MCID: ADN039
MIFTS: 15

Adenosine Triphosphate, Elevated, of Erythrocytes

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 53 28 13 69
Pyruvate Kinase Hyperactivity 53 71
High Red Cell Atp Syndrome 71
Pkhyp 71

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant


HPO:

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


Classifications:



External Ids:

OMIM 53 102900
MedGen 39 C1863224
SNOMED-CT via HPO 65 263681008 109992005 127062003
UMLS 69 C1863224

Summaries for Adenosine Triphosphate, Elevated, of Erythrocytes

UniProtKB/Swiss-Prot : 71 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, and has symptoms including polycythemia and reduced erythrocyte 2,3-diphosphoglycerate concentration. An important gene associated with Adenosine Triphosphate, Elevated, of Erythrocytes is PKLR (Pyruvate Kinase L/R).

Description from OMIM: 102900

Related Diseases for Adenosine Triphosphate, Elevated, of Erythrocytes

Symptoms & Phenotypes for Adenosine Triphosphate, Elevated, of Erythrocytes

Symptoms via clinical synopsis from OMIM:

53
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

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

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 28 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

Variations for Adenosine Triphosphate, Elevated, of Erythrocytes

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

71
# 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.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
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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