GSD7
MCID: GLY011
MIFTS: 35

Glycogen Storage Disease Vii (GSD7) malady

Genetic diseases, Rare diseases, Neuronal diseases, Metabolic diseases, Blood diseases, Liver diseases, Cardiovascular diseases, Muscle diseases, Nephrological diseases categories
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Summaries for Glycogen Storage Disease Vii

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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 based summary: Glycogen Storage Disease Vii, also known as muscle phosphofructokinase deficiency, is related to hemolytic anemia and myopathy, and has symptoms including myotonia, anaemia and metabolic anomalies. An important gene associated with Glycogen Storage Disease Vii is PFKM (phosphofructokinase, muscle).

Wikipedia:65 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, 21Genetics Home Reference, 46OMIM, 44Novoseek, 48Orphanet, 62UMLS, 57SNOMED-CT, 34MeSH, 26ICD10 via Orphanet, 63UMLS via Orphanet
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Glycogen Storage Disease Vii, Aliases & Descriptions:

Name: Glycogen Storage Disease Vii 8 9 46
Muscle Phosphofructokinase Deficiency 8 42 21 62
Glycogen Storage Disease Type 7 42 20 22 48
Glycogen Storage Disease Type Vii 8 21 62
Tarui Disease 42 21 48
Phosphofructokinase Deficiency 21 44
Pfkm Deficiency 42 21
Glycogenosis 7 21 62
Gsd7 42 21
 
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
Gsd Type 7 48
Gsd Vii 21


Classifications:



Characteristics (Orphanet epidemiological data):

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


External Ids:

Disease Ontology8 DOID:11721
OMIM46 232800
MeSH34 D006014
SNOMED-CT57 89597008, 234406005
ICD10 via Orphanet26 E74.0
UMLS via Orphanet63 C0017926

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:

48
  • 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:

64
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:

6
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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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

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet