLRp.Ala468ValVAR_004065
35PKLRp.Arg486TrpVAR_004066rs116100695
36PKLRp.Arg490TrpVAR_004067rs200133000
37PKLRp.Ala495ValVAR_004068rs141560532
38PKLRp.Arg498CysVAR_004069rs551883218
39PKLRp.Arg498HisVAR_004070rs758327704
40PKLRp.Arg510GlnVAR_004071rs113403872
41PKLRp.Arg532GlnVAR_004072rs758278200
42PKLRp.Arg532TrpVAR_004073rs201255024
43PKLRp.Val552MetVAR_004074rs370316462
44PKLRp.Arg559GlyVAR_004075
45PKLRp.Asn566LysVAR_004076
46PKLRp.Ser80ProVAR_011436
47PKLRp.Arg86ProVAR_011437
48PKLRp.Ile90AsnVAR_011438
49PKLRp.Gly95ArgVAR_011439rs750857114
50PKLRp.Gly111ArgVAR_011440
51PKLRp.Ala115ProVAR_011441
52PKLRp.Ser120PheVAR_011442
53PKLRp.Ser130TyrVAR_011443rs118204089
54PKLRp.Gly159ValVAR_011444
55PKLRp.Gly222AlaVAR_011445
56PKLRp.Asp293AsnVAR_011446
57PKLRp.Gly263ArgVAR_011447
58PKLRp.Gly263TrpVAR_011448
59PKLRp.Val288LeuVAR_011449
60PKLRp.Ala295ValVAR_011450rs766353400
61PKLRp.Ile310AsnVAR_011451
62PKLRp.Glu315LysVAR_011452
63PKLRp.Asp331AsnVAR_011453rs773893686
64PKLRp.Gly341AspVAR_011454
65PKLRp.Ile342PheVAR_011455
66PKLRp.Lys348AsnVAR_011456
67PKLRp.Gly364AspVAR_011458
68PKLRp.Ser376IleVAR_011459
69PKLRp.Glu387GlyVAR_011460
70PKLRp.Asp390AsnVAR_011461rs147034239
71PKLRp.Ala394AspVAR_011462
72PKLRp.Ala394ValVAR_011463
73PKLRp.Thr408AlaVAR_011464
74PKLRp.Glu427AlaVAR_011465
75PKLRp.Glu427AspVAR_011466
76PKLRp.Thr477AlaVAR_011467rs759466273
77PKLRp.Ser485PheVAR_011468
78PKLRp.Arg488GlnVAR_011469rs369183199
79PKLRp.Ala495ThrVAR_011470
80PKLRp.Arg504LeuVAR_011471rs185753709
81PKLRp.Gly511ArgVAR_011472
82PKLRp.Arg531CysVAR_011473
83PKLRp.Ile153ThrVAR_011474
84PKLRp.Ile219ThrVAR_011475rs200572803
85PKLRp.Val335MetVAR_011476
86PKLRp.Ala352AspVAR_011477
87PKLRp.Arg385TrpVAR_011478
88PKLRp.Ala468GlyVAR_011479rs750540943
89PKLRp.Arg479HisVAR_011480rs118204085
90PKLRp.Gly557AlaVAR_011481
91PKLRp.Arg569GlnVAR_011482rs61755431
92PKLRp.Arg40TrpVAR_058467
93PKLRp.Leu73ProVAR_058469
94PKLRp.Ala154ThrVAR_058470rs780192373
95PKLRp.Arg163LeuVAR_058471
96PKLRp.Gly165ValVAR_058472
97PKLRp.Leu272ValVAR_058473rs147659527
98PKLRp.Val320LeuVAR_058474rs549295725
99PKLRp.Gly358GluVAR_058475
100PKLRp.Leu374ProVAR_058476

Clinvar genetic disease variations for Pyruvate Kinase Deficiency:

5 (show all 14)
id Gene Variation Type Significance SNP ID Assembly Location
1PKLRPKLR, 1-BP DELdeletionPathogenicChr na, -1: -1
2PKLRNM_000298.5(PKLR): c.487C> T (p.Arg163Cys)SNVPathogenicrs118204083GRCh37Chr 1, 155265248: 155265248
3PKLRNM_000298.5(PKLR): c.1151C> T (p.Thr384Met)SNVPathogenicrs74315362GRCh37Chr 1, 155263347: 155263347
4PKLRNM_000298.5(PKLR): c.1261C> A (p.Gln421Lys)SNVPathogenicrs118204084GRCh37Chr 1, 155263237: 155263237
5PKLRNM_000298.5(PKLR): c.1436G> A (p.Arg479His)SNVPathogenicrs118204085GRCh37Chr 1, 155262968: 155262968
6PKLRNM_000298.5(PKLR): c.1529G> A (p.Arg510Gln)SNVPathogenicrs113403872GRCh37Chr 1, 155261636: 155261636
7PKLRNM_000298.5(PKLR): c.1456C> T (p.Arg486Trp)SNVLikely pathogenic, Pathogenicrs116100695GRCh37Chr 1, 155261709: 155261709
8PKLRNM_000298.5(PKLR): c.389C> A (p.Ser130Tyr)SNVPathogenicrs118204089GRCh37Chr 1, 155265346: 155265346
9PKLRPKLR, -83G-CSNVPathogenicChr na, -1: -1
10PKLRPKLR, 1318G-TSNVPathogenicChr na, -1: -1
11PKLRPKLR, 1269G-ASNVPathogenicChr na, -1: -1
12PKLRPKLR, 1-BP DEL, 823GdeletionPathogenicChr na, -1: -1
13PKLRNM_000298.5(PKLR): c.721G> T (p.Glu241Ter)SNVPathogenicrs201953584GRCh37Chr 1, 155264517: 155264517
14PKLRNM_000298.5(PKLR): c.391_393delATC (p.Ile131del)deletionLikely pathogenicrs886045351GRCh38Chr 1, 155295551: 155295553

Expression for genes affiliated with Pyruvate Kinase Deficiency

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

Pathways for genes affiliated with Pyruvate Kinase Deficiency

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

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.9PKLR, PKM
29.9PKLR, PKM
39.5G6PD, NTRK1, PKM
4
Show member pathways
9.1G6PD, MTHFR, PKLR, PKM

GO Terms for genes affiliated with Pyruvate Kinase Deficiency

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

idNameGO IDScoreTop Affiliating Genes
1hemoglobin complexGO:00058339.6HBA2, HBG2
2blood microparticleGO:00725629.0HBA2, HBG2, SLC4A1

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

(show all 17)
idNameGO IDScoreTop Affiliating Genes
1ATP biosynthetic processGO:000675410.5PKLR, PKM
2canonical glycolysisGO:006162110.5PKLR, PKM
3glycolytic processGO:000609610.5PKLR, PKM
4pyruvate biosynthetic processGO:004286610.5PKLR, PKM
5erythrocyte maturationGO:004324910.3EPO, G6PD
6negative regulation of neuron deathGO:190121510.3EPO, NTRK1
7positive regulation of Ras protein signal transductionGO:004657910.2EPO, NTRK1
8response to axon injuryGO:004867810.2EPO, NTRK1
9response to electrical stimulusGO:005160210.2EPO, NTRK1
10oxygen transportGO:001567110.2HBA2, HBG2
11acute-phase responseGO:000695310.2EPO, HFE
12blood circulationGO:000801510.2EPO, MTHFR
13positive regulation of pathway-restricted SMAD protein phosphorylationGO:001086210.1GDF15, HFE
14response to interleukin-1GO:007055510.0EPO, MTHFR
15bicarbonate transportGO:00157019.8HBA2, SLC4A1
16response to hypoxiaGO:00016669.4EPO, MTHFR, PKLR, PKM
17response to nutrientGO:00075849.3EPO, PKLR, PKM

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

idNameGO IDScoreTop Affiliating Genes
1NADP bindingGO:005066110.2G6PD, MTHFR
2oxygen bindingGO:001982510.0HBA2, HBG2
3oxygen transporter activityGO:00053449.9HBA2, HBG2
4pyruvate kinase activityGO:00047439.9PKLR, PKM
5potassium ion bindingGO:00309559.8PKLR, PKM

Sources for Pyruvate Kinase Deficiency

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet