PKHYP
MCID: ADN039
MIFTS: 19

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 56 29 13 6 71
Pyruvate Kinase Hyperactivity 56 73 17
Adenosine Triphosphate, Elevated, Erythrocytes 39
High Red Cell Atp Syndrome 73
Pkhyp 73

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
adenosine triphosphate, elevated, of erythrocytes:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 56 102900
MedGen 41 C1863224
SNOMED-CT via HPO 68 109992005 127062003 263681008
UMLS 71 C1863224

Summaries for Adenosine Triphosphate, Elevated, of Erythrocytes

OMIM : 56 Elevation of red cell ATP levels is accompanied by elevated red cell pyruvate kinase activity and mild erythrocytosis. Red cell life span is slightly shortened. The patients in whom this trait was first described were asymptomatic (summary by Beutler et al., 1997). (102900)

MalaCards based summary : Adenosine Triphosphate, Elevated, of Erythrocytes, also known as pyruvate kinase hyperactivity, is related to hemolytic anemia. 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

UniProtKB/Swiss-Prot : 73 Pyruvate kinase hyperactivity: Autosomal dominant phenotype characterized by increase of red blood cell ATP.

Related Diseases for Adenosine Triphosphate, Elevated, of Erythrocytes

Diseases related to Adenosine Triphosphate, Elevated, of Erythrocytes via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 hemolytic anemia 10.0

Symptoms & Phenotypes for Adenosine Triphosphate, Elevated, of Erythrocytes

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

31
# Description HPO Frequency HPO Source Accession
1 polycythemia 31 HP:0001901
2 reduced erythrocyte 2,3-diphosphoglycerate concentration 31 HP:0030271

Symptoms via clinical synopsis from OMIM:

56
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 29 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 PMID Year
1
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. 56 6
9090535 1997
2
Hereditary high ATP content of human erythrocytes. 56 6
4160306 1965
3
Pyruvate kinase hyperactivity genetically determined metabolic consequences and molecular characterization. 61 56
7426754 1980
4
A NEW INHERITED ABNORMALITY OF HUMAN ERYTHROCYTES: ELEVATED ERYTHROCYTIC ADENOSINE TRIPHOSPHATE. 56
14300761 1965
5
Novel type of red blood cell pyruvate kinase hyperactivity predicts a remote regulatory locus involved in PKLR gene expression. 61
24375447 2014
6
Comparative study of human M2-type pyruvate kinases isolated from human leukocytes and erythrocytes of a patient with red cell pyruvate kinase hyperactivity. 61
2498076 1989

Variations for Adenosine Triphosphate, Elevated, of Erythrocytes

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

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PKLR NM_000298.6(PKLR):c.721G>T (p.Glu241Ter)SNV Pathogenic 280113 rs201953584 1:155264517-155264517 1:155294726-155294726
2 PKLR NM_000298.6(PKLR):c.110G>A (p.Gly37Glu)SNV Pathogenic 1512 rs118204087 1:155270062-155270062 1:155300271-155300271
3 PKLR NM_000298.6(PKLR):c.1456C>T (p.Arg486Trp)SNV Conflicting interpretations of pathogenicity 1513 rs116100695 1:155261709-155261709 1:155291918-155291918
4 PKLR NM_000298.6(PKLR):c.1516G>A (p.Val506Ile)SNV Conflicting interpretations of pathogenicity 235407 rs8177988 1:155261649-155261649 1:155291858-155291858
5 PKLR NM_000298.6(PKLR):c.1614A>T (p.Glu538Asp)SNV Uncertain significance 449546 rs201217064 1:155261551-155261551 1:155291760-155291760

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

73
# Symbol AA change Variation ID SNP ID
1 PKLR p.Gly37Glu VAR_011435 rs118204087

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
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
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43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
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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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