MCID: ADN039
MIFTS: 17

Adenosine Triphosphate, Elevated, of Erythrocytes malady

Genetic diseases (common) category

Aliases & Classifications for Adenosine Triphosphate, Elevated, of Erythrocytes

About this section

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

Name: Adenosine Triphosphate, Elevated, of Erythrocytes 49 11 24
Pyruvate Kinase Hyperactivity 67
 
High Red Cell Atp Syndrome 67
Pkhyp 67


Classifications:



External Ids:

OMIM49 102900
MedGen34 C1863224

Summaries for Adenosine Triphosphate, Elevated, of Erythrocytes

About this section
UniProtKB/Swiss-Prot:67 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 autosomal dominant inheritance, 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). Affiliated tissues include testes.

Description from OMIM:49 102900

Related Diseases for Adenosine Triphosphate, Elevated, of Erythrocytes

About this section

Symptoms for Adenosine Triphosphate, Elevated, of Erythrocytes

About this section

Symptoms by clinical synopsis from OMIM:

102900

Clinical features from OMIM:

102900

HPO human phenotypes related to Adenosine Triphosphate, Elevated, of Erythrocytes:

id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 polycythemia HP:0001901
3 reduced erythrocyte 2,3-diphosphoglycerate concentration HP:0030271

Drugs & Therapeutics for Adenosine Triphosphate, Elevated, of Erythrocytes

About this section

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Adenosineapproved, investigational34058-61-760961
Synonyms:
(2R,3R,4S,5R)-2-(6-Aminopurin-9-yl)-5-(hydroxymethyl)oxolane-3,4-diol
(2R,3R,4S,5R)-2-(6-amino-9H-purin-9-yl)-5-(hydroxymethyl)oxolane-3,4-diol
1-(6-Amino-9H-purin-9-yl)-1-deoxy-beta-D-Ribofuranose
1-(6-Amino-9H-purin-9-yl)-1-deoxy-beta-delta-Ribofuranose
1odi
2fqy
2gl0
30143-02-3
4-Aminopyrazolo[3,4-d]pyrimidine ribonucleoside
46946-45-6
46969-16-8
58-61-7
6-Amino-9-.beta.-ribofuranosyl-9H-purine
6-Amino-9-beta-D-ribofuranosyl-9H-purine
6-Amino-9beta-D-ribofuranosyl-9H-purine
6-Amino-9beta-delta-ribofuranosyl-9H-purine
9-(beta-D-Arabinofuranosyl)adenine
9-beta-D-Arabinofuranosyladenine
9-beta-D-Ribofuranosidoadenine
9-beta-D-Ribofuranosyl-9H-purin-6-amine
9-beta-D-Ribofuranosyladenine
9-beta-delta-Arabinofuranosyladenine
9-beta-delta-Ribofuranosidoadenine
9-beta-delta-Ribofuranosyl-9H-purin-6-amine
9-beta-delta-Ribofuranosyladenine
9beta-D-Ribofuranosyladenine
9beta-D-ribofuranosyl-9H-Purin-6-amine
9beta-delta-Ribofuranosyladenine
9beta-delta-ribofuranosyl-9H-Purin-6-amine
A0152
A4036_SIGMA
A9251_SIGMA
AC1L1U8O
AC1Q1ID3
AC1Q52XU
ADN
AI3-52413
Ade-Rib
Ade-rib
Adenin riboside
Adenine 9-beta-D-arabinofuranoside
Adenine deoxyribonucleoside
Adenine nucleoside
Adenine riboside
Adenine-9-beta-D-ribofuranoside
Adenine-9beta-D-Ribofuranoside
Adenine-9beta-delta-Ribofuranoside
Adenocard
Adenocard (TN)
Adenocard, Adenosine
Adenocor
Adenoscan
Adenoscan (TN)
Adenosin
Adenosin [German]
Adenosina
Adenosine
Adenosine (JAN/USP)
Adenosine [USAN:BAN]
Adenosine, homopolymer
Adenosinum
Adensoine
Adenyldeoxyriboside
Ado
Adénosine
BB_NC-0565
BSPBio_001796
Bio1_000437
 
Bio1_000926
Bio1_001415
Boniton
C00212
CCRIS 2557
CHEBI:16335
CHEMBL477
CID60961
Caswell No. 010B
D000241
D00045
DB00640
Deoxyadenosine
Desoxyadenosine
EA6C60C2-6AFB-4264-A2F0-541373DB950E
EINECS 200-389-9
FT-0082881
HMS1920A13
HMS2091G13
KBio3_001296
LS-15085
MEDR-640
MLS000069638
MLS002153227
MolPort-001-838-229
Myocol
NCGC00023673-03
NCGC00023673-04
NCGC00023673-05
NCGC00023673-06
NCGC00023673-07
NSC 627048
NSC 7652
NSC627048
NSC7652
Nucleocardyl
Pallacor
Polyadenosine
Polyriboadenosine
S1647_Selleck
SDCCGMLS-0003108.P003
SMR000058216
SPBio_001194
SPECTRUM1500107
SR 96225
SR-96225
SUN-Y4001
Sandesin
Spectrum2_001257
Spectrum3_000288
TL8003749
UNII-K72T3FS567
USAF CB-10
V0098
Vidarabine
ZINC02169830
adenine-D-ribose
adenosine
b-D-Adenosine
beta-Adenosine
beta-D-Adenosine
beta-D-Ribofuranoside, adenine-9
beta-delta-Adenosine
bmse000061
nchembio.143-comp9
nchembio.186-comp109
nchembio.2007.56-comp13
nchembio.64-comp4
nchembio706-5
2Albunex145

Interventional clinical trials:

idNameStatusNCT IDPhase
1Testing Mitochondria Activity and Blood Lipid Content of Multiple Sclerosis PatientsRecruitingNCT01918501
2Mendelian Reverse Cholesterol Transport StudyRecruitingNCT01782027

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

Genetic Tests for Adenosine Triphosphate, Elevated, of Erythrocytes

About this section

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

id Genetic test Affiliating Genes
1 Adenosine Triphosphate, Elevated, of Erythrocytes24

Anatomical Context for Adenosine Triphosphate, Elevated, of Erythrocytes

About this section

MalaCards organs/tissues related to Adenosine Triphosphate, Elevated, of Erythrocytes:

33
Testes

Animal Models for Adenosine Triphosphate, Elevated, of Erythrocytes or affiliated genes

About this section

Publications for Adenosine Triphosphate, Elevated, of Erythrocytes

About this section

Variations for Adenosine Triphosphate, Elevated, of Erythrocytes

About this section

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

67
id Symbol AA change Variation ID SNP ID
1PKLRp.Gly37GluVAR_011435

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

5
id Gene Variation Type Significance SNP ID Assembly Location
1PKLRNM_000298.5(PKLR): c.110G> A (p.Gly37Glu)single nucleotide variantPathogenicrs118204087GRCh37Chr 1, 155270062: 155270062

Expression for genes affiliated with Adenosine Triphosphate, Elevated, of Erythrocytes

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

Pathways for genes affiliated with Adenosine Triphosphate, Elevated, of Erythrocytes

About this section

GO Terms for genes affiliated with Adenosine Triphosphate, Elevated, of Erythrocytes

About this section

Sources for Adenosine Triphosphate, Elevated, of Erythrocytes

About this section
2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet