MCID: GLY011
MIFTS: 31

Glycogen Storage Disease Vii malady

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

Aliases & Classifications for Glycogen Storage Disease Vii

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Sources:
45OMIM, 9Disease Ontology, 10diseasecard, 41NIH Rare Diseases, 21Genetics Home Reference, 60UMLS, 20GeneTests, 47Orphanet, 22GTR, 43Novoseek, 55SNOMED-CT, 33MeSH, 26ICD10 via Orphanet, 61UMLS via Orphanet
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Glycogen Storage Disease Vii, Aliases & Descriptions:

Name: Glycogen Storage Disease Vii 45 9 10
Glycogen Storage Disease Type 7 41 20 47 22
Muscle Phosphofructokinase Deficiency 9 41 21
Glycogen Storage Disease Type Vii 9 21 60
Tarui Disease 41 21 47
Glycogen Storage Disease Due to Muscle Phosphofructokinase Deficiency 41 47
Glycogenosis Due to Muscle Phosphofructokinase Deficiency 41 47
Gsd Due to Muscle Phosphofructokinase Deficiency 41 47
Phosphofructokinase Deficiency 21 43
 
Glycogenosis Type 7 41 47
Pfkm Deficiency 41 21
Gsd Type 7 41 47
Gsd7 41 21
Glycogen Storage Disease, Type Vii 9
Phosphofructokinase, Muscle Type 10
Phosphofructokinase Myopathy 9
Glycogenosis 7 21
Gsd Vii 21


Classifications:



Characteristics (Orphanet epidemiological data):

47
glycogen storage disease type 7:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood


External Ids:

OMIM45 232800
Disease Ontology9 DOID:11721
MeSH33 D006014
SNOMED-CT55 89597008, 234406005
Orphanet47 371
ICD10 via Orphanet26 E74.0
UMLS via Orphanet61 C0017926

Summaries for Glycogen Storage Disease Vii

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OMIM:45 Glycogen storage disease VII is an autosomal recessive metabolic disorder characterized clinically by exercise... (232800) more...

MalaCards based summary: Glycogen Storage Disease Vii, also known as glycogen storage disease type 7, is related to hemolytic anemia and myopathy, and has symptoms including anemia, myotonia and hyperuricemia. An important gene associated with Glycogen Storage Disease Vii is PFKM (phosphofructokinase, muscle).

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.

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

Related Diseases for Glycogen Storage Disease Vii

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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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Symptoms by clinical synopsis from OMIM:

232800

Clinical features from OMIM:

232800

Symptoms:

 47
  • myotonia
  • anaemia
  • metabolic anomalies
  • autosomal recessive inheritance
  • muscle hypotrophy/atrophy/dystrophy/agenesis/amyotrophy
  • hyperuricemia

HPO human phenotypes related to Glycogen Storage Disease Vii:

(show all 18)
id Description Frequency HPO Source Accession
1 anemia hallmark (90%) HP:0001903
2 myotonia hallmark (90%) HP:0002486
3 hyperuricemia typical (50%) HP:0002149
4 amyotrophy typical (50%) HP:0003202
5 autosomal recessive inheritance HP:0000007
6 jaundice HP:0000952
7 cholelithiasis HP:0001081
8 muscle weakness HP:0001324
9 hemolytic anemia HP:0001878
10 reticulocytosis HP:0001923
11 gout HP:0001997
12 hyperuricemia HP:0002149
13 exercise intolerance HP:0003546
14 increased total bilirubin HP:0003573
15 exercise-induced muscle cramps HP:0003710
16 variable expressivity HP:0003828
17 exercise-induced myoglobinuria HP:0008305
18 increased muscle glycogen content HP:0009051

Drugs & Therapeutics for Glycogen Storage Disease Vii

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Drug clinical trials:

Search ClinicalTrials for Glycogen Storage Disease Vii

Search NIH Clinical Center for Glycogen Storage Disease Vii

Genetic Tests for Glycogen Storage Disease Vii

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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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Variations for Glycogen Storage Disease Vii

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UniProtKB/Swiss-Prot genetic disease variations for Glycogen Storage Disease Vii:

62 (show all 11)
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
8PFKMp.Gly57ValVAR_072239
9PFKMp.Ser180CysVAR_072240
10PFKMp.Asp309GlyVAR_072241
11PFKMp.Asp591AlaVAR_072242

Clinvar genetic disease variations for Glycogen Storage Disease Vii:

6
id Gene Variation 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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Search GEO for disease gene expression data for Glycogen Storage Disease Vii.

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
  • Proteins
  • Kits and Assays

Sources for Glycogen Storage Disease Vii

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet