Details of Disease

General Information of Disease (ID: DISXZPBC)

Disease Name	Glycogen storage disease type II
Synonyms	Cardiomegalia Glycogenica diffusa; glycogenosis, generalized, Cardiac form; Alpha-1,4-glucosidase deficiency; glycogen storage disease 2; acid maltase deficiency disease; deficiency of lysosomal alpha-glucosidase; GAA deficiency; GSD2; GSD 2; glycogen storage disease due to acid maltase deficiency; GSD II; deficiency of alpha-glucosidase; Aglucosidase alfa; glucosidase acid-1,4-alpha deficiency; GSD type 2; GAA glycogen storage disease; glycogenosis due to acid maltase deficiency; deficiency of maltase; lysosomal alpha-1,4-glucosidase deficiency; Pompe Disease; deficiency of glucoamylase; generalized glycogenosis; Pompe's disease; glycogen storage disease type 2; generalised glycogenosis; glycogenosis type II; glycogenosis type 2; glycogen storage disease II; GSD type II; Pompe disease; acid maltase deficiency; glycogenosis, type 2; Alpha-1,4-glucosidase acid deficiency; glycogen storage disease caused by mutation in GAA; glycogen storage disease, type II; GSD due to acid maltase deficiency; glycogen storage disease type II
Disease Class	5C51: Inborn carbohydrate metabolism error
Definition	Glycogen storage disease due to acid maltase deficiency (AMD) is an autosomal recessive trait leading to metabolic myopathy that affects cardiac and respiratory muscles in addition to skeletal muscle and other tissues. AMD represents a wide spectrum of clinical presentations caused by an accumulation of glycogen in lysosomes: Glycogen storage disease due to acid maltase deficiency, infantile onset, non-classic infantile onset and adult onset. Early onset forms are more severe and often fatal.
Disease Hierarchy	DISL4MMU: Familial restrictive cardiomyopathy DISFHTMU: Lysosomal glycogen storage disease DISYGNOB: Disorder of glycogen metabolism DISXZPBC: Glycogen storage disease type II
ICD Code	ICD-11 ICD-11: 5C51.3
Disease Identifiers	MONDO ID MONDO_0009290 MESH ID D006009 UMLS CUI C0017921 OMIM ID 232300 MedGen ID 5340 Orphanet ID 365 SNOMED CT ID 274864009

Drug-Interaction Atlas (DIA) of This Disease

Drug-Interaction Atlas (DIA)

This Disease is Treated as An Indication in 1 Approved Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
Cipaglucosidase alfa	DMAPDH2	Approved in EU	Enzyme replacement	[1]
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This Disease is Treated as An Indication in 1 Clinical Trial Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
AT845	DMZJIIB	Phase 2	Gene therapy	[2]
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Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 22 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
ARSB	TTESQTG	Limited	Biomarker	[3]
CFI	TT6ATLX	Limited	Altered Expression	[4]
IDS	TTNY2AP	Limited	Biomarker	[5]
IKZF2	TTKT5NV	Limited	Biomarker	[6]
PGF	TT48I1Y	Limited	Altered Expression	[7]
SERPINF1	TTR59S1	Limited	Biomarker	[8]
G6PC	TTBQMJ8	Disputed	Biomarker	[9]
CCR2	TTFZYTO	moderate	Altered Expression	[10]
CFB	TTA0P7K	moderate	Genetic Variation	[11]
CNTF	TTGEM5Q	moderate	Biomarker	[12]
FECH	TTQ6VF4	moderate	Altered Expression	[13]
TEC	TT1ZV49	moderate	Biomarker	[14]
AMD1	TTBFROQ	Strong	Biomarker	[15]
CX3CR1	TT2T98G	Strong	Biomarker	[10]
GALC	TT5IZRB	Strong	Biomarker	[16]
GLA	TTIS03D	Strong	Altered Expression	[17]
IDUA	TT0IUKX	Strong	Biomarker	[18]
IGF2R	TTPNE41	Strong	Biomarker	[19]
MAN2B1	TTC12RO	Strong	Altered Expression	[20]
SERPING1	TTVQ6R9	Strong	Biomarker	[21]
TNNT2	TTWAS18	Strong	Biomarker	[22]
GAA	TTLPC70	Definitive	Autosomal recessive	[23]
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⏷ Show the Full List of 22 DTT(s)

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC16A8	DT39AOM	Limited	Altered Expression	[24]
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This Disease Is Related to 7 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
UGT1A10	DEL5N6Y	Limited	Altered Expression	[25]
UGT1A3	DEF2WXN	Limited	Altered Expression	[25]
UGT1A4	DELOY3P	Limited	Altered Expression	[25]
UGT1A5	DEPF954	Limited	Altered Expression	[25]
UGT1A6	DESD26P	Limited	Altered Expression	[25]
UGT1A8	DE2GB8N	Limited	Altered Expression	[25]
UGT1A9	DE85D2P	Limited	Altered Expression	[25]
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⏷ Show the Full List of 7 DME(s)

This Disease Is Related to 33 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ACAD10	OTFAG3M0	Limited	Genetic Variation	[26]
AGL	OTWBM7WY	Limited	Genetic Variation	[27]
ARIH2	OTJYJQJ8	Limited	Biomarker	[28]
CCDC40	OTFHEUUN	Limited	Genetic Variation	[29]
COL8A1	OTWBTED2	Limited	Genetic Variation	[30]
GYG1	OT9PU6I2	Limited	Altered Expression	[31]
LIPC	OTZY5SC9	Limited	Biomarker	[24]
ND5	OT45LW1K	Limited	Genetic Variation	[32]
NELFE	OTL4E94L	Limited	Genetic Variation	[11]
PIK3R4	OTRL8QP8	Limited	Biomarker	[33]
PRPH2	OTNH2G5H	Limited	Biomarker	[34]
RPE	OT0XT3JU	Limited	Biomarker	[35]
C1QTNF5	OTLKU5I2	moderate	Genetic Variation	[36]
CIAO3	OT0V91PK	moderate	Altered Expression	[37]
CXCL6	OTFTCQ4O	moderate	Biomarker	[38]
FKBPL	OTR9ND6K	moderate	Genetic Variation	[39]
SEMA3E	OTD4S36H	moderate	Biomarker	[40]
TFR2	OTMYCCEO	moderate	Posttranslational Modification	[41]
TNXB	OTVBWAV5	moderate	Genetic Variation	[39]
ACTN3	OT9DZ7JQ	Strong	Genetic Variation	[42]
ARMS2	OTUXHJ9H	Strong	Genetic Variation	[4]
CFHR2	OTACE5Y1	Strong	Biomarker	[43]
CFHR4	OTWXGQMU	Strong	Biomarker	[43]
ELF3	OTUTLEQO	Strong	Biomarker	[44]
ELOVL4	OT2M9W26	Strong	Genetic Variation	[45]
GBE1	OTK2N05B	Strong	Biomarker	[46]
PLEKHA1	OT66PF24	Strong	Genetic Variation	[43]
PLXNA2	OTNNBJMQ	Strong	Biomarker	[47]
PRKAG2	OTHTAM54	Strong	Genetic Variation	[48]
SLURP1	OT89YD2E	Strong	Genetic Variation	[49]
TFEB	OTJUJJQY	Strong	Altered Expression	[33]
ARMC9	OT0MZER2	Definitive	Biomarker	[50]
GAA	OT03PU29	Definitive	Autosomal recessive	[23]
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⏷ Show the Full List of 33 DOT(s)

References

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