GSD7
MCID: GLY011
MIFTS: 41

Glycogen Storage Disease Vii (GSD7) malady

Neuronal diseases, Metabolic diseases, Blood diseases categories

Summaries for Glycogen Storage Disease Vii

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Sources:
21Genetics Home Reference, 63Wikipedia, 46OMIM, 32MalaCards
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Genetics Home Reference:21 Glycogen storage disease type VII (GSDVII) is an inherited disorder caused by an inability to break down a complex sugar called glycogen in muscle cells. A lack of glycogen breakdown interferes with the function of muscle cells.

MalaCards: Glycogen Storage Disease Vii, also known as glycogen storage disease type 7, is related to glycogen storage disease 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.

Wikipedia:63 Phosphofructokinase deficiency, also known as Glycogen storage disease type VII or Tarui\'s disease, is... more...

Description from OMIM:46 232800

Aliases & Classifications for Glycogen Storage Disease Vii

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Sources:
8Disease Ontology, 9diseasecard, 42NIH Rare Diseases, 20GeneTests, 22GTR, 46OMIM, 48Orphanet, 60UMLS, 34MeSH, 56SNOMED-CT, 57SNOMED-CT via Orphanet, 26ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

48
glycogen storage disease type 7:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Childhood


Aliases & Descriptions:

glycogen storage disease vii 8 9 46
glycogen storage disease type 7 42 20 22 48
muscle phosphofructokinase deficiency 8 42
glycogen storage disease type vii 8 60
tarui disease 42 48
glycogen storage disease due to muscle phosphofructokinase deficiency 48
glycogenosis due to muscle phosphofructokinase deficiency 48
gsd due to muscle phosphofructokinase deficiency 48
glycogen storage disease, type vii 8
phosphofructokinase, muscle type 9
phosphofructokinase myopathy 8
glycogenosis type 7 48
pfkm deficiency 42
gsd type 7 48
gsd7 42


External Ids:

Disease Ontology8 DOID:11721
OMIM46 232800
MeSH34 D006014
SNOMED-CT56 89597008, 234406005
SNOMED-CT via Orphanet57 89597008, 234406005
ICD10 via Orphanet26 E74.0

Related Diseases for Glycogen Storage Disease Vii

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Sources:
17GeneCards, 18GeneDecks
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Clinical Features for Glycogen Storage Disease Vii

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Sources:
46OMIM, 48Orphanet
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Clinical features from OMIM:

232800

Clinical synopsis from OMIM:

232800

Symptoms:

48
  • autosomal recessive inheritance
  • metabolic anomalies
  • muscle hypotrophy/atrophy/dystrophy/agenesis/amyotrophy
  • myotonia
  • anaemia
  • hyperuricemia

Drugs & Therapeutics for Glycogen Storage Disease Vii

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Glycogen Storage Disease Vii

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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

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Animal Models for Glycogen Storage Disease Vii or affiliated genes

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Publications for Glycogen Storage Disease Vii

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50PubMed
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Articles related to Glycogen Storage Disease Vii:

idTitleAuthorsYear
1
Glycogenosis type VII (glycogen storage disease type VII, human muscle-phosphofructokinase deficiency, Tarui's disease)]. (11596390)
2001

Genetic Variations for Glycogen Storage Disease Vii

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Glycogen Storage Disease Vii:

62
id Symbol AA change Variation ID 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

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

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Pathways for genes affiliated with Glycogen Storage Disease Vii

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Sources:
51QIAGEN, 53Reactome, 29KEGG, 12EMD Millipore, 37NCBI BioSystems Database
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Compounds for genes affiliated with Glycogen Storage Disease Vii

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Sources:
44Novoseek, 11DrugBank, 24HMDB
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Compounds related to Glycogen Storage Disease Vii according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1magnesium44 11 2411.1PFKM, PFKP
2inosine triphosphate44 249.8PFKM, PFKP

GO Terms for genes affiliated with Glycogen Storage Disease Vii

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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

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Glycogen Storage Disease Vii

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet