PKHYP
MCID: ADN039
MIFTS: 17

Adenosine Triphosphate, Elevated, of Erythrocytes (PKHYP) 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 52 12 68
Elevated Adenosine Triphosphate of Erythrocytes 24 27
Pyruvate Kinase Hyperactivity 24 70
 
High Red Cell Atp Syndrome 70
Pkhyp 70

Characteristics:

HPO:

64
adenosine triphosphate, elevated, of erythrocytes:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM52 102900
MedGen37 C1863224

Summaries for Adenosine Triphosphate, Elevated, of Erythrocytes

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UniProtKB/Swiss-Prot:70 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).

Description from OMIM:52 102900

Related Diseases for Adenosine Triphosphate, Elevated, of Erythrocytes

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Symptoms & Phenotypes for Adenosine Triphosphate, Elevated, of Erythrocytes

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Symptoms by clinical synopsis from OMIM:

102900

Clinical features from OMIM:

102900

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

 64
id Description HPO Frequency HPO Source Accession
1 polycythemia64 HP:0001901
2 reduced erythrocyte 2,3-diphosphoglycerate concentration64 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
Adenosineapproved, investigational41958-61-760961
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
2Pharmaceutical Solutions8192

Interventional clinical trials:

idNameStatusNCT IDPhase
1Testing Mitochondria Activity and Blood Lipid Content of Multiple Sclerosis PatientsUnknown statusNCT01918501
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 Erythrocytes27
2 Elevated Adenosine Triphosphate of Erythrocytes24 PKLR

Anatomical Context for Adenosine Triphosphate, Elevated, of Erythrocytes

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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:

70
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)SNVPathogenicrs118204087GRCh37Chr 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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet