Glycogen Storage Disease Vii disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: GLY011 MIFTS: 48	Glycogen Storage Disease Vii Categories: Genetic diseases, Rare diseases, Neuronal diseases, Metabolic diseases, Blood diseases, Liver diseases, Nephrological diseases, Cardiovascular diseases, Muscle diseases, Endocrine diseases
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Aliases & Classifications for Glycogen Storage Disease Vii

MalaCards integrated aliases for Glycogen Storage Disease Vii:

Name: Glycogen Storage Disease Vii ⁵⁷ ¹² ⁷⁵ ¹³ ¹⁵

Glycogen Storage Disease Type Vii ¹² ⁷⁶ ²⁵ ⁵⁹ ³⁷ ⁴⁴ ⁷³

Muscle Phosphofructokinase Deficiency ⁵⁷ ¹² ⁵³ ²⁵ ⁷⁵

Tarui Disease ⁵⁷ ⁵³ ²⁵ ⁵⁹ ⁷⁵

Pfkm Deficiency ⁵⁷ ⁵³ ²⁵ ⁷⁵

Gsd7 ⁵⁷ ⁵³ ²⁵ ⁷⁵

Glycogen Storage Disease, Type Vii ¹² ²⁹ ⁶

Glycogen Storage Disease Type 7 ⁷⁶ ⁵³ ⁵⁹

Gsd Vii ⁵⁷ ²⁵ ⁷⁵

Phosphofructokinase Deficiency ²⁵ ⁵⁵

Glycogen Storage Disease Due to Muscle Phosphofructokinase Deficiency ⁵⁹

Glycogenosis Due to Muscle Phosphofructokinase Deficiency ⁵⁹

Gsd Due to Muscle Phosphofructokinase Deficiency ⁵⁹

Storage Disease, Glycogen, Type Vii ⁴⁰

Phosphofructokinase, Muscle Type ¹³

Phosphofructokinase Myopathy ¹²

Glycogen Storage Disease 7 ⁷⁵

Glycogenosis Type Vii ⁵⁹

Glycogenosis Type 7 ⁵⁹

Glycogenosis 7 ²⁵

Gsd Type Vii ⁵⁹

Gsd Type 7 ⁵⁹

Gsd-Vii ⁷⁵

Characteristics:

Orphanet epidemiological data:

⁵⁹

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

OMIM:

⁵⁷

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:

³²

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

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases
Anatomical: Neuronal diseases Blood diseases Liver diseases Nephrological diseases Cardiovascular diseases Muscle diseases Endocrine diseases

See all MalaCards categories (disease lists)

ICD10: ³⁴

Endocrine, nutritional and metabolic diseases

Metabolic disorders

Other disorders of carbohydrate metabolism

Glycogen storage disease

Orphanet: ⁵⁹

Rare neurological diseases

Inborn errors of metabolism

Rare haematological diseases

External Ids:

OMIM ⁵⁷ 232800

Disease Ontology ¹² DOID:11721

ICD10 ³³ E74.09

MeSH ⁴⁴ D006014

NCIt ⁵⁰ C118437

SNOMED-CT ⁶⁸ 234406005 89597008

Orphanet ⁵⁹ ORPHA371

UMLS via Orphanet ⁷⁴ C0017926

ICD10 via Orphanet ³⁴ E74.0

MedGen ⁴² C0017926

KEGG ³⁷ H01945

SNOMED-CT via HPO ⁶⁹ 258211005 18165001 266474003 more

UMLS ⁷³ C0017926

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Summaries for Glycogen Storage Disease Vii

NIH Rare Diseases : ⁵³ 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.

MalaCards based summary : Glycogen Storage Disease Vii, also known as glycogen storage disease type vii, is related to glycogen storage disease and phosphoglycerate mutase deficiency, 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 testes and skeletal muscle, and related phenotypes are muscle weakness and anemia

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.

OMIM : ⁵⁷ 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)

UniProtKB/Swiss-Prot : ⁷⁵ 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 : ⁷⁶ Phosphofructokinase deficiency, also known as glycogen storage disease type VII or Tarui\'s disease, is... more...

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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 all 12)

#	Related Disease	Score	Top Affiliating Genes
1	glycogen storage disease	29.7	GBE1 PFKM PYGM
2	phosphoglycerate mutase deficiency	11.0
3	phosphoglycerate kinase deficiency	10.3	PFKM PYGM
4	carbohydrate metabolic disorder	9.9	GBE1 PFKM PYGM
5	glycogen storage disease v	9.9	AMPD3 PFKM PYGM
6	spinocerebellar ataxia 29	9.9
7	arthritis	9.9
8	gastric ulcer	9.9
9	hyperuricemia	9.9
10	glycogen storage disease ii	9.8	MGAM PYGM
11	myoglobinuria	9.8	PFKM PYGM
12	commensal bacterial infectious disease	9.6	MYOM2 WDTC1

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

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Symptoms & Phenotypes for Glycogen Storage Disease Vii

Symptoms via clinical synopsis from OMIM:

⁵⁷

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

Human phenotypes related to Glycogen Storage Disease Vii:

⁵⁹ ³² (show all 16)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	muscle weakness ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0001324
2	anemia ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0001903
3	hyperuricemia ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0002149
4	myotonia ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0002486
5	skeletal muscle atrophy ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0003202
6	increased muscle glycogen content ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0009051
7	jaundice ³²			HP:0000952
8	cholelithiasis ³²			HP:0001081
9	hemolytic anemia ³²			HP:0001878
10	reticulocytosis ³²			HP:0001923
11	gout ³²			HP:0001997
12	exercise intolerance ³²			HP:0003546
13	increased total bilirubin ³²			HP:0003573
14	exercise-induced muscle cramps ³²			HP:0003710
15	exercise-induced myoglobinuria ³²			HP:0008305
16	reduced erythrocyte 2,3-diphosphoglycerate concentration ³²			HP:0030271

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	9.13	PFKP PFKL PFKM
2	Decreased viability after gemcitabine stimulation	GR00107-A-2	8.62	PFKM PFKP

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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		Not Applicable

Interventional clinical trials:

#	Name	Status	NCT ID	Phase
1	Genetic and Family Studies of Inherited Muscle Diseases	Completed	NCT00001331
2	Biomarker for Glycogen Storage Diseases	Recruiting	NCT02385162
3	Fat and Sugar Metabolism During Exercise in Patients With Metabolic Myopathy	Recruiting	NCT02635269	Not Applicable

Search NIH Clinical Center for Glycogen Storage Disease Vii

Cochrane evidence based reviews: glycogen storage disease type vii

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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

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Anatomical Context for Glycogen Storage Disease Vii

MalaCards organs/tissues related to Glycogen Storage Disease Vii:

⁴¹

Testes, Skeletal Muscle

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Publications for Glycogen Storage Disease Vii

Articles related to Glycogen Storage Disease Vii:

#	Title	Authors	Year
1	[Glycogenosis type VII (glycogen storage disease type VII, human muscle-phosphofructokinase deficiency, Tarui's disease)]. ( 11596390 )	Yamasaki T....Nakajima H.	2001
2	Characterization of the enzymatic defect in late-onset muscle phosphofructokinase deficiency. New subtype of glycogen storage disease type VII. ( 2960695 )	Vora S....Danon M.J.	1987

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Genes for Glycogen Storage Disease Vii

Genes related to Glycogen Storage Disease Vii (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	PFKM	Phosphofructokinase, Muscle	Protein Coding	1680.14	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Causative variation ⁷⁵ Genetic Tests ²⁹ DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : DISEASES inferred (show sections)	1833270 14339001 2140573 (more) 7513946 8037209 8880699 9389749 8444874 7479776 8889589 7603526 9443500 1824792 14718702 17608317 8659544 7513946 2140573 8797477 8661033 1826293 7518679 1838126 7479776 7603525 2018547 15938748 9305371 11596390 8785459 1394261 1838230 1827789 9829278 9541495 7603532 7825568 7603526 8880699 10365541 10809925
2	PYGM	Glycogen Phosphorylase, Muscle Associated	Protein Coding	20.87	Novoseek inferred ⁵⁵ GeneCards inferred via : Novoseek inferred (show sections)	7998768 10809925 1834009 (more) 15938748 9541495 10924019
3	GBE1	1,4-Alpha-Glucan Branching Enzyme 1	Protein Coding	20.39	Novoseek inferred ⁵⁵ GeneCards inferred via : Novoseek inferred (show sections)	1838126
4	AMPD3	Adenosine Monophosphate Deaminase 3	Protein Coding	19.82	Novoseek inferred ⁵⁵ GeneCards inferred via : Novoseek inferred (show sections)	16670071 15807549
5	PFKP	Phosphofructokinase, Platelet	Protein Coding	17.29	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
6	MYOM2	Myomesin 2	Protein Coding	14.18	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
7	MGAM	Maltase-Glucoamylase	Protein Coding	13.88	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
8	PFKL	Phosphofructokinase, Liver Type	Protein Coding	4.48	DISEASES inferred ¹⁵
9	WDTC1	WD And Tetratricopeptide Repeats 1	Protein Coding	3.66	DISEASES inferred ¹⁵

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Variations for Glycogen Storage Disease Vii

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

⁷⁵

#	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
9	PFKM	p.Asp591Ala	VAR_072242

ClinVar genetic disease variations for Glycogen Storage Disease Vii:

⁶

(show top 50) (show all 82)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	PFKM	PFKM, IVS15DS, G-T, +1	single nucleotide variant	Pathogenic
2	PFKM	PFKM, IVS6AS, A-C, -2	single nucleotide variant	Pathogenic
3	PFKM	NM_001166686.1(PFKM): c.329G> C (p.Arg110Pro)	single nucleotide variant	Pathogenic	rs121918193	GRCh37	Chromosome 12, 48524176: 48524176
4	PFKM	NM_001166686.1(PFKM): c.329G> C (p.Arg110Pro)	single nucleotide variant	Pathogenic	rs121918193	GRCh38	Chromosome 12, 48130393: 48130393
5	PFKM	NM_001166686.1(PFKM): c.1841A> C (p.Asp614Ala)	single nucleotide variant	Pathogenic	rs121918194	GRCh37	Chromosome 12, 48535824: 48535824
6	PFKM	NM_001166686.1(PFKM): c.1841A> C (p.Asp614Ala)	single nucleotide variant	Pathogenic	rs121918194	GRCh38	Chromosome 12, 48142041: 48142041
7	PFKM	PFKM, IVS5DS, G-A, +1	single nucleotide variant	Pathogenic
8	PFKM	NM_000289.5(PFKM): c.116G> T (p.Arg39Leu)	single nucleotide variant	Pathogenic	rs121918193	GRCh37	Chromosome 12, 48524176: 48524176
9	PFKM	NM_000289.5(PFKM): c.116G> T (p.Arg39Leu)	single nucleotide variant	Pathogenic	rs121918193	GRCh38	Chromosome 12, 48130393: 48130393
10	PFKM	NM_001166686.1(PFKM): c.496C> T (p.Arg166Ter)	single nucleotide variant	Pathogenic	rs121918195	GRCh37	Chromosome 12, 48526696: 48526696
11	PFKM	NM_001166686.1(PFKM): c.496C> T (p.Arg166Ter)	single nucleotide variant	Pathogenic	rs121918195	GRCh38	Chromosome 12, 48132913: 48132913
12	PFKM	NM_001166686.1(PFKM): c.2271G> T (p.Trp757Cys)	single nucleotide variant	Pathogenic	rs121918196	GRCh37	Chromosome 12, 48538879: 48538879
13	PFKM	NM_001166686.1(PFKM): c.2271G> T (p.Trp757Cys)	single nucleotide variant	Pathogenic	rs121918196	GRCh38	Chromosome 12, 48145096: 48145096
14	PFKM	PFKM, 1-BP DEL, 2003C	deletion	Pathogenic
15	PFKM	NM_001166686.1(PFKM): c.450+1G> A	single nucleotide variant	Pathogenic	rs202143236	GRCh37	Chromosome 12, 48525177: 48525177
16	PFKM	NM_001166686.1(PFKM): c.450+1G> A	single nucleotide variant	Pathogenic	rs202143236	GRCh38	Chromosome 12, 48131394: 48131394
17	PFKM	NM_000289.5(PFKM): c.246G> A (p.Thr82=)	single nucleotide variant	Benign/Likely benign	rs2228501	GRCh38	Chromosome 12, 48132876: 48132876
18	PFKM	NM_000289.5(PFKM): c.246G> A (p.Thr82=)	single nucleotide variant	Benign/Likely benign	rs2228501	GRCh37	Chromosome 12, 48526659: 48526659
19	PFKM	NM_000289.5(PFKM): c.299G> A (p.Arg100Gln)	single nucleotide variant	Benign	rs2228500	GRCh37	Chromosome 12, 48526712: 48526712
20	PFKM	NM_000289.5(PFKM): c.299G> A (p.Arg100Gln)	single nucleotide variant	Benign	rs2228500	GRCh38	Chromosome 12, 48132929: 48132929
21	PFKM	NM_000289.5(PFKM): c.306C> T (p.Ala102=)	single nucleotide variant	Benign/Likely benign	rs11552507	GRCh38	Chromosome 12, 48132936: 48132936
22	PFKM	NM_000289.5(PFKM): c.306C> T (p.Ala102=)	single nucleotide variant	Benign/Likely benign	rs11552507	GRCh37	Chromosome 12, 48526719: 48526719
23	PFKM	NM_000289.5(PFKM): c.516C> T (p.Thr172=)	single nucleotide variant	Benign	rs1049392	GRCh38	Chromosome 12, 48133403: 48133403
24	PFKM	NM_000289.5(PFKM): c.516C> T (p.Thr172=)	single nucleotide variant	Benign	rs1049392	GRCh37	Chromosome 12, 48527186: 48527186
25	PFKM	NM_000289.5(PFKM): c.1342-14G> T	single nucleotide variant	Benign/Likely benign	rs56117548	GRCh37	Chromosome 12, 48535080: 48535080
26	PFKM	NM_000289.5(PFKM): c.1342-14G> T	single nucleotide variant	Benign/Likely benign	rs56117548	GRCh38	Chromosome 12, 48141297: 48141297
27	PFKM	NM_000289.5(PFKM): c.2087G> A (p.Arg696His)	single nucleotide variant	Benign/Likely benign	rs41291971	GRCh37	Chromosome 12, 48538908: 48538908
28	PFKM	NM_000289.5(PFKM): c.2087G> A (p.Arg696His)	single nucleotide variant	Benign/Likely benign	rs41291971	GRCh38	Chromosome 12, 48145125: 48145125
29	PFKM	NM_000289.5(PFKM): c.2093-14A> G	single nucleotide variant	Benign	rs11168427	GRCh37	Chromosome 12, 48538979: 48538979
30	PFKM	NM_000289.5(PFKM): c.2093-14A> G	single nucleotide variant	Benign	rs11168427	GRCh38	Chromosome 12, 48145196: 48145196
31	PFKM	NM_000289.5(PFKM): c.2334T> G (p.Ala778=)	single nucleotide variant	Benign	rs8716	GRCh37	Chromosome 12, 48539482: 48539482
32	PFKM	NM_000289.5(PFKM): c.2334T> G (p.Ala778=)	single nucleotide variant	Benign	rs8716	GRCh38	Chromosome 12, 48145699: 48145699
33	PFKM	NM_000289.5(PFKM): c.-112T> G	single nucleotide variant	Benign	rs12306290	GRCh38	Chromosome 12, 48119303: 48119303
34	PFKM	NM_000289.5(PFKM): c.-112T> G	single nucleotide variant	Benign	rs12306290	GRCh37	Chromosome 12, 48513086: 48513086
35	PFKM	NM_000289.5(PFKM): c.360C> T (p.Gly120=)	single nucleotide variant	Uncertain significance	rs886049453	GRCh38	Chromosome 12, 48132990: 48132990
36	PFKM	NM_000289.5(PFKM): c.360C> T (p.Gly120=)	single nucleotide variant	Uncertain significance	rs886049453	GRCh37	Chromosome 12, 48526773: 48526773
37	PFKM	NM_000289.5(PFKM): c.1338G> A (p.Gly446=)	single nucleotide variant	Uncertain significance	rs150378513	GRCh38	Chromosome 12, 48140868: 48140868
38	PFKM	NM_000289.5(PFKM): c.1338G> A (p.Gly446=)	single nucleotide variant	Uncertain significance	rs150378513	GRCh37	Chromosome 12, 48534651: 48534651
39	PFKM	NM_000289.5(PFKM): c.1946A> G (p.Lys649Arg)	single nucleotide variant	Uncertain significance	rs199528011	GRCh38	Chromosome 12, 48144111: 48144111
40	PFKM	NM_000289.5(PFKM): c.1946A> G (p.Lys649Arg)	single nucleotide variant	Uncertain significance	rs199528011	GRCh37	Chromosome 12, 48537894: 48537894
41	PFKM	NM_000289.5(PFKM): c.*134G> A	single nucleotide variant	Uncertain significance	rs886049456	GRCh37	Chromosome 12, 48539625: 48539625
42	PFKM	NM_000289.5(PFKM): c.*134G> A	single nucleotide variant	Uncertain significance	rs886049456	GRCh38	Chromosome 12, 48145842: 48145842
43	PFKM	NM_000289.5(PFKM): c.*503G> T	single nucleotide variant	Uncertain significance	rs747797192	GRCh37	Chromosome 12, 48539994: 48539994
44	PFKM	NM_000289.5(PFKM): c.*503G> T	single nucleotide variant	Uncertain significance	rs747797192	GRCh38	Chromosome 12, 48146211: 48146211
45	PFKM	NM_000289.5(PFKM): c.-176C> T	single nucleotide variant	Uncertain significance	rs886049451	GRCh38	Chromosome 12, 48119239: 48119239
46	PFKM	NM_000289.5(PFKM): c.-176C> T	single nucleotide variant	Uncertain significance	rs886049451	GRCh37	Chromosome 12, 48513022: 48513022
47	PFKM	NM_000289.5(PFKM): c.-64C> T	single nucleotide variant	Uncertain significance	rs886049452	GRCh38	Chromosome 12, 48119351: 48119351
48	PFKM	NM_000289.5(PFKM): c.-64C> T	single nucleotide variant	Uncertain significance	rs886049452	GRCh37	Chromosome 12, 48513134: 48513134
49	PFKM	NM_000289.5(PFKM): c.638+15C> A	single nucleotide variant	Conflicting interpretations of pathogenicity	rs376150217	GRCh38	Chromosome 12, 48134291: 48134291
50	PFKM	NM_000289.5(PFKM): c.638+15C> A	single nucleotide variant	Conflicting interpretations of pathogenicity	rs376150217	GRCh37	Chromosome 12, 48528074: 48528074

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Expression for Glycogen Storage Disease Vii

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

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Pathways for Glycogen Storage Disease Vii

Pathways related to Glycogen Storage Disease Vii according to KEGG:

³⁷

#	Name	Kegg Source Accession
1	Glycolysis / Gluconeogenesis	hsa00010

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

(show all 13)

#	Super pathways	Score	Top Affiliating Genes
1	Metabolism ⁶⁶ Show member pathways Metabolic pathways ³⁷ Metabolism of lipids and lipoproteins ⁶⁶	13.7	AMPD3 GBE1 MGAM PFKL PFKM PFKP
2	Glycosaminoglycan metabolism ⁶⁶ Show member pathways chondroitin sulfate biosynthesis ¹ chondroitin sulfate biosynthesis (late stages) ¹ Heparan sulfate/heparin (HS-GAG) metabolism ⁶⁶ HS-GAG biosynthesis ⁶⁶ Hyaluronan biosynthesis and export ⁶⁶ Hyaluronan metabolism ⁶⁶ Hyaluronan uptake and degradation ⁶⁶ Metabolism of carbohydrates ⁶⁶	12.18	GBE1 MGAM PFKL PFKM PFKP PYGM
3	Glucose metabolism ⁶⁶ Show member pathways gluconeogenesis ¹ Gluconeogenesis ⁶⁶ glycogen biosynthesis ¹ Glycogen breakdown (glycogenolysis) ⁶⁶ Glycogen storage disease type 0 (liver GYS2) ⁶⁶ Glycogen storage disease type II (GAA) ⁶⁶ Glycogen storage disease type IV (GBE1) ⁶⁶ Glycogen synthesis ⁶⁶ glycolysis ¹ Glycolysis ⁶⁶ Glycolysis / Gluconeogenesis ³⁷ Glycolysis and Gluconeogenesis ¹ Glycolysis and gluconeogenesis (short map) ²² Lysosomal glycogen catabolism ⁶⁶ malate-aspartate shuttle ¹	12.13	GBE1 PFKL PFKM PFKP PYGM
4	AMP-activated Protein Kinase (AMPK) Signaling ¹ Show member pathways AMPK signaling pathway ³⁷ AMPK Signaling Pathway ⁶⁷	12.1	PFKL PFKM PFKP
5	Carbon metabolism ³⁷ Show member pathways 2-Oxocarboxylic acid metabolism ³⁷ Biosynthesis of amino acids ³⁷ formaldehyde oxidation ¹	11.98	PFKL PFKM PFKP
6	Deadenylation-dependent mRNA decay ⁶⁶ Show member pathways Deadenylation of mRNA ⁶⁶ mRNA decay by 3 to 5' exoribonuclease ⁶⁶ mRNA decay by 5 to 3' exoribonuclease ⁶⁶ RNA degradation ³⁷	11.92	PFKL PFKM PFKP
7	AMPK Enzyme Complex Pathway ⁶⁴ Show member pathways Chromatin Remodeling ⁶⁴ mitochondrial L-carnitine shuttle ¹	11.84	PFKL PFKM PFKP
8	Citrate cycle (TCA cycle) ³⁷ Show member pathways pyruvate decarboxylation to acetyl CoA ¹ superpathway of conversion of glucose to acetyl CoA and entry into the TCA cycle ¹ TCA cycle ¹ TCA Cycle and Deficiency of Pyruvate Dehydrogenase complex (PDHc) ¹	11.59	PFKL PFKM PFKP
9	Central carbon metabolism in cancer ³⁷	11.36	PFKL PFKM PFKP
10	Pentose phosphate pathway ³⁷ ¹ ¹ Show member pathways 5-Phosphoribose 1-diphosphate biosynthesis ⁶⁶ Insulin effects increased synthesis of Xylulose-5-Phosphate ⁶⁶ Pentose phosphate pathway (hexose monophosphate shunt) ⁶⁶ pentose phosphate pathway (non-oxidative branch) ¹ PRPP biosynthesis ¹	11.29	PFKL PFKM PFKP
11	Galactose metabolism ³⁷ ²² Show member pathways D-galactose degradation V (Leloir pathway) ¹ Galactose catabolism ⁶⁶ GDP-glucose biosynthesis II ¹ Glycogen metabolism ²² Neomycin, kanamycin and gentamicin biosynthesis ³⁷ Starch and sucrose metabolism ³⁷ UDP-N-acetyl-D-galactosamine biosynthesis I ¹	11.18	GBE1 MGAM PFKL PFKM PFKP PYGM
12	Fructose and mannose metabolism ³⁷ Show member pathways D-mannose degradation ¹ fructose 2,6-bisphosphate synthesis ¹ GDP-mannose biosynthesis ¹ Synthesis of GDP-mannose ⁶⁶	11.1	PFKL PFKM PFKP
13	Glycogen Metabolism ¹	11.05	GBE1 PYGM

Sources

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	9.7	AMPD3 GBE1 PFKL PFKM PFKP PYGM
2	extracellular exosome	GO:0070062	9.43	GBE1 MGAM PFKL PFKM PFKP PYGM
3	6-phosphofructokinase complex	GO:0005945	8.62	PFKL PFKM

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

#	Name	GO ID	Score	Top Affiliating Genes
1	metabolic process	GO:0008152	9.72	MGAM PFKL PFKM PFKP PYGM
2	carbohydrate metabolic process	GO:0005975	9.67	GBE1 MGAM PFKL PYGM
3	protein complex oligomerization	GO:0051259	9.46	PFKL PFKM
4	glycogen metabolic process	GO:0005977	9.43	GBE1 PYGM
5	glycolytic process	GO:0006096	9.43	PFKL PFKM PFKP
6	glycogen catabolic process	GO:0005980	9.4	PFKM PYGM
7	canonical glycolysis	GO:0061621	9.33	PFKL PFKM PFKP
8	fructose 6-phosphate metabolic process	GO:0006002	9.13	PFKL PFKM PFKP
9	glycolytic process through fructose-6-phosphate	GO:0061615	8.8	PFKL PFKM PFKP

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

#	Name	GO ID	Score	Top Affiliating Genes
1	transferase activity	GO:0016740	9.77	GBE1 PFKL PFKM PFKP PYGM
2	kinase binding	GO:0019900	9.43	MYOM2 PFKL PFKM
3	catalytic activity	GO:0003824	9.35	MGAM PFKL PFKM PFKP PYGM
4	hydrolase activity, hydrolyzing O-glycosyl compounds	GO:0004553	9.32	GBE1 MGAM
5	fructose binding	GO:0070061	9.16	PFKL PFKM
6	6-phosphofructokinase activity	GO:0003872	8.8	PFKL PFKM PFKP

Sources

Sources for Glycogen Storage Disease Vii

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ ExPASy

¹⁸ FDA Approved Drugs

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia