Details of Disease | DrugMAP

General Information of Disease (ID: DIS45YLU)

Disease Name	Danon disease
Synonyms	glycogen storage disease type 2b (formerly); glycogen storage disease limited to the heart; vacuolar cardiomyopathy and myopathy, X-linked; lysosomal glycogen storage disease without acid maltase deficiency; GSD2B (formerly); pseudoglycogenosis 2; lysosomal glycogen storage disease without acid maltase deficiency, formerly; X-linked vacuolar cardiomyopathy and myopathy; GSD IIb; glycogen storage disease IIb; glycogen storage disease due to LAMP-2 deficiency; vacuolar cardiomyopathy and myopathy X-linked; Antopol disease; glycogen storage cardiomyopathy; GSD IIb, formerly; lysosomal glycogen storage disease without acid maltase deficiency (formerly); glycogenosis due to LAMP-2 deficiency; ANTOPOL disease; lysosomal glycogen storage disease caused by mutation in LAMP2; Danon disease, X-linked dominant; pseudoglycogenosis II; glycogen storage disease type IIb; LAMP2 lysosomal glycogen storage disease; Danon disease; lysosomal glycogen storage disease with normal acid maltase activity; GSD due to LAMP-2 deficiency
Definition	A lysosomal glycogen storage disease characterized by severe cardiomyopathy and variable degrees of muscle weakness, frequently associated with intellectual deficit.
Disease Hierarchy	DISFHTMU: Lysosomal glycogen storage disease DISYGNOB: Disorder of glycogen metabolism DIS45YLU: Danon disease
Disease Identifiers	MONDO ID MONDO_0010281 MESH ID D052120 UMLS CUI C0878677 OMIM ID 300257 MedGen ID 209235 Orphanet ID 34587 SNOMED CT ID 419097006

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
LAMP2	TTULDG7	Definitive	X-linked	[1]
LAMP2	TTULDG7	Definitive	Genetic Variation	[2]
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This Disease Is Related to 6 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PIK3R4	OTRL8QP8	Limited	Biomarker	[3]
LAMP3	OTN0XL3W	Strong	Genetic Variation	[4]
LSAMP	OTYXVQX2	Strong	Genetic Variation	[4]
MFAP1	OTZN4FT3	Strong	Genetic Variation	[5]
PRKAG2	OTHTAM54	Strong	Genetic Variation	[5]
LAMP2	OTLUGEJC	Definitive	X-linked	[1]
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⏷ Show the Full List of 6 DOT(s)

References

1	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
2	Alu-mediated Xq24 deletion encompassing CUL4B, LAMP2, ATP1B4, TMEM255A, and ZBTB33 genes causes Danon disease in a female patient.Am J Med Genet A. 2020 Jan;182(1):219-223. doi: 10.1002/ajmg.a.61416. Epub 2019 Nov 15.
3	Autophagy dysregulation in Danon disease.Cell Death Dis. 2017 Jan 19;8(1):e2565. doi: 10.1038/cddis.2016.475.
4	LAMP-2B regulates human cardiomyocyte function by mediating autophagosome-lysosome fusion.Proc Natl Acad Sci U S A. 2019 Jan 8;116(2):556-565. doi: 10.1073/pnas.1808618116. Epub 2018 Dec 24.
5	Activation of cardiac hypertrophic signaling pathways in a transgenic mouse with the human PRKAG2 Thr400Asn mutation.Biochim Biophys Acta. 2010 Feb;1802(2):284-91. doi: 10.1016/j.bbadis.2009.12.001. Epub 2009 Dec 11.