MCID: ADN039
MIFTS: 16

Adenosine Triphosphate, Elevated, of Erythrocytes malady

Category: Genetic diseases (common)

Aliases & Classifications for Adenosine Triphosphate, Elevated, of Erythrocytes

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

Name: Adenosine Triphosphate, Elevated, of Erythrocytes 50 25 12
Pyruvate Kinase Hyperactivity 68
 
High Red Cell Atp Syndrome 68
Pkhyp 68

Characteristics:

HPO:

62
adenosine triphosphate, elevated, of erythrocytes:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM50 102900
MedGen35 C1863224

Summaries for Adenosine Triphosphate, Elevated, of Erythrocytes

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UniProtKB/Swiss-Prot:68 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, Liver And RBC). Affiliated tissues include testes.

Description from OMIM:50 102900

Related Diseases for Adenosine Triphosphate, Elevated, of Erythrocytes

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Symptoms for Adenosine Triphosphate, Elevated, of Erythrocytes

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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 polycythemia HP:0001901
2 reduced erythrocyte 2,3-diphosphoglycerate concentration HP:0030271

Drugs & Therapeutics for Adenosine Triphosphate, Elevated, of Erythrocytes

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Adenosine38858-61-760961
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 (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

Interventional clinical trials:

idNameStatusNCT IDPhase
1Testing Mitochondria Activity and Blood Lipid Content of Multiple Sclerosis PatientsRecruitingNCT01918501
2Mendelian Reverse Cholesterol Transport StudyActive, not recruitingNCT01782027

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

Genetic Tests for Adenosine Triphosphate, Elevated, of Erythrocytes

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

id Genetic test Affiliating Genes
1 Adenosine Triphosphate, Elevated, of Erythrocytes25

Anatomical Context for Adenosine Triphosphate, Elevated, of Erythrocytes

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

34
Testes

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

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Publications for Adenosine Triphosphate, Elevated, of Erythrocytes

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Variations for Adenosine Triphosphate, Elevated, of Erythrocytes

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

68
id Symbol AA change Variation ID SNP ID
1PKLRp.Gly37GluVAR_011435rs118204087

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

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

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

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

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Sources for Adenosine Triphosphate, Elevated, of Erythrocytes

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet