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	glycogen storage disease

Disease ID	339
Disease	glycogen storage disease
Definition	A group of inherited metabolic disorders involving the enzymes responsible for the synthesis and degradation of glycogen. In some patients, prominent liver involvement is presented. In others, more generalized storage of glycogen occurs, sometimes with prominent cardiac involvement.
Synonym	disease glycogen storage disease, glycogen storage diseases glycogen storage diseases, glycogen storage disorders glycogen storage glycogen storage dis glycogen storage disease (disorder) glycogen storage disease [disease/finding] glycogen storage disease, nos glycogen storage diseases glycogen storage disorder glycogenoses glycogenosis glycogenosis nos glycogenosis nos (disorder) glycogenosis, nos gsd - glycogen storage disease storage disease, glycogen storage diseases, glycogen
Orphanet	ORPHANET:79201
DOID	DOID:2747
UMLS	C0017919
MeSH	D006008
SNOMED-CT	SNOMEDCT_US_2016_09_01:29633007
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:36) C0206669 \| hepatocellular adenoma \| 5 C0206669 \| hepatocellular adenomas \| 4 C0001430 \| adenoma \| 3 C0011854 \| type 1 diabetes \| 2 C0020538 \| hypertension \| 2 C0011854 \| type 1 diabetes mellitus \| 2 C0023890 \| cirrhosis \| 2 C0020542 \| pulmonary hypertension \| 2 C0020598 \| hypoglycemia \| 2 C0206669 \| hepatic adenoma \| 1 C0017926 \| muscle phosphofructokinase deficiency \| 1 C0030486 \| paraplegia \| 1 C0017924 \| mcardle disease \| 1 C0002726 \| amyloidosis \| 1 C0021831 \| bowel disease \| 1 C0020437 \| hypercalcemia \| 1 C0026654 \| moyamoya disease \| 1 C0028754 \| obesity \| 1 C0018099 \| gout \| 1 C0026654 \| moyamoya \| 1 C0022658 \| nephropathy \| 1 C0878544 \| cardiomyopathy \| 1 C0206698 \| cholangiocellular carcinoma \| 1 C0017926 \| phosphofructokinase deficiency \| 1 C0011849 \| diabetes mellitus \| 1 C0010068 \| coronary artery disease \| 1 C0023890 \| liver cirrhosis \| 1 C0026705 \| hunter syndrome \| 1 C0021390 \| inflammatory bowel disease \| 1 C0027947 \| neutropenia \| 1 C0002871 \| anemia \| 1 C0026848 \| myopathy \| 1 C0026846 \| muscle atrophy \| 1 C0032460 \| polycystic ovary syndrome \| 1 C0020617 \| hypoglycaemic coma \| 1 C0011847 \| diabetes \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:21) 5236 \| PGM1 \| UniProtKB-KW 5836 \| PYGL \| UniProtKB-KW;GHR 178 \| AGL \| UniProtKB-KW 3939 \| LDHA \| UniProtKB-KW 7957 \| EPM2A \| UniProtKB-KW 51422 \| PRKAG2 \| UniProtKB-KW 2027 \| ENO3 \| UniProtKB-KW 5256 \| PHKA2 \| CTD_human;UniProtKB-KW 5255 \| PHKA1 \| UniProtKB-KW 5224 \| PGAM2 \| UniProtKB-KW 5257 \| PHKB \| UniProtKB-KW 226 \| ALDOA \| UniProtKB-KW 2632 \| GBE1 \| UniProtKB-KW;GHR 5261 \| PHKG2 \| UniProtKB-KW 2538 \| G6PC \| UniProtKB-KW;GHR 3920 \| LAMP2 \| UniProtKB-KW 2998 \| GYS2 \| UniProtKB-KW 2548 \| GAA \| UniProtKB-KW;GHR 5213 \| PFKM \| UniProtKB-KW;GHR 2992 \| GYG1 \| CTD_human;UniProtKB-KW 5837 \| PYGM \| UniProtKB-KW;GHR
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:7) 178 \| AGL \| CIPHER 2538 \| G6PC \| CIPHER 2548 \| GAA \| CIPHER 2542 \| SLC37A4 \| CIPHER 6519 \| SLC3A1 \| CIPHER 5256 \| PHKA2 \| CTD_human 2992 \| GYG1 \| CTD_human
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:95) 32 \| ACACB \| 1.923 \| DISEASES 34 \| ACADM \| 2.078 \| DISEASES 55811 \| ADCY10 \| 1.048 \| DISEASES 146 \| ADRA1D \| 1.177 \| DISEASES 229 \| ALDOB \| 4.487 \| DISEASES 85365 \| ALG2 \| 2.012 \| DISEASES 270 \| AMPD1 \| 4.553 \| DISEASES 272 \| AMPD3 \| 1.815 \| DISEASES 276 \| AMY1A \| 1.115 \| DISEASES 277 \| AMY1B \| 1.115 \| DISEASES 278 \| AMY1C \| 1.115 \| DISEASES 344 \| APOC2 \| 1.491 \| DISEASES 10533 \| ATG7 \| 1.059 \| DISEASES 487 \| ATP2A1 \| 1.258 \| DISEASES 820 \| CAMP \| 1.181 \| DISEASES 10498 \| CARM1 \| 1.205 \| DISEASES 859 \| CAV3 \| 1.893 \| DISEASES 55036 \| CCDC40 \| 2.017 \| DISEASES 9793 \| CKAP5 \| 1.568 \| DISEASES 1192 \| CLIC1 \| 5.76 \| DISEASES 1376 \| CPT2 \| 2.911 \| DISEASES 1499 \| CTNNB1 \| 1.948 \| DISEASES 5476 \| CTSA \| 1.651 \| DISEASES 1756 \| DMD \| 2.754 \| DISEASES 285489 \| DOK7 \| 1.42 \| DISEASES 50506 \| DUOX2 \| 1.142 \| DISEASES 2027 \| ENO3 \| 2.081 \| DISEASES 7957 \| EPM2A \| 1.338 \| DISEASES 2110 \| ETFDH \| 1.394 \| DISEASES 2203 \| FBP1 \| 1.451 \| DISEASES 8789 \| FBP2 \| 1.983 \| DISEASES 389549 \| FEZF1 \| 1.097 \| DISEASES 2564 \| GABRE \| 1.65 \| DISEASES 23193 \| GANAB \| 3.846 \| DISEASES 2595 \| GANC \| 4.17 \| DISEASES 2632 \| GBE1 \| 6.063 \| DISEASES 2641 \| GCG \| 4.02 \| DISEASES 728441 \| GGT2 \| 1.18 \| DISEASES 2687 \| GGT5 \| 1.893 \| DISEASES 2731 \| GLDC \| 1.275 \| DISEASES 27232 \| GNMT \| 1.167 \| DISEASES 2805 \| GOT1 \| 1.267 \| DISEASES 8733 \| GPAA1 \| 1.784 \| DISEASES 160897 \| GPR180 \| 1.148 \| DISEASES 9721 \| GPRIN2 \| 2.57 \| DISEASES 2992 \| GYG1 \| 4.439 \| DISEASES 8908 \| GYG2 \| 2.051 \| DISEASES 2996 \| GYPE \| 2.086 \| DISEASES 10989 \| IMMT \| 1.722 \| DISEASES 387755 \| INSC \| 2.651 \| DISEASES 3908 \| LAMA2 \| 2.197 \| DISEASES 3920 \| LAMP2 \| 4.293 \| DISEASES 3988 \| LIPA \| 1.468 \| DISEASES 4125 \| MAN2B1 \| 1.346 \| DISEASES 9782 \| MATR3 \| 1.488 \| DISEASES 4151 \| MB \| 2.179 \| DISEASES 83552 \| MFRP \| 1.014 \| DISEASES 92399 \| MRRF \| 1.247 \| DISEASES 22921 \| MSRB2 \| 1.82 \| DISEASES 4519 \| MT-CYB \| 1.031 \| DISEASES 4625 \| MYH7 \| 1.176 \| DISEASES 378884 \| NHLRC1 \| 1.6 \| DISEASES 8481 \| OFD1 \| 1.23 \| DISEASES 5091 \| PC \| 1.627 \| DISEASES 5096 \| PCCB \| 1.142 \| DISEASES 5213 \| PFKM \| 5.781 \| DISEASES 5214 \| PFKP \| 3.483 \| DISEASES 5236 \| PGM1 \| 3.906 \| DISEASES 5255 \| PHKA1 \| 5.079 \| DISEASES 5256 \| PHKA2 \| 6.125 \| DISEASES 5261 \| PHKG2 \| 5.225 \| DISEASES 30849 \| PIK3R4 \| 1.825 \| DISEASES 5563 \| PRKAA2 \| 1.537 \| DISEASES 55170 \| PRMT6 \| 1.648 \| DISEASES 10616 \| RBCK1 \| 3.891 \| DISEASES 11030 \| RBPMS \| 1.636 \| DISEASES 6191 \| RPS4X \| 1.875 \| DISEASES 6329 \| SCN4A \| 1.632 \| DISEASES 6342 \| SCP2 \| 1.112 \| DISEASES 57556 \| SEMA6A \| 1.339 \| DISEASES 6406 \| SEMG1 \| 1.131 \| DISEASES 8036 \| SHOC2 \| 1.127 \| DISEASES 6566 \| SLC16A1 \| 1.526 \| DISEASES 10246 \| SLC17A2 \| 3.327 \| DISEASES 10786 \| SLC17A3 \| 1.88 \| DISEASES 10165 \| SLC25A13 \| 1.526 \| DISEASES 788 \| SLC25A20 \| 1.047 \| DISEASES 6514 \| SLC2A2 \| 3.684 \| DISEASES 54020 \| SLC37A1 \| 3.769 \| DISEASES 84255 \| SLC37A3 \| 4.126 \| DISEASES 9748 \| SLK \| 2.344 \| DISEASES 6429 \| SRSF4 \| 1.894 \| DISEASES 6888 \| TALDO1 \| 1.941 \| DISEASES 7453 \| WARS \| 1.785 \| DISEASES 23038 \| WDTC1 \| 2.153 \| DISEASES
Locus	(Waiting for update.)

Disease ID	339
Disease	glycogen storage disease
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:29) HP:0012028 \| Hepatocellular adenoma \| 6 HP:0002092 \| Pulmonary artery hypertension \| 2 HP:0000822 \| Hypertension \| 2 HP:0001943 \| Hypoglycemia \| 2 HP:0001394 \| Hepatic cirrhosis \| 2 HP:0003072 \| Hypercalcemia \| 1 HP:0001325 \| Coma caused by low blood sugar \| 1 HP:0001513 \| Obesity \| 1 HP:0003202 \| Neurogenic muscle atrophy, especially in the lower limbs \| 1 HP:0000132 \| Hypermenorrhea \| 1 HP:0003198 \| Myopathic changes \| 1 HP:0030731 \| Carcinoma \| 1 HP:0005181 \| Premature coronary artery disease \| 1 HP:0011034 \| Amyloid disease \| 1 HP:0001638 \| Cardiomyopathy \| 1 HP:0001259 \| Coma \| 1 HP:0001324 \| Muscular weakness \| 1 HP:0001677 \| Coronary artery disease \| 1 HP:0010550 \| Paraplegia \| 1 HP:0001997 \| Gout \| 1 HP:0000819 \| Diabetes mellitus \| 1 HP:0001714 \| Ventricular hypertrophy \| 1 HP:0012115 \| Liver inflammation \| 1 HP:0001875 \| Neutropenia \| 1 HP:0000112 \| Nephropathy \| 1 HP:0012734 \| Ketotic hypoglycemia \| 1 HP:0001903 \| Anemia \| 1 HP:0002240 \| Enlarged liver \| 1 HP:0200123 \| Chronic liver inflammation \| 1

Disease ID	339
Disease	glycogen storage disease
Manually Symptom	UMLS \| Name(Total Manually Symptoms:29) C2707258 \| infections C1963084 \| colitis C1546654 \| granuloma C1512411 \| hepatocellular carcinoma C0850497 \| immune deficiency C0740394 \| hyperuricemia C0541760 \| liver adenomas C0403447 \| chronic renal insufficiency C0272183 \| neutrophil dysfunction C0268435 \| proximal renal tubular acidosis C0242339 \| dyslipidemia C0221773 \| hyperamylasaemia C0221252 \| eruptive xanthomas C0029166 \| oral manifestations C0027947 \| neutropenia C0026848 \| myopathy C0023903 \| liver neoplasms C0023895 \| hepatic pathology C0022658 \| renal disease C0022638 \| ketosis C0021831 \| intestinal disease C0021390 \| inflammatory bowel disease C0020615 \| hypoglycemia C0020473 \| hyperlipidemia C0020473 \| hyperlipidaemia C0020473 \| hyperlipemia C0019209 \| hepatomegaly C0018991 \| hemiplegia C0001430 \| adenoma
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:7) C0272183 \| neutrophil dysfunction \| 2 C0020598 \| hypoglycemia \| 2 C0001430 \| adenoma \| 2 C0242339 \| dyslipidemia \| 1 C0026848 \| myopathy \| 1 C0021390 \| inflammatory bowel disease \| 1 C0019209 \| hepatomegaly \| 1

Manually Genotype(Total Manually Genotypes:23)
Gene	Mutation	DOI	Article Title
GAA	c.236_246del11, p.Pro79Argfs13 (CD071347); c.236_246del11, p.Pro79Argfs13 (CD071347)	doi:10.1038/gim.2015.217	Molecular diagnosis of glycogen storage disease and disorders with overlapping clinical symptoms by massive parallel sequencing
AGL	c.2151delT, p.Phe717Leufs*13; c.2711_2717del7ins13, p.Leu904_Gln906delinsProLys AspLeuMet	doi:10.1038/gim.2015.217	Molecular diagnosis of glycogen storage disease and disorders with overlapping clinical symptoms by massive parallel sequencing
AGL	c.4391_4392delAT, p.Tyr1464Phefs*18; c.104T>G, p. Leu35Ter	doi:10.1038/gim.2015.217	Molecular diagnosis of glycogen storage disease and disorders with overlapping clinical symptoms by massive parallel sequencing
AGL	c.3216_3217delGA, p.Glu1072Aspfs*36 (CD104353); c.3444C>A, p.Tyr1148Ter (CM125030)	doi:10.1038/gim.2015.217	Molecular diagnosis of glycogen storage disease and disorders with overlapping clinical symptoms by massive parallel sequencing
AGL	c.664 + 3A>G, p.Ala222Valfs15 (CS023466); c.348_373del26, p.Ala117Leufs10	doi:10.1038/gim.2015.217	Molecular diagnosis of glycogen storage disease and disorders with overlapping clinical symptoms by massive parallel sequencing
AGL	c.1423 + 1G>A; c.2681 + 1G>A (CS992231)	doi:10.1038/gim.2015.217	Molecular diagnosis of glycogen storage disease and disorders with overlapping clinical symptoms by massive parallel sequencing
AGL	c.3980G>A, p.Trp1327Ter (CM023324); c.348_373del26, p.Ala117Leufs*10	doi:10.1038/gim.2015.217	Molecular diagnosis of glycogen storage disease and disorders with overlapping clinical symptoms by massive parallel sequencing
AGL	c.3216_3217delGA, p.Glu1072Aspfs36 (CD104353); c.348_373del26, p.Ala117Leufs10	doi:10.1038/gim.2015.217	Molecular diagnosis of glycogen storage disease and disorders with overlapping clinical symptoms by massive parallel sequencing
PHKB	[p.Ala118Pro; p.Tyr167Cys] (CM971170, -)	doi:10.1038/gim.2015.217	Molecular diagnosis of glycogen storage disease and disorders with overlapping clinical symptoms by massive parallel sequencing
PHKA2	c.1404dupT, p.His469Serfs*12	doi:10.1038/gim.2015.217	Molecular diagnosis of glycogen storage disease and disorders with overlapping clinical symptoms by massive parallel sequencing
PHKA2	c.3349G>A, p.Glu1117Lys (CM088312)	doi:10.1038/gim.2015.217	Molecular diagnosis of glycogen storage disease and disorders with overlapping clinical symptoms by massive parallel sequencing
PHKA2	c.1489C>T, p.Arg497Ter (CM034261)	doi:10.1038/gim.2015.217	Molecular diagnosis of glycogen storage disease and disorders with overlapping clinical symptoms by massive parallel sequencing
PHKA2	c.1174C>T, p.Arg392Ter (CM078766)	doi:10.1038/gim.2015.217	Molecular diagnosis of glycogen storage disease and disorders with overlapping clinical symptoms by massive parallel sequencing
PHKA2	c.2387_2388delCT, p.Ser796Trpfs*13	doi:10.1038/gim.2015.217	Molecular diagnosis of glycogen storage disease and disorders with overlapping clinical symptoms by massive parallel sequencing
PHKA2	c.2862_2864delCCT, p.Leu955del	doi:10.1038/gim.2015.217	Molecular diagnosis of glycogen storage disease and disorders with overlapping clinical symptoms by massive parallel sequencing
PHKA2	c.2753delG, p.Gly918Aspfs*2	doi:10.1038/gim.2015.217	Molecular diagnosis of glycogen storage disease and disorders with overlapping clinical symptoms by massive parallel sequencing
SLC37A4	c.81T>A, p.Asn27Lys (CM002021); c.1042_1043delCT p.Leu348Valfs*53 (CD982664)	doi:10.1038/gim.2015.217	Molecular diagnosis of glycogen storage disease and disorders with overlapping clinical symptoms by massive parallel sequencing
PYGL	c.1727G>A, p.Arg576Gln; c.1727G>A, p.Arg576Gln	doi:10.1038/gim.2015.217	Molecular diagnosis of glycogen storage disease and disorders with overlapping clinical symptoms by massive parallel sequencing
ALDOB	9q21.3-q22.2, c.448G>C, p.Ala150Pro (CM880004); c.448G>C, p.Ala150Pro (CM880004)	doi:10.1038/gim.2015.217	Molecular diagnosis of glycogen storage disease and disorders with overlapping clinical symptoms by massive parallel sequencing
LIPA	10q23.2-q23.3, c.398delC, p.Ser133Ter (HD971471); c.894G>A, p.Ser275_Gln298del (CS951467)	doi:10.1038/gim.2015.217	Molecular diagnosis of glycogen storage disease and disorders with overlapping clinical symptoms by massive parallel sequencing
CPT2	1p32, c.338C>T, p.Ser113Leu (CM930171); c.338C>T， p.Ser113Leu (CM930171)	doi:10.1038/gim.2015.217	Molecular diagnosis of glycogen storage disease and disorders with overlapping clinical symptoms by massive parallel sequencing
ANO5	11p14.3, c.191dupA, p.Asn64Lysfs15 (CI101059); c.191dupA, p.Asn64Lysfs15 (CI101059)	doi:10.1038/gim.2015.217	Molecular diagnosis of glycogen storage disease and disorders with overlapping clinical symptoms by massive parallel sequencing
NKX2-5	5q34, c.73C>T, p.Arg25Cys (CM993125); c.73C>T, p.Arg25Cys (CM993125)	doi:10.1038/gim.2015.217	Molecular diagnosis of glycogen storage disease and disorders with overlapping clinical symptoms by massive parallel sequencing

Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:7)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs104894571	7623438	2538	G6PC	umls:C0017919	BeFree	Characterization of the mutations in the glucose-6-phosphatase gene in Israeli patients with glycogen storage disease type 1a: R83C in six Jews and a novel V166G mutation in a Muslim Arab.	0.02193071	1995	G6PC	17	42909353	T	G
rs118203964	10571954	178	AGL	umls:C0017919	BeFree	Glycogen storage disease type IIIa: first report of a causative missense mutation (G1448R) of the glycogen debranching enzyme gene found in a homozygous patient.	0.008805692	1999	AGL;LOC101930120	1	99916492	G	C
rs1801175	7623438	2538	G6PC	umls:C0017919	BeFree	Characterization of the mutations in the glucose-6-phosphatase gene in Israeli patients with glycogen storage disease type 1a: R83C in six Jews and a novel V166G mutation in a Muslim Arab.	0.02193071	1995	G6PC	17	42903947	C	T
rs193302878	19579760	2542	SLC37A4	umls:C0017919	BeFree	Neutropenia had been observed since 6 months of age, but the diagnosis of GSD Ib was established only at 18 months of age two mutations (c.354_355insC (p. W118fsX12) and c.736T>C (p.W246R)) were detected on his SLC37A4 gene.	0.00706742	2009	SLC37A4	11	119026985	A	G
rs193302879	15953877	2542	SLC37A4	umls:C0017919	BeFree	A novel mutation (A148V) in the glucose 6-phosphate translocase (SLC37A4) gene in a Korean patient with glycogen storage disease type 1b.	0.00706742	2005	SLC37A4	11	119027811	G	A
rs193302887	12409273	2542	SLC37A4	umls:C0017919	BeFree	Novel missense mutation (Y24H) in the G6PT1 gene causing glycogen storage disease type 1b.	0.00706742	2002	SLC37A4	11	119029300	A	G
rs80356482	10960498	2538	G6PC	umls:C0017919	BeFree	Glucose-6-phosphatase mutation G188R confers an atypical glycogen storage disease type 1b phenotype.	0.02193071	2000	G6PC	17	42909418	G	A,C

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Disease ID	339
Disease	glycogen storage disease
Case	(Waiting for update.)