GSD7
MCID: GLY011
MIFTS: 55

Glycogen Storage Disease Vii (GSD7)

Categories: Blood diseases, Cardiovascular diseases, Genetic diseases, Liver diseases, Metabolic diseases, Muscle diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Glycogen Storage Disease Vii

MalaCards integrated aliases for Glycogen Storage Disease Vii:

Name: Glycogen Storage Disease Vii 56 12 73 13 15
Glycogen Storage Disease Type Vii 12 74 25 58 36 43 71
Muscle Phosphofructokinase Deficiency 56 12 52 25 73
Tarui Disease 56 52 25 58 73
Pfkm Deficiency 56 52 25 73
Gsd7 56 52 25 73
Glycogen Storage Disease, Type Vii 12 29 6
Glycogen Storage Disease Type 7 74 52 58
Gsd Vii 56 25 73
Phosphofructokinase Deficiency 25 54
Glycogen Storage Disease Due to Muscle Phosphofructokinase Deficiency 58
Glycogenosis Due to Muscle Phosphofructokinase Deficiency 58
Gsd Due to Muscle Phosphofructokinase Deficiency 58
Storage Disease, Glycogen, Type Vii 39
Phosphofructokinase Myopathy 12
Glycogen Storage Disease 7 73
Glycogenosis Type Vii 58
Glycogenosis Type 7 58
Glycogenosis 7 25
Gsd Type Vii 58
Gsd Type 7 58
Gsd-Vii 73

Characteristics:

Orphanet epidemiological data:

58
glycogen storage disease due to muscle phosphofructokinase deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
variable severity
exercise intolerance often evident in childhood
late-adult onset has been reported
a severe infantile variant has been rarely reported


HPO:

31
glycogen storage disease vii:
Inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity


Classifications:

Orphanet: 58  
Rare neurological diseases
Inborn errors of metabolism
Rare haematological diseases


External Ids:

Disease Ontology 12 DOID:11721
OMIM 56 232800
KEGG 36 H01945
MeSH 43 D006014
NCIt 49 C118437
SNOMED-CT 67 89597008
ICD10 32 E74.09
ICD10 via Orphanet 33 E74.0
UMLS via Orphanet 72 C0017926
Orphanet 58 ORPHA371
MedGen 41 C0017926
UMLS 71 C0017926

Summaries for Glycogen Storage Disease Vii

Genetics Home Reference : 25 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. There are four types of GSDVII. They are differentiated by their signs and symptoms and the age at which symptoms first appear. The classical form of GSDVII is the most common form. Its features usually appear in childhood. This form is characterized by muscle pain and cramps, often following moderate exercise; strenuous exercise can lead to nausea and vomiting. During exercise, muscle tissue can be abnormally broken down, releasing a protein called myoglobin. This protein is processed by the kidneys and released in the urine (myoglobinuria). If untreated, myoglobinuria can damage the kidneys and lead to kidney failure. Some people with the classical form of GSDVII develop high levels of a waste product called uric acid in the blood (hyperuricemia) because the damaged kidneys are unable to remove uric acid effectively. Affected individuals may also have elevated levels of a molecule called bilirubin in the blood that can cause yellowing of the skin and whites of the eyes (jaundice). Individuals with classical GSDVII often have elevated levels of an enzyme called creatine kinase in their blood. This finding is a common indicator of muscle disease. Infants with the severe infantile form of GSDVII have low muscle tone (hypotonia) at birth, which leads to muscle weakness (myopathy) that worsens over time. Affected infants have a weakened and enlarged heart (cardiomyopathy) and difficulty breathing normally. Individuals with this form of GSDVII usually do not survive past their first year of life. In the late-onset form of GSDVII, myopathy is typically the only feature. The muscle weakness appears in adulthood, although some individuals have difficulty with sustained exercise starting in childhood. The weakness generally affects the muscles closest to the center of the body (proximal muscles). The hemolytic form of GSDVII is characterized by hemolytic anemia, in which red blood cells are broken down (undergo hemolysis) prematurely, causing a shortage of red blood cells (anemia). People with the hemolytic form of GSDVII do not experience any signs or symptoms of muscle pain or weakness related to the disorder.

MalaCards based summary : Glycogen Storage Disease Vii, also known as glycogen storage disease type vii, is related to myoglobinuria and metabolic myopathy, and has symptoms including muscle weakness An important gene associated with Glycogen Storage Disease Vii is PFKM (Phosphofructokinase, Muscle), and among its related pathways/superpathways are Glycolysis / Gluconeogenesis and Metabolism. The drug Pharmaceutical Solutions has been mentioned in the context of this disorder. Affiliated tissues include eye, heart and kidney, and related phenotypes are anemia and myotonia

NIH Rare Diseases : 52 Glycogen storage disease type 7 (GSD7) is an inherited condition in which the body is unable to break down glycogen (a complex sugar) in the muscle cells . Because glycogen is an important source of energy, this can interfere with the normal functioning of muscle cells. The severity of the condition and the associated signs and symptoms vary, but may include muscle weakness and stiffness; painful muscle cramps; nausea and vomiting; and/or myoglobinuria (the presence of myoglobin in the urine) following moderate to strenuous exercise. Symptoms typically resolve with rest. GSD7 is most commonly diagnosed during childhood; however, some affected people may rarely develop symptoms during infancy or later in adulthood. Those who develop the condition during infancy may experience additional symptoms such as hypotonia (poor muscle tone), cardiomyopathy and breathing difficulties that often lead to a shortened lifespan (less than 1 year). This condition is caused by changes (mutations ) in the PFKM gene and is inherited in an autosomal recessive manner. There is no specific treatment for GSD7; however, affected people are generally advised to avoid vigorous exercise and high-carbohydrate meals.

OMIM : 56 Glycogen storage disease VII is an autosomal recessive metabolic disorder characterized clinically by exercise intolerance, muscle cramping, exertional myopathy, and compensated hemolysis. Myoglobinuria may also occur. The deficiency of the muscle isoform of PFK results in a total and partial loss of muscle and red cell PFK activity, respectively. Raben and Sherman (1995) noted that not all patients with GSD VII seek medical care because in some cases it is a relatively mild disorder. (232800)

KEGG : 36 Glycogen storage disease type VII (GSD-VII), also known as Tarui disease, is an autosomal recessive disorder of glycogen metabolism. GSD-VII is caused by mutations in the PFKM gene, which encodes muscle phosphofructokinase. It is characterized by exercise-induced muscle symptoms such as premature fatigue, painful cramps, and myoglobinuria. Additional symptoms include hemolysis and myogenic hyperuricemia.

UniProtKB/Swiss-Prot : 73 Glycogen storage disease 7: A metabolic disorder characterized by exercise intolerance with associated nausea and vomiting, muscle cramping, exertional myopathy and compensated hemolysis. Short bursts of intense activity are particularly difficult. Severe muscle cramps and myoglobinuria develop after vigorous exercise.

Wikipedia : 74 Phosphofructokinase deficiency, is a rare muscular metabolic disorder, with an autosomal recessive... more...

Related Diseases for Glycogen Storage Disease Vii

Diseases in the Glycogen Storage Disease family:

Glycogen Storage Disease Ia Glycogen Storage Disease Ib
Glycogen Storage Disease Ic Glycogen Storage Disease Ii
Glycogen Storage Disease Iii Glycogen Storage Disease Iv
Glycogen Storage Disease V Glycogen Storage Disease Vi
Glycogen Storage Disease Vii Glycogen Storage Disease X
Glycogen Storage Disease Ixb Glycogen Storage Disease, Type Ixd
Glycogen Storage Disease Xii Glycogen Storage Disease Xiii
Glycogen Storage Disease Ixc Glycogen Storage Disease Xv
Glycogen Storage Disease Ix Glycogen Storage Disease Ixa
Glycogen Storage Disease Viii Glycogen Storage Disease Type 0

Diseases related to Glycogen Storage Disease Vii via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 65)
# Related Disease Score Top Affiliating Genes
1 myoglobinuria 30.0 PYGM PGAM2 PFKM AMPD3 AMPD1
2 metabolic myopathy 29.8 PGAM2 ENO3 AMPD1
3 glycogen storage disease 28.9 PYGM PGAM2 PFKP PFKM PFKL GBE1
4 myopathy 28.7 PYGM PGAM2 PFKM GBE1 ENO3 AMPD3
5 glycogen storage disease v 28.7 PYGM PGAM2 PFKM MYOZ3 AMPD3 AMPD1
6 glycogen storage disease x 11.3
7 hyperuricemia 10.4
8 hypotonia 10.2
9 hemoglobinuria 10.1
10 myopathy due to myoadenylate deaminase deficiency 10.1 AMPD3 AMPD1
11 alkuraya-kucinskas syndrome 10.1
12 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis 10.1
13 respiratory failure 10.1
14 gout 10.1
15 hemolytic anemia 10.1
16 congenital amyoplasia 10.1
17 gilbert syndrome 10.1
18 hyperinsulinism 10.1
19 hyperglycemia 10.1
20 muscular glycogenosis 10.1
21 congenital nonspherocytic hemolytic anemia 10.1
22 inherited metabolic disorder 10.1
23 muscular atrophy 10.1
24 posttransplant acute limbic encephalitis 10.1
25 mitral valve insufficiency 10.0
26 facial paralysis 10.0
27 cleft palate, isolated 10.0
28 strabismus 10.0
29 myopathy, congenital 10.0
30 yemenite deaf-blind hypopigmentation syndrome 10.0
31 autosomal recessive disease 10.0
32 gastric ulcer 10.0
33 cortical blindness 10.0
34 visual epilepsy 10.0
35 hypertrophic cardiomyopathy 10.0
36 neuroaxonal dystrophy 10.0
37 bilirubin metabolic disorder 10.0
38 acute kidney failure 10.0
39 neuromuscular disease 10.0
40 mechanical strabismus 10.0
41 encephalopathy 10.0
42 floppy infant syndrome 10.0
43 seizure disorder 10.0
44 isolated elevated serum creatine phosphokinase levels 10.0 PYGM PGAM2 AMPD1
45 rheumatoid arthritis 9.9
46 pyruvate kinase deficiency of red cells 9.9
47 phosphoglycerate kinase 1 deficiency 9.9
48 anemia, x-linked, with or without neutropenia and/or platelet abnormalities 9.9
49 gallbladder disease 1 9.9
50 muscular dystrophy, congenital, lmna-related 9.9

Graphical network of the top 20 diseases related to Glycogen Storage Disease Vii:



Diseases related to Glycogen Storage Disease Vii

Symptoms & Phenotypes for Glycogen Storage Disease Vii

Human phenotypes related to Glycogen Storage Disease Vii:

58 31 (show all 16)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 anemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001903
2 myotonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002486
3 increased muscle glycogen content 58 31 hallmark (90%) Very frequent (99-80%) HP:0009051
4 muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0001324
5 hyperuricemia 58 31 frequent (33%) Frequent (79-30%) HP:0002149
6 skeletal muscle atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0003202
7 cholelithiasis 31 HP:0001081
8 jaundice 31 HP:0000952
9 hemolytic anemia 31 HP:0001878
10 gout 31 HP:0001997
11 reticulocytosis 31 HP:0001923
12 increased total bilirubin 31 HP:0003573
13 exercise intolerance 31 HP:0003546
14 exercise-induced myoglobinuria 31 HP:0008305
15 exercise-induced muscle cramps 31 HP:0003710
16 reduced erythrocyte 2,3-diphosphoglycerate concentration 31 HP:0030271

Symptoms via clinical synopsis from OMIM:

56
Muscle Soft Tissue:
muscle weakness
increased muscle glycogen content
exercise intolerance
muscle cramps with exertion
muscle fibers may contain abnormal polysaccharide

Hematology:
hemolytic anemia

Skin Nails Hair Skin:
jaundice due to hemolytic anemia

Laboratory Abnormalities:
hyperuricemia
increased reticulocyte count
muscle phosphofructokinase deficiency
myoglobinuria with extreme exertion
increased bilirubin
more
Abdomen Liver:
gallstones due to hemolytic anemia
jaundice due to hemolytic anemia

Skeletal Feet:
gout due to increased uric acid

Clinical features from OMIM:

232800

UMLS symptoms related to Glycogen Storage Disease Vii:


muscle weakness

GenomeRNAi Phenotypes related to Glycogen Storage Disease Vii according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased cell proliferation GR00353-A 8.8 PFKL PFKM PFKP

Drugs & Therapeutics for Glycogen Storage Disease Vii

Drugs for Glycogen Storage Disease Vii (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Pharmaceutical Solutions

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Triheptanoin's Effect on Fatty Acid Oxidation and Exercise Tolerance in Patients With Debrancher Deficiency, Glycogenin-1 Deficiency and Phosphofructoinase Deficiency at Rest and During Exercise. A Randomized, Double-blind, Placebo-controlled, Cross-over Study Recruiting NCT03642860 Phase 2 Triheptanoin;Placebo Oil
2 Genetic and Family Studies of Inherited Muscle Diseases Completed NCT00001331
3 Biomarker for Glycogen Storage Diseases - AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL Active, not recruiting NCT02385162
4 Fat and Sugar Metabolism During Exercise in Patients With Metabolic Myopathy Active, not recruiting NCT02635269

Search NIH Clinical Center for Glycogen Storage Disease Vii

Cochrane evidence based reviews: glycogen storage disease type vii

Genetic Tests for Glycogen Storage Disease Vii

Genetic tests related to Glycogen Storage Disease Vii:

# Genetic test Affiliating Genes
1 Glycogen Storage Disease, Type Vii 29 PFKM

Anatomical Context for Glycogen Storage Disease Vii

MalaCards organs/tissues related to Glycogen Storage Disease Vii:

40
Eye, Heart, Kidney, Skin, Skeletal Muscle, Testes, Brain

Publications for Glycogen Storage Disease Vii

Articles related to Glycogen Storage Disease Vii:

(show top 50) (show all 82)
# Title Authors PMID Year
1
Muscle phosphofructokinase deficiency in two generations. 54 56 6
8880699 1996
2
A new variant case of muscle phosphofructokinase deficiency, coexisting with gastric ulcer, gouty arthritis, and increased hemolysis. 54 6 56
7603526 1995
3
Identification of three novel mutations in non-Ashkenazi Italian patients with muscle phosphofructokinase deficiency. 6 54 56
7513946 1994
4
Genetic defect in muscle phosphofructokinase deficiency. Abnormal splicing of the muscle phosphofructokinase gene due to a point mutation at the 5'-splice site. 54 6 56
2140573 1990
5
Deficiency of phosphofructo-1-kinase/muscle subtype in humans impairs insulin secretion and causes insulin resistance. 6 56
9389749 1997
6
Novel missense mutation (W686C) of the phosphofructokinase-M gene in a Japanese patient with a mild form of glycogenosis VII. 6 56
8889589 1996
7
Common mutations in the phosphofructokinase-M gene in Ashkenazi Jewish patients with glycogenesis VII--and their population frequency. 56 6
8037209 1994
8
A 5' splice junction mutation leading to exon deletion in an Ashkenazic Jewish family with phosphofructokinase deficiency (Tarui disease). 56 6
8444874 1993
9
Structure of the entire human muscle phosphofructokinase-encoding gene: a two-promoter system. 6 56
1833270 1991
10
PHOSPHOFRUCTOKINASE DEFICIENCY IN SKELETAL MUSCLE. A NEW TYPE OF GLYCOGENOSIS. 6 56
14339001 1965
11
Nonsense mutation in the phosphofructokinase muscle subunit gene associated with retention of intron 10 in one of the isolated transcripts in Ashkenazi Jewish patients with Tarui disease. 54 6
7479776 1995
12
Glucose-induced exertional fatigue in muscle phosphofructokinase deficiency. 56 54
1824792 1991
13
Characterization of the enzymatic defect in late-onset muscle phosphofructokinase deficiency. New subtype of glycogen storage disease type VII. 61 56
2960695 1987
14
Characterization of the enzymatic lesion in inherited phosphofructokinase deficiency in the dog: an animal analogue of human glycogen storage disease type VII. 61 56
2933748 1985
15
Combined defects of muscle phosphofructokinase and AMP deaminase in a child with myoglobinuria. 6
9443500 1998
16
Molecular basis of canine muscle type phosphofructokinase deficiency. 56
8702726 1996
17
Mutations in muscle phosphofructokinase gene. 56
7550225 1995
18
Late-onset muscular weakness in phosphofructokinase deficiency due to exon 5/intron 5 junction point mutation: a unique disorder or the natural course of this glycolytic disorder? 56
8208408 1994
19
Inherited phosphofructokinase deficiency in an American cocker spaniel. 56
1289336 1992
20
Fatal familial infantile glycogen storage disease: multisystem phosphofructokinase deficiency. 56
1533013 1992
21
Late-onset muscle phosphofructokinase deficiency. 56
2966901 1988
22
Myogenic hyperuricemia. A common pathophysiologic feature of glycogenosis types III, V, and VII. 56
3473284 1987
23
Fatal infantile form of muscle phosphofructokinase deficiency. 56
2945125 1986
24
Inherited phosphofructokinase deficiency in dogs with hyperventilation-induced hemolysis: increased in vitro and in vivo alkaline fragility of erythrocytes. 56
3155631 1985
25
Heterogeneity of the molecular lesions in inherited phosphofructokinase deficiency. 56
6227635 1983
26
Muscle phosphofructokinase deficiency. Biochemical and immunological studies of phosphofructokinase isozymes in muscle culture. 56
6223943 1983
27
Two cases of phosphofructokinase deficiency associated with congenital hemolytic anemia found in Japan. 56
6220601 1983
28
Phosphofructokinase (PFK) deficiency due to a catalytically inactive mutant M-type subunit. 56
6211089 1982
29
Fatal infantile glycogen storage disease: deficiency of phosphofructokinase and phosphorylase b kinase. 56
6213881 1981
30
Muscle phosphofructokinase deficiency: abnormal polysaccharide in a case of late-onset myopathy. 56
6943439 1981
31
The molecular mechanism of the inherited phosphofructokinase deficiency associated with hemolysis and myopathy. 56
6444532 1980
32
Isozymes of human phosphofructokinase: identification and subunit structural characterization of a new system. 56
6444721 1980
33
Inherited erythrocyte phosphofructokinase deficiency: molecular mechanism. 56
6451572 1980
34
[Familial congenital muscular dystrophy caused by phosphofructokinase deficiency]. 56
155429 1978
35
Hereditary hemolytic anemia with erythrocyte phosphofructokinase deficiency: studies of some properties of erythrocyte and muscle enzyme. 56
129430 1976
36
Erythrocyte phosphofructokinase deficiency associated with an unstable variant of muscle phosphofructokinase. 56
125160 1975
37
Letter: Red-cell phosphofructokinase deficiency. 56
4278172 1974
38
Hereditary nonspherocytic hemolysis with erythrocyte phosphofructokinase deficiency. 56
4258222 1972
39
A new type of phosphofructokinase deficiency hereditary nonspherocytic hemolytic anemia. 56
4264122 1972
40
Muscle phosphofructokinase deficiency. 56
4228297 1967
41
A myopathy due to glycolytic abnormality. 56
4228753 1967
42
[Glycogenosis type VII (glycogen storage disease type VII, human muscle-phosphofructokinase deficiency, Tarui's disease)]. 54 61
11596390 2001
43
Beneficial Effects of Ketogenic Diet on Phosphofructokinase Deficiency (Glycogen Storage Disease Type VII). 61
32117019 2020
44
Update on polyglucosan storage diseases. 61
31363843 2019
45
Structures of human phosphofructokinase-1 and atomic basis of cancer-associated mutations. 61
25985179 2015
46
Clinical features and new molecular findings in muscle phosphofructokinase deficiency (GSD type VII). 61
22133655 2012
47
Muscle phosphofructokinase deficiency with neonatal seizures and nonprogressive course. 54
17608317 2007
48
The contribution of Ca+ calmodulin activation of human erythrocyte AMP deaminase (isoform E) to the erythrocyte metabolic dysregulation of familial phosphofructokinase deficiency. 54
16670071 2006
49
Free Mg2+ concentration in the calf muscle of glycogen phosphorylase and phosphofructokinase deficiency patients assessed in different metabolic conditions by 31P MRS. 54
15938748 2005
50
Calcium activates erythrocyte AMP deaminase [isoform E (AMPD3)] through a protein-protein interaction between calmodulin and the N-terminal domain of the AMPD3 polypeptide. 54
15807549 2005

Variations for Glycogen Storage Disease Vii

ClinVar genetic disease variations for Glycogen Storage Disease Vii:

6 (show top 50) (show all 91) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PFKM NM_000289.6(PFKM):c.1929_1933del (p.Leu643_Tyr644insTer)deletion Pathogenic 660611 12:48537875-48537879 12:48144092-48144096
2 PFKM NM_000289.6(PFKM):c.292C>T (p.Arg98Ter)SNV Pathogenic 844552 12:48526705-48526705 12:48132922-48132922
3 PFKM NM_000289.6(PFKM):c.2003del (p.Pro668fs)deletion Pathogenic 632192 rs767095759 12:48538822-48538822 12:48145039-48145039
4 PFKM NM_000289.6(PFKM):c.1341+1G>TSNV Pathogenic 1152 12:48534655-48534655 12:48140872-48140872
5 PFKM NM_000289.6(PFKM):c.428-2A>CSNV Pathogenic 1153 12:48527096-48527096 12:48133313-48133313
6 PFKM NM_000289.6(PFKM):c.116G>C (p.Arg39Pro)SNV Pathogenic 1154 rs121918193 12:48524176-48524176 12:48130393-48130393
7 PFKM NM_000289.6(PFKM):c.1628A>C (p.Asp543Ala)SNV Pathogenic 1155 rs121918194 12:48535824-48535824 12:48142041-48142041
8 PFKM PFKM, IVS5DS, G-A, +1SNV Pathogenic 1156
9 PFKM NM_000289.6(PFKM):c.116G>T (p.Arg39Leu)SNV Pathogenic 1157 rs121918193 12:48524176-48524176 12:48130393-48130393
10 PFKM NM_000289.6(PFKM):c.2058G>T (p.Trp686Cys)SNV Pathogenic 1159 rs121918196 12:48538879-48538879 12:48145096-48145096
11 PFKM NM_000289.6(PFKM):c.237+1G>ASNV Pathogenic/Likely pathogenic 189239 rs202143236 12:48525177-48525177 12:48131394-48131394
12 PFKM NM_000289.6(PFKM):c.283C>T (p.Arg95Ter)SNV Pathogenic/Likely pathogenic 1158 rs121918195 12:48526696-48526696 12:48132913-48132913
13 PFKM NM_000289.6(PFKM):c.1413-2A>GSNV Pathogenic/Likely pathogenic 597689 rs1430517061 12:48535521-48535521 12:48141738-48141738
14 PFKM NM_000289.6(PFKM):c.1191+1G>ASNV Likely pathogenic 574183 rs746348793 12:48533696-48533696 12:48139913-48139913
15 PFKM NM_000289.6(PFKM):c.2121G>A (p.Ser707=)SNV Conflicting interpretations of pathogenicity 762978 12:48539021-48539021 12:48145238-48145238
16 PFKM NM_000289.6(PFKM):c.2087G>A (p.Arg696His)SNV Conflicting interpretations of pathogenicity 255756 rs41291971 12:48538908-48538908 12:48145125-48145125
17 PFKM NM_000289.6(PFKM):c.638+15C>ASNV Conflicting interpretations of pathogenicity 308950 rs376150217 12:48528074-48528074 12:48134291-48134291
18 PFKM NM_000289.6(PFKM):c.453G>A (p.Thr151=)SNV Conflicting interpretations of pathogenicity 308949 rs144370737 12:48527123-48527123 12:48133340-48133340
19 PFKM NM_000289.6(PFKM):c.1063-7C>TSNV Uncertain significance 308953 rs776228408 12:48533061-48533061 12:48139278-48139278
20 PFKM NM_000289.6(PFKM):c.*622G>ASNV Uncertain significance 308964 rs568063197 12:48540113-48540113 12:48146330-48146330
21 PFKM NM_000289.6(PFKM):c.360C>T (p.Gly120=)SNV Uncertain significance 308948 rs886049453 12:48526773-48526773 12:48132990-48132990
22 PFKM NM_000289.6(PFKM):c.820A>G (p.Ile274Val)SNV Uncertain significance 308951 rs142868881 12:48528798-48528798 12:48135015-48135015
23 PFKM NM_000289.6(PFKM):c.*3C>TSNV Uncertain significance 308959 rs367783282 12:48539494-48539494 12:48145711-48145711
24 PFKM NM_000289.6(PFKM):c.*489T>ASNV Uncertain significance 308962 rs886049457 12:48539980-48539980 12:48146197-48146197
