GSD7
MCID: GLY011
MIFTS: 33

Glycogen Storage Disease Vii (GSD7) malady

Neuronal, Metabolic, Blood categories

Summaries for Glycogen Storage Disease Vii

Sources:
64Wikipedia, 47OMIM, 33MalaCards
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Wikipedia:64 Phosphofructokinase deficiency, also known as Glycogen storage disease type VII or Tarui\'s disease, is... more...

MalaCards: Glycogen Storage Disease Vii, also known as glycogen storage disease type 7, is related to gout and hyperuricemia, and has symptoms including autosomal recessive inheritance, metabolic anomalies and muscle hypotrophy/atrophy/dystrophy/agenesis/amyotrophy. An important gene associated with Glycogen Storage Disease Vii is PFKM (phosphofructokinase, muscle), and among its related pathways are AMPK Enzyme Complex Pathway and MPS IIIC - Sanfilippo syndrome C. The compounds magnesium and inosine triphosphate have been mentioned in the context of this disorder.

Description from OMIM:47 232800

Aliases & Classifications for Glycogen Storage Disease Vii

Sources:
8Disease Ontology, 9diseasecard, 47OMIM, 43NIH Rare Diseases, 61UMLS, 20GeneTests, 22GTR, 49Orphanet, 35MeSH, 57SNOMED-CT, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal, Metabolic, Blood


Characteristics (Orphanet epidemiological data):

49
glycogen storage disease type 7:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Childhood


Aliases & Descriptions:

glycogen storage disease vii 8 9 47
glycogen storage disease type 7 43 20 22 49
muscle phosphofructokinase deficiency 8 43
glycogen storage disease type vii 8 61
tarui disease 43 49
glycogen storage disease due to muscle phosphofructokinase deficiency 49
glycogenosis due to muscle phosphofructokinase deficiency 49
gsd due to muscle phosphofructokinase deficiency 49
glycogen storage disease, type vii 8
phosphofructokinase, muscle type 9
phosphofructokinase myopathy 8
glycogenosis type 7 49
pfkm deficiency 43
gsd type 7 49
gsd7 43


External Ids:

Disease Ontology8 DOID:11721
OMIM47 232800
MeSH35 D006014
SNOMED-CT57 89597008, 234406005
ICD10 via Orphanet26 E74.0
SNOMED-CT via Orphanet58 234406005

Related Diseases for Glycogen Storage Disease Vii

Sources:
17GeneCards, 18GeneDecks
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Graphical network of diseases related to Glycogen Storage Disease Vii:



Diseases related to glycogen storage disease vii

Clinical Features for Glycogen Storage Disease Vii

Sources:
47OMIM, 49Orphanet
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Clinical features from OMIM:

232800

Clinical synopsis from OMIM:

232800

Symptoms:

49 (show all 6)
  • autosomal recessive inheritance
  • metabolic anomalies
  • muscle hypotrophy/atrophy/dystrophy/agenesis/amyotrophy
  • myotonia
  • anaemia
  • hyperuricemia

Drugs & Therapeutics for Glycogen Storage Disease Vii

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Glycogen Storage Disease Vii

Drug clinical trials:

Search ClinicalTrials for Glycogen Storage Disease Vii

Search NIH Clinical Center for Glycogen Storage Disease Vii

Search CenterWatch for Glycogen Storage Disease Vii

Genetic Tests for Glycogen Storage Disease Vii

Sources:
20GeneTests, 22GTR
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Genetic tests related to Glycogen Storage Disease Vii:

id Genetic test Affiliating Genes
1 Glycogen Storage Disease Type Vii20 PFKM
2 Glycogen Storage Disease, Type Vii22

Anatomical Context for Glycogen Storage Disease Vii

Animal Models for Glycogen Storage Disease Vii or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Glycogen Storage Disease Vii

Genetic Variations for Glycogen Storage Disease Vii

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Glycogen Storage Disease Vii:

63
id Symbol AA change Variation SNP ID
1PFKMp.Arg39LeuVAR_006063
2PFKMp.Arg39ProVAR_006064
3PFKMp.Arg100GlnVAR_006065rs2228500
4PFKMp.Gly209AspVAR_006066
5PFKMp.Asp543AlaVAR_006067
6PFKMp.Trp686CysVAR_006068
7PFKMp.Arg696HisVAR_006069rs41291971

Expression for genes affiliated with Glycogen Storage Disease Vii

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Glycogen Storage Disease Vii

Search GEO for disease gene expression data for Glycogen Storage Disease Vii.

Pathways for genes affiliated with Glycogen Storage Disease Vii

Sources:
52QIAGEN, 54Reactome, 30KEGG, 12EMD Millipore, 38NCBI BioSystems Database
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Compounds for genes affiliated with Glycogen Storage Disease Vii

Sources:
45Novoseek, 11DrugBank, 24HMDB
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Compounds related to Glycogen Storage Disease Vii according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1magnesium45 11 2411.1PFKM, PFKP
2inosine triphosphate45 249.8PFKM, PFKP

GO Terms for genes affiliated with Glycogen Storage Disease Vii

Sources:
16Gene Ontology
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Cellular components related to Glycogen Storage Disease Vii according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
16-phosphofructokinase complexGO:0059459.1PFKM, PFKP

Biological processes related to Glycogen Storage Disease Vii according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1fructose 6-phosphate metabolic processGO:0060029.1PFKM, PFKP
2carbohydrate metabolic processGO:0059759.1PFKM, PFKP
3glycolysisGO:0060969.0PFKM, PFKP
4glucose metabolic processGO:0060068.8PFKM, PFKP

Molecular functions related to Glycogen Storage Disease Vii according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
16-phosphofructokinase activityGO:0038729.1PFKM, PFKP

Products for genes affiliated with Glycogen Storage Disease Vii

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Glycogen Storage Disease Vii

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet