PKHYP
MCID: ADN039
MIFTS: 17

Adenosine Triphosphate, Elevated, of Erythrocytes (PKHYP) malady

Categories: Genetic diseases

Aliases & Classifications for Adenosine Triphosphate, Elevated, of Erythrocytes

Aliases & Descriptions for Adenosine Triphosphate, Elevated, of Erythrocytes:

Name: Adenosine Triphosphate, Elevated, of Erythrocytes 54 13 69
Elevated Adenosine Triphosphate of Erythrocytes 24 29
Pyruvate Kinase Hyperactivity 24 66
High Red Cell Atp Syndrome 66
Pkhyp 66

Characteristics:

HPO:

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


Classifications:



External Ids:

OMIM 54 102900
MedGen 40 C1863224

Summaries for Adenosine Triphosphate, Elevated, of Erythrocytes

UniProtKB/Swiss-Prot : 66 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 elevated adenosine triphosphate of erythrocytes, 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, Liver And RBC). The drugs Adenosine and Pharmaceutical Solutions have been mentioned in the context of this disorder.

Description from OMIM: 102900

Related Diseases for Adenosine Triphosphate, Elevated, of Erythrocytes

Symptoms & Phenotypes for Adenosine Triphosphate, Elevated, of Erythrocytes

Symptoms by clinical synopsis from OMIM:

102900

Clinical features from OMIM:

102900

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

32
id 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

Drugs for Adenosine Triphosphate, Elevated, of Erythrocytes (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Adenosine Approved, Investigational 58-61-7 60961
2 Pharmaceutical Solutions

Interventional clinical trials:


id Name Status NCT ID Phase
1 Testing Mitochondria Activity and Blood Lipid Content of Multiple Sclerosis Patients Unknown status NCT01918501
2 Mendelian Reverse Cholesterol Transport Study Active, not recruiting NCT01782027

Search 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:

id Genetic test Affiliating Genes
1 Adenosine Triphosphate, Elevated, of Erythrocytes 29
2 Elevated Adenosine Triphosphate of Erythrocytes 24 PKLR

Anatomical Context for Adenosine Triphosphate, Elevated, of Erythrocytes

Publications for Adenosine Triphosphate, Elevated, of Erythrocytes

Variations for Adenosine Triphosphate, Elevated, of Erythrocytes

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

66
id 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
id 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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