PKHYP
MCID: ADN039
MIFTS: 17

Adenosine Triphosphate, Elevated, of Erythrocytes (PKHYP)

Categories: Genetic diseases

Aliases & Classifications for Adenosine Triphosphate, Elevated, of Erythrocytes

MalaCards integrated aliases for Adenosine Triphosphate, Elevated, of Erythrocytes:

Name: Adenosine Triphosphate, Elevated, of Erythrocytes 58 30 13 6 74
Pyruvate Kinase Hyperactivity 58 76 17
Adenosine Triphosphate, Elevated, Erythrocytes 41
High Red Cell Atp Syndrome 76
Pkhyp 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
adenosine triphosphate, elevated, of erythrocytes:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 102900
MedGen 43 C1863224
SNOMED-CT via HPO 70 109992005 127062003 263681008
UMLS 74 C1863224

Summaries for Adenosine Triphosphate, Elevated, of Erythrocytes

UniProtKB/Swiss-Prot : 76 Pyruvate kinase hyperactivity: Autosomal dominant phenotype characterized by increase of red blood cell ATP.

MalaCards based summary : Adenosine Triphosphate, Elevated, of Erythrocytes, is also known as pyruvate kinase hyperactivity. An important gene associated with Adenosine Triphosphate, Elevated, of Erythrocytes is PKLR (Pyruvate Kinase L/R). Related phenotypes are polycythemia and reduced erythrocyte 2,3-diphosphoglycerate concentration

Description from OMIM: 102900

Related Diseases for Adenosine Triphosphate, Elevated, of Erythrocytes

Symptoms & Phenotypes for Adenosine Triphosphate, Elevated, of Erythrocytes

Human phenotypes related to Adenosine Triphosphate, Elevated, of Erythrocytes:

33
# Description HPO Frequency HPO Source Accession
1 polycythemia 33 HP:0001901
2 reduced erythrocyte 2,3-diphosphoglycerate concentration 33 HP:0030271

Symptoms via clinical synopsis from OMIM:

58
Heme:
polycythemia

Lab:
high erythrocyte adenosine triphosphate
pyruvate kinase hyperactivity
low 2,3-diphosphoglycerate (2,3-dpg)
additional pk electrophoretic bands

Clinical features from OMIM:

102900

Drugs & Therapeutics for Adenosine Triphosphate, Elevated, of Erythrocytes

Search Clinical Trials , NIH Clinical Center for Adenosine Triphosphate, Elevated, of Erythrocytes

Genetic Tests for Adenosine Triphosphate, Elevated, of Erythrocytes

Genetic tests related to Adenosine Triphosphate, Elevated, of Erythrocytes:

# Genetic test Affiliating Genes
1 Adenosine Triphosphate, Elevated, of Erythrocytes 30 PKLR

Anatomical Context for Adenosine Triphosphate, Elevated, of Erythrocytes

Publications for Adenosine Triphosphate, Elevated, of Erythrocytes

Articles related to Adenosine Triphosphate, Elevated, of Erythrocytes:

# Title Authors Year
1
Novel type of red blood cell pyruvate kinase hyperactivity predicts a remote regulatory locus involved in PKLR gene expression. ( 24375447 )
2014
2
G-->T transition at cDNA nt 110 (K37Q) in the PKLR (pyruvate kinase) gene is the molecular basis of a case of hereditary increase of red blood cell ATP. ( 9090535 )
1997
3
Comparative study of human M2-type pyruvate kinases isolated from human leukocytes and erythrocytes of a patient with red cell pyruvate kinase hyperactivity. ( 2498076 )
1989
4
Pyruvate kinase hyperactivity genetically determined metabolic consequences and molecular characterization. ( 7426754 )
1980
5
Hereditary high ATP content of human erythrocytes. ( 4160306 )
1965

Variations for Adenosine Triphosphate, Elevated, of Erythrocytes

UniProtKB/Swiss-Prot genetic disease variations for Adenosine Triphosphate, Elevated, of Erythrocytes:

76
# Symbol AA change Variation ID SNP ID
1 PKLR p.Gly37Glu VAR_011435 rs118204087

ClinVar genetic disease variations for Adenosine Triphosphate, Elevated, of Erythrocytes:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PKLR NM_000298.5(PKLR): c.1614A> T (p.Glu538Asp) single nucleotide variant Uncertain significance rs201217064 GRCh38 Chromosome 1, 155291760: 155291760
2 PKLR NM_000298.5(PKLR): c.1614A> T (p.Glu538Asp) single nucleotide variant Uncertain significance rs201217064 GRCh37 Chromosome 1, 155261551: 155261551
3 PKLR NM_000298.5(PKLR): c.721G> T (p.Glu241Ter) single nucleotide variant Pathogenic rs201953584 GRCh37 Chromosome 1, 155264517: 155264517
4 PKLR NM_000298.5(PKLR): c.721G> T (p.Glu241Ter) single nucleotide variant Pathogenic rs201953584 GRCh38 Chromosome 1, 155294726: 155294726
5 PKLR NM_000298.5(PKLR): c.1516G> A (p.Val506Ile) single nucleotide variant Uncertain significance rs8177988 GRCh38 Chromosome 1, 155291858: 155291858
6 PKLR NM_000298.5(PKLR): c.1516G> A (p.Val506Ile) single nucleotide variant Uncertain significance rs8177988 GRCh37 Chromosome 1, 155261649: 155261649
7 PKLR NM_000298.5(PKLR): c.1456C> T (p.Arg486Trp) single nucleotide variant Pathogenic/Likely pathogenic rs116100695 GRCh38 Chromosome 1, 155291918: 155291918
8 PKLR NM_000298.5(PKLR): c.1456C> T (p.Arg486Trp) single nucleotide variant Pathogenic/Likely pathogenic rs116100695 GRCh37 Chromosome 1, 155261709: 155261709
9 PKLR NM_000298.5(PKLR): c.110G> A (p.Gly37Glu) single nucleotide variant Pathogenic rs118204087 GRCh38 Chromosome 1, 155300271: 155300271
10 PKLR NM_000298.5(PKLR): c.110G> A (p.Gly37Glu) single nucleotide variant Pathogenic rs118204087 GRCh37 Chromosome 1, 155270062: 155270062

Expression for Adenosine Triphosphate, Elevated, of Erythrocytes

Search GEO for disease gene expression data for Adenosine Triphosphate, Elevated, of Erythrocytes.

Pathways for Adenosine Triphosphate, Elevated, of Erythrocytes

GO Terms for Adenosine Triphosphate, Elevated, of Erythrocytes

Sources for Adenosine Triphosphate, Elevated, of Erythrocytes

3 CDC
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10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
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47 MGI
50 NCI
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55 NINDS
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58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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