25 PFKM NM_000289.6(PFKM):c.1033C>T (p.Arg345Cys)SNV Uncertain significance 308952 rs762357629 12:48531600-48531600 12:48137817-48137817
26 PFKM NM_000289.6(PFKM):c.1242C>G (p.Gly414=)SNV Uncertain significance 308954 rs886049454 12:48534555-48534555 12:48140772-48140772
27 PFKM NM_000289.6(PFKM):c.2201A>G (p.His734Arg)SNV Uncertain significance 308958 rs141570669 12:48539349-48539349 12:48145566-48145566
28 PFKM NM_000289.6(PFKM):c.*98G>ASNV Uncertain significance 308960 rs886049455 12:48539589-48539589 12:48145806-48145806
29 PFKM NM_001166686.2(PFKM):c.206-3529G>CSNV Uncertain significance 308942 rs78512814 12:48513021-48513021 12:48119238-48119238
30 PFKM NM_001166686.2(PFKM):c.206-3526G>ASNV Uncertain significance 308944 rs765876195 12:48513024-48513024 12:48119241-48119241
31 PFKM NM_000289.6(PFKM):c.1946A>G (p.Lys649Arg)SNV Uncertain significance 308956 rs199528011 12:48537894-48537894 12:48144111-48144111
32 PFKM NM_000289.6(PFKM):c.*134G>ASNV Uncertain significance 308961 rs886049456 12:48539625-48539625 12:48145842-48145842
33 PFKM NM_000289.6(PFKM):c.*503G>TSNV Uncertain significance 308963 rs747797192 12:48539994-48539994 12:48146211-48146211
34 PFKM NM_001166686.2(PFKM):c.206-3528C>TSNV Uncertain significance 308943 rs886049451 12:48513022-48513022 12:48119239-48119239
35 PFKM NM_001166686.2(PFKM):c.206-3416C>TSNV Uncertain significance 308947 rs886049452 12:48513134-48513134 12:48119351-48119351
36 PFKM NM_000289.6(PFKM):c.335A>G (p.Asn112Ser)SNV Uncertain significance 655370 12:48526748-48526748 12:48132965-48132965
37 PFKM NM_000289.6(PFKM):c.1727A>T (p.Tyr576Phe)SNV Uncertain significance 646354 12:48536638-48536638 12:48142855-48142855
38 PFKM NM_000289.6(PFKM):c.140G>A (p.Arg47His)SNV Uncertain significance 838536 12:48524200-48524200 12:48130417-48130417
39 PFKM NM_000289.6(PFKM):c.*411G>ASNV Uncertain significance 883073 12:48539902-48539902 12:48146119-48146119
40 PFKM NM_000289.6(PFKM):c.*452T>CSNV Uncertain significance 883074 12:48539943-48539943 12:48146160-48146160
41 PFKM NM_000289.6(PFKM):c.*532A>GSNV Uncertain significance 883843 12:48540023-48540023 12:48146240-48146240
42 PFKM NM_000289.6(PFKM):c.*564G>ASNV Uncertain significance 883844 12:48540055-48540055 12:48146272-48146272
43 PFKM NM_000289.6(PFKM):c.*668G>TSNV Uncertain significance 883845 12:48540159-48540159 12:48146376-48146376
44 PFKM NM_000289.6(PFKM):c.2282C>G (p.Thr761Ser)SNV Uncertain significance 665172 12:48539430-48539430 12:48145647-48145647
45 PFKM NM_000289.6(PFKM):c.935T>C (p.Leu312Pro)SNV Uncertain significance 851666 12:48529165-48529165 12:48135382-48135382
46 PFKM NM_000289.6(PFKM):c.-17G>CSNV Uncertain significance 882999 12:48513181-48513181 12:48119398-48119398
47 PFKM NM_000289.6(PFKM):c.514A>G (p.Thr172Ala)SNV Uncertain significance 883790 12:48527184-48527184 12:48133401-48133401
48 PFKM NM_000289.6(PFKM):c.722A>G (p.Glu241Gly)SNV Uncertain significance 883791 12:48528587-48528587 12:48134804-48134804
49 PFKM NM_000289.6(PFKM):c.864A>G (p.Gly288=)SNV Uncertain significance 881457 12:48529094-48529094 12:48135311-48135311
50 PFKM NM_000289.6(PFKM):c.965T>C (p.Met322Thr)SNV Uncertain significance 881458 12:48531532-48531532 12:48137749-48137749

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

73
# Symbol AA change Variation ID SNP ID
1 PFKM p.Arg39Leu VAR_006063 rs121918193
2 PFKM p.Arg39Pro VAR_006064 rs121918193
3 PFKM p.Gly209Asp VAR_006066 rs767265360
4 PFKM p.Asp543Ala VAR_006067 rs121918194
5 PFKM p.Trp686Cys VAR_006068 rs121918196
6 PFKM p.Gly57Val VAR_072239
7 PFKM p.Ser180Cys VAR_072240
8 PFKM p.Asp309Gly VAR_072241 rs116938313
9 PFKM p.Asp591Ala VAR_072242

Expression for Glycogen Storage Disease Vii

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

Pathways for Glycogen Storage Disease Vii

Pathways related to Glycogen Storage Disease Vii according to KEGG:

36
# Name Kegg Source Accession
1 Glycolysis / Gluconeogenesis hsa00010

Pathways related to Glycogen Storage Disease Vii according to GeneCards Suite gene sharing:

(show all 15)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.87 PYGM PGAM2 PFKP PFKM PFKL GBE1
2
Show member pathways
12.51 PYGM PGAM2 PFKP PFKM PFKL GBE1
3
Show member pathways
12.09 PGAM2 PFKP PFKM PFKL ENO3
4
Show member pathways
12.08 PFKP PFKM PFKL ENO3
5
Show member pathways
11.96 PFKP PFKM PFKL
6
Show member pathways
11.81 PYGM PGAM2 PFKP PFKM PFKL GBE1
7 11.8 PFKP PFKM PFKL
8 11.77 PFKP PFKM PFKL ENO3
9
Show member pathways
11.72 PGAM2 PFKP PFKM PFKL
10 11.68 PYGM PGAM2 PFKP PFKM PFKL
11
Show member pathways
11.52 PYGM PFKP PFKM PFKL GBE1 AGL
12
Show member pathways
11.48 PFKP PFKM PFKL
13 11.47 PGAM2 PFKP PFKM PFKL
14
Show member pathways
11.33 PFKP PFKM PFKL
15 11.19 PYGM GBE1 AGL

GO Terms for Glycogen Storage Disease Vii

Cellular components related to Glycogen Storage Disease Vii according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 10.02 PYGM PGAM2 PFKP PFKM PFKL GBE1
2 ficolin-1-rich granule lumen GO:1904813 9.43 PFKL AMPD3 AGL
3 secretory granule lumen GO:0034774 9.33 PFKL AMPD3 AGL
4 Z disc GO:0030018 9.26 NRAP MYOZ3 MYOM3 FHL3
5 6-phosphofructokinase complex GO:0005945 8.8 PFKP PFKM PFKL

Biological processes related to Glycogen Storage Disease Vii according to GeneCards Suite gene sharing:

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 carbohydrate metabolic process GO:0005975 9.84 PYGM PPP1R3D PFKL GBE1
2 metabolic process GO:0008152 9.83 PYGM PFKP PFKM PFKL AGL
3 protein homotetramerization GO:0051289 9.69 PFKP PFKM PFKL
4 glycogen catabolic process GO:0005980 9.63 PYGM PFKM AGL
5 gluconeogenesis GO:0006094 9.59 PGAM2 ENO3
6 nucleotide metabolic process GO:0009117 9.58 AMPD3 AMPD1
7 glycogen biosynthetic process GO:0005978 9.58 GBE1 AGL
8 fructose 6-phosphate metabolic process GO:0006002 9.58 PFKP PFKM PFKL
9 striated muscle contraction GO:0006941 9.57 PGAM2 MYOM3
10 purine ribonucleoside monophosphate biosynthetic process GO:0009168 9.56 AMPD3 AMPD1
11 glycogen metabolic process GO:0005977 9.56 PYGM PPP1R3D GBE1 AGL
12 purine-containing compound salvage GO:0043101 9.55 AMPD3 AMPD1
13 fructose 1,6-bisphosphate metabolic process GO:0030388 9.54 PFKP PFKM PFKL
14 AMP metabolic process GO:0046033 9.52 AMPD3 AMPD1
15 glucose catabolic process GO:0006007 9.5 PFKP PFKM PFKL
16 IMP salvage GO:0032264 9.49 AMPD3 AMPD1
17 IMP biosynthetic process GO:0006188 9.48 AMPD3 AMPD1
18 glycolytic process GO:0006096 9.35 PGAM2 PFKP PFKM PFKL ENO3
19 glycolytic process through fructose-6-phosphate GO:0061615 9.33 PFKP PFKM PFKL
20 canonical glycolysis GO:0061621 9.02 PGAM2 PFKP PFKM PFKL ENO3

Molecular functions related to Glycogen Storage Disease Vii according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 transferase activity GO:0016740 9.97 PYGM PFKP PFKM PFKL GBE1 AGL
2 catalytic activity GO:0003824 9.7 PYGM PGAM2 PFKP PFKM PFKL GBE1
3 transferase activity, transferring glycosyl groups GO:0016757 9.65 PYGM GBE1 AGL
4 monosaccharide binding GO:0048029 9.5 PFKP PFKM PFKL
5 muscle alpha-actinin binding GO:0051371 9.46 NRAP MYOM3
6 deaminase activity GO:0019239 9.43 AMPD3 AMPD1
7 AMP binding GO:0016208 9.43 PFKP PFKM PFKL
8 fructose binding GO:0070061 9.4 PFKM PFKL
9 AMP deaminase activity GO:0003876 9.37 AMPD3 AMPD1
10 fructose-6-phosphate binding GO:0070095 9.13 PFKP PFKM PFKL
11 6-phosphofructokinase activity GO:0003872 8.8 PFKP PFKM PFKL

Sources for Glycogen Storage Disease Vii

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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