GSD7
MCID: GLY011
MIFTS: 34

Glycogen Storage Disease Vii (GSD7) malady

Genetic diseases, Rare diseases, Neuronal diseases, Blood diseases, Liver diseases, Cardiovascular diseases, Endocrine diseases, Muscle diseases, Nephrological diseases categories

Summaries for Glycogen Storage Disease Vii

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22Genetics Home Reference, 66Wikipedia, 48OMIM, 34MalaCards
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Genetics Home Reference:22 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 hemolytic anemia and myopathy, 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).

Wikipedia:66 Phosphofructokinase deficiency, also known as Glycogen storage disease type VII or Tarui\'s disease, is... more...

Description from OMIM:48 232800

Aliases & Classifications for Glycogen Storage Disease Vii

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9Disease Ontology, 10diseasecard, 44NIH Rare Diseases, 21GeneTests, 23GTR, 22Genetics Home Reference, 48OMIM, 46Novoseek, 50Orphanet, 63UMLS, 59SNOMED-CT, 36MeSH, 60SNOMED-CT via Orphanet, 27ICD10 via Orphanet, 64UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

50
glycogen storage disease type 7:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Childhood


Aliases & Descriptions:

glycogen storage disease vii 9 10 48
glycogen storage disease type 7 44 21 23 50
muscle phosphofructokinase deficiency 9 44 22
glycogen storage disease type vii 9 22 63
tarui disease 44 22 50
phosphofructokinase deficiency 22 46
pfkm deficiency 44 22
gsd7 44 22
glycogen storage disease due to muscle phosphofructokinase deficiency 50
glycogenosis due to muscle phosphofructokinase deficiency 50
gsd due to muscle phosphofructokinase deficiency 50
glycogen storage disease, type vii 9
phosphofructokinase, muscle type 10
phosphofructokinase myopathy 9
glycogenosis type 7 50
glycogenosis 7 22
gsd type 7 50
gsd vii 22


External Ids:

Disease Ontology9 DOID:11721
OMIM48 232800
MeSH36 D006014
SNOMED-CT59 234406005, 89597008
SNOMED-CT via Orphanet60 89597008, 234406005
ICD10 via Orphanet27 E74.0
UMLS via Orphanet64 C0017926

Related Diseases for Glycogen Storage Disease Vii

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18GeneCards, 19GeneDecks
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Graphical network of diseases related to Glycogen Storage Disease Vii:



Diseases related to glycogen storage disease vii

Symptoms for Glycogen Storage Disease Vii

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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

232800

Clinical features from OMIM:

232800

Symptoms:

50
  • 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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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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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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21GeneTests, 23GTR
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Genetic tests related to Glycogen Storage Disease Vii:

id Genetic test Affiliating Genes
1 Glycogen Storage Disease Type Vii21 PFKM
2 Glycogen Storage Disease, Type Vii23

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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Variations for Glycogen Storage Disease Vii

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Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Glycogen Storage Disease Vii:

65
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

Clinvar genetic disease variations for Glycogen Storage Disease Vii:

1
id Gene Name Type Significance SNP ID Assembly Location
1PFKMPFKM, IVS15DS, G-T, +1single nucleotide variantPathogenic
2PFKMPFKM, IVS6AS, A-C, -2single nucleotide variantPathogenic
3PFKMNM_001166686.1(PFKM): c.329G> C (p.Arg110Pro)single nucleotide variantPathogenicrs121918193GRCh37Chr 12, 48524176: 48524176
4PFKMNM_001166686.1(PFKM): c.1841A> C (p.Asp614Ala)single nucleotide variantPathogenicrs121918194GRCh37Chr 12, 48535824: 48535824
5PFKMPFKM, IVS5DS, G-A, +1single nucleotide variantPathogenic
6PFKMNM_001166686.1(PFKM): c.329G> T (p.Arg110Leu)single nucleotide variantPathogenicrs121918193GRCh37Chr 12, 48524176: 48524176
7PFKMNM_001166686.1(PFKM): c.496C> T (p.Arg166Ter)single nucleotide variantPathogenicrs121918195GRCh37Chr 12, 48526696: 48526696
8PFKMNM_001166686.1(PFKM): c.2271G> T (p.Trp757Cys)single nucleotide variantPathogenicrs121918196GRCh37Chr 12, 48538879: 48538879
9PFKMPFKM, 1-BP DEL, 2003CdeletionPathogenic

Expression for genes affiliated with Glycogen Storage Disease Vii

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2BioGPS, 16Gene 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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Compounds for genes affiliated with Glycogen Storage Disease Vii

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GO Terms for genes affiliated with Glycogen Storage Disease Vii

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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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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet