PKHYP
MCID: ADN039
MIFTS: 16

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 57 29 13 6 73
Pyruvate Kinase Hyperactivity 57 75
Adenosine Triphosphate, Elevated, Erythrocytes 40
High Red Cell Atp Syndrome 75
Pkhyp 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
adenosine triphosphate, elevated, of erythrocytes:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 102900
MedGen 42 C1863224
SNOMED-CT via HPO 69 263681008 109992005 127062003
UMLS 73 C1863224

Summaries for Adenosine Triphosphate, Elevated, of Erythrocytes

UniProtKB/Swiss-Prot : 75 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

Symptoms via clinical synopsis from OMIM:

57
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:

32
# Description HPO Frequency HPO Source Accession
1 polycythemia 32 HP:0001901
2 reduced erythrocyte 2,3-diphosphoglycerate concentration 32 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 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 Year
1
Novel type of red blood cell pyruvate kinase hyperactivity predicts a remote regulatory locus involved in PKLR gene expression. ( 24375447 )
2014
2
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

Variations for Adenosine Triphosphate, Elevated, of Erythrocytes

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

75
# 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
2 PKLR NM_000298.5(PKLR): c.110G> A (p.Gly37Glu) single nucleotide variant Pathogenic rs118204087 GRCh38 Chromosome 1, 155300271: 155300271

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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