Danon Disease malady

NIH Rare Diseases: Danon disease is a type of lysosomal storage disorder. Lysosomes are compartments within the cell that use enzymes to break down large molecules into smaller ones that the cell can use. In Danon disease there is a defect in the wall (membrane) of the lysosome. The defect is caused by mutations in the LAMP2 gene. Danon disease is chiefly characterized by cardiomyopathy (heart disease), although other signs and symptoms may occur as well. Danon disease is inherited in an X-linked fashion, as a result males tend to be more severely affected than females. Females who carry the LAMP2 gene mutation may or may not develop signs and symptoms.³⁰

MalaCards: Danon Disease, also known as x-linked vacuolar cardiomyopathy and myopathy, is related to lysosomal storage disease and glycogen storage disease. An important gene associated with Danon Disease is LAMP2 (lysosomal-associated membrane protein 2), and among its related pathways are Galactose metabolism and Lysosome. The compounds melibiose and 1-deoxynojirimycin have been mentioned in the context of this disorder. Affiliated tissues include heart and skeletal muscle.

Genetics Home Reference: Danon disease is a condition characterized by weakening of the heart muscle (cardiomyopathy); weakening of the muscles used for movement, called skeletal muscles, (myopathy); and intellectual disability. Males with Danon disease usually develop the condition earlier than females and are more severely affected. Signs and symptoms begin in childhood or adolescence in most affected males and in early adulthood in most affected females. Affected males, on average, live to age 19, while affected females live to an average age of 34.¹⁷

Wikipedia: Danon disease (or glycogen storage disease Type IIb) is a metabolic disorder.⁴⁴ more...

OMIM: 300257

Aliases & Descriptions:

danon disease 6 30 16 17 8 32 43 x-linked vacuolar cardiomyopathy and myopathy 30 16 glycogen storage disease type 2b 30 17 glycogen storage disease iib 16 33 antopol disease 6 30 gsd2b 30 16 lysosomal glycogen storage disease without acid maltase deficiency 30 lysosomal glycogen storage disease with normal acid maltase 17 glycogen storage disease limited to the heart 30

vacuolar cardiomyopathy and myopathy x-linked 30 glycogen storage disease type iib 17 glycogen storage cardiomyopathy 30 lysosomal storage diseases 43 pseudoglycogenosis ii 6 pseudoglycogenosis 2 30 cardiomyopathies 43 gsd-iib 16

Diseases related to danon disease by text searches and GeneDecks gene sharing:

(show top 50)    (show all 329)

id	Related Disease	Score	Top Affiliating Genes
1	lysosomal storage disease	36.4	GLA, GAA
2	glycogen storage disease	33.1	GAA, GLA, MPP2, LAMP2, PRKAG2, VMA21
3	muscular dystrophy	31.4	GAA, DMD
4	dmd-associated dilated cardiomyopathy	31.3	GAA, MPP2, LAMP2, DMD
5	mucopolysaccharidosis	30.4	GLA, GAA
6	gaucher's disease	30.0	LAMP1, GLA
7	myopathy	29.6	DMD, LAMP2, MPP2, VMA21, GAA
8	fabry disease	29.0	PRKAG2, GLA
9	vacuolar myopathy	28.3	LAMP2, VMA21, MPP2, GAA, DMD
10	hypertrophic cardiomyopathy	27.5	MPP2, PRKAG2, LAMP2, GLA, DMD, GAA
11	arrhythmogenic right ventricular dysplasia/cardiomyopathy multi-gene panels	26.8	GLA, DMD, PRKAG2
12	limb-girdle muscular dystrophy	26.4	GAA, DMD
13	noonan syndrome	26.3	MPP2, GAA, PRKAG2, GLA, DMD, LAMP2
14	spinal muscular atrophy	25.6	GAA, DMD
15	duchenne muscular dystrophy	25.5	GAA, DMD
16	congenital heart defect	24.8	DMD, GLA, GAA
17	x-linked myopathy with excessive autophagy	12.9	GAA, VMA21
18	facioscapulohumeral muscular dystrophy	12.9	DMD, GAA
19	rigid spine syndrome	12.9	GAA, DMD
20	glycogen storage disease ii	12.9	GAA, VMA21
21	distal muscular dystrophy	12.9	DMD, GAA
22	myopathy congenital	12.8	GAA, DMD
23	salla disease	12.7	LAMP1, LAMP2
24	neuromuscular disease	12.6	DMD, GAA
25	chediak-higashi syndrome	12.6	LAMP2, LAMP1
26	protein s deficiency	12.5	DMD, GAA, LAMP2
27	hermansky-pudlak syndrome	12.4	LAMP1, LAMP2
28	cramps	12.3	GLA, DMD
29	lysosomal acid phosphatase deficiency	12.3	LAMP1, LAMP2, GAA
30	mental retardation syndrome	12.2	DMD, MPP2, LAMP2, GAA
31	mayer-rokitansky-kuster-hauser syndrome	12.2	DMD, GLA, GAA
32	pilocytic astrocytoma	12.0	LAMP1, LAMP2
33	twinning	11.9	LAMP2, DMD, GLA, GAA
34	hemangioma	11.7	GLA, LAMP1, LAMP2, GAA
35	glycogen storage disease type 1b	11.5
36	hypertrophy of breast	11.5	GAA, PRKAG2, GLA, LAMP2, DMD
37	familial hypertrophic cardiomyopathy	10.5
38	restrictive cardiomyopathy	9.1
39	familial dilated cardiomyopathy	8.8
40	cardiomyopathy	8.8
41	myocarditis	8.7
42	arrhythmogenic right ventricular dysplasia	8.6
43	aspartylglucosaminuria	8.2
44	mucopolysaccharidosis vii	8.2
45	chagas disease	7.9
46	stress cardiomyopathy	7.8
47	familial amyloid cardiomyopathy	7.7
48	familial restrictive cardiomyopathy	7.7
49	peripartum cardiomyopathy	7.7
50	alcoholic cardiomyopathy	7.7

Clinical features from OMIM: 300257

Approved drugs:

Drug clinical trials:

Genetic tests related to danon disease:

id	Genetic test	Affiliating Genes
1	Danon Disease clinical/research	LAMP2

MalaCards organs/tissues related to danon disease:

²²

Articles related to danon disease:

(show all 32)

id	Title	Authors	Year	Affiliating Genes
1	Danon disease: intrafamilial phenotypic variability r elated to a novel LAMP-2 mutation. (21161685)	Cottinet S.L.... Labarthe F.	2011	LAMP2
2	A 13-year-old girl with proximal weakness and hypertr ophic cardiomyopathy with Danon disease. (20513107)	Kim H.... Chae J.H.	2010	LAMP2, MPP2
3	LAMP2 microdeletions in patients with Danon disease. (20173215)	Yang Z.... Vatta M.	2010	LAMP2
4	Danon disease: Further clinical and molecular heterogeneity. (19373884)	Sabourdy F.... Levade T.	2009	GLA
5	Novel LAMP-2 mutation in a family with Danon disease presenting with hypertrophic cardiomyopathy. (19057086)	Dougu N.... Inoue H.	2009	LAMP2, MPP2
6	Danon disease due to a novel splice mutation in the LAMP2 gene. (18004770)	Nadeau A.... Sinnreich M.	2008	LAMP2, MPP2
7	Danon disease: an unusual presentation of autism. (18555174)	Burusnukul P.... Boue D.R.	2008	MPP2
8	Pacemaker malfunctions in Danon's disease. (18181922)	Marras E.... Delise P.	2008	MPP2
9	Danon disease with typical early-onset cardiomyopathy in a male: focus on a novel LAMP-2 mutation. (18282207)	Bui Y.K.... Alejos J.C.	2008	LAMP2
10	Danon disease: a novel Lamp-2 gene mutation in a family with four affected members. (18061453)	Tunon T.... Imizcoz M.A.	2008	LAMP2
11	Morphological and clinical aspects of Danon disease (18393115)	Fidzianska A.... Kuch M.	2008	LAMP2
12	Danon disease: A novel LAMP2 mutation affecting the pre-mRNA splicing and causing aberrant transcripts and partial protein expression. (18990578)	Di Blasi C.... Mora M.	2008	LAMP2, MPP2
13	Danon disease as a cause of autophagic vacuolar myopathy. (18377432)	Yang Z.... Vatta M.	2007	LAMP2, MPP2
14	Retinopathy in Danon disease. (17296900)	Schorderet D.F.... Munier F.L.	2007	LAMP2, MPP2
15	Danon disease presenting with dilated cardiomyopathy and a complex phenotype. (17899313)	Taylor M.R.... Mestroni L.	2007	LAMP2, DMD, MPP2
16	Danon disease: a case report and literature overview (17642461)	Catovic S.... Otasevic P.	2007	LAMP2, MPP2
17	Novel Lamp-2 gene mutation and successful treatment with heart transplantation in a large family with Danon disease. (16372318)	Echaniz-Laguna A.... Tranchant C.	2006	LAMP2, MPP2
18	Generalized lysosome-associated membrane protein-2 defect explains multisystem clinical involvement and allows leukocyte diagnostic screening in Danon disease. (16565504)	Fanin M.... Angelini C.	2006	LAMP2, MPP2
19	Danon disease as an underrecognized cause of hypertrophic cardiomyopathy in children. (16144992)	Yang Z.... Bowles N.E.	2005	LAMP2
20	Autophagic vacuoles with sarcolemmal features delinea te Danon disease and related myopathies. (15977643)	Sugie K.... Nishino I.	2005	VMA21
21	Familial X-linked cardiomyopathy (Danon disease): diagnostic confirmation by mutation analysis of the LAMP2gene. (15889279)	Balmer C.... Superti-Furga A.	2005	LAMP2, MPP2
22	Asymptomatic hyperCKemia in a case of Danon disease due to a missense mutation in Lamp-2 gene. (15907287)	Musumeci O.... Toscano A.	2005	LAMP2
23	Morphological, clinical and genetic aspects in a family with a novel LAMP-2 gene mutation (Danon disease). (15792868)	Lobrinus J.A.... Jeannet P.Y.	2005	LAMP2
24	Danon's disease as a cause of hypertrophic cardiomyopathy: a systematic survey. (15253947)	Charron P.... Komajda M.	2004	LAMP2
25	Characterization of Danon disease in a male patient and his affected mother. (14561493)	Sugie K.... Nishino I.	2003	LAMP2
26	Identification of a novel LAMP2 mutation responsible for X-chromosomal dominant Danon disease. (14598234)	Horvath J.... Omran H.	2003	LAMP2
27	Danon's disease (X-linked vacuolar cardiomyopathy and myopathy): a case with a novel Lamp-2 gene mutation. (12398843)	Lacoste-Collin L.... Delisle M.B.	2002	GAA, LAMP2
28	Disease model: LAMP-2 enlightens Danon disease. (11427988)	Saftig P.... von Figura K.	2001	LAMP2, MPP2
29	Infantile autophagic vacuolar myopathy is distinct from Danon disease. (11552028)	Yamamoto A.... Nishino I.	2001	LAMP2
30	Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease). (10972294)	Nishino I.... Hirano M.	2000	LAMP2
31	Lysosomal glycogen storage disease without acid maltase deficiency (Danon's disease) (9645081)	Usuki F.	1998	GAA
32	Morphologic findings in biopsied skeletal muscle and cultured fibroblasts from a female patient with Danon's disease (lysosomal glycogen storage disease without acid maltase deficiency). (7699392)	Usuki F.... Osame M.	1994	GAA

Genes related to danon disease according to GeneCards:

id	Symbol	Description	Score	GeneCards Section Context
1	LAMP2	lysosomal-associated membrane protein 2	11.0	Publications
2	MPP2	membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2)	11.0	Publications
3	GAA	glucosidase, alpha; acid	11.0	Publications
4	PRKAG2	protein kinase, AMP-activated, gamma 2 non-catalytic subunit	11.0	Disorders
5	VMA21	VMA21 vacuolar H+-ATPase homolog (S. cerevisiae)	11.0	Publications
6	LAMP1	lysosomal-associated membrane protein 1	11.0
7	GLA	galactosidase, alpha	11.0	Publications
8	DMD	dystrophin	11.0	Publications

Pathways related to danon disease according to GeneDecks:

id	Pathway	Score	Top Affiliating Genes
1	Galactose metabolism20	9.2	GLA, GAA
2	Lysosome20	8.0	LAMP1, LAMP2, GLA, GAA

Compounds related to danon disease according to GeneDecks:

(show all 11)

id	Compound	Score	Top Affiliating Genes
1	melibiose32 18	10.4	GLA, GAA
2	1-deoxynojirimycin32 42 9 9	12.4	GLA, GAA
3	maltose32 9 9	11.2	GAA, GLA
4	dextran32	9.2	LAMP2, GLA
5	ganglioside32	9.0	LAMP1, GLA
6	n-acetyllactosamine32 18	9.9	GLA, LAMP2, LAMP1
7	mannose32	8.7	LAMP1, GLA, GAA
8	mannose 6-phosphate32 18	9.1	LAMP1, LAMP2, MPP2, GLA, GAA
9	glucose32	8.0	MPP2, GLA, DMD, GAA
10	sucrose32 9 18 9	11.0	LAMP1, LAMP2, GLA, DMD, GAA
11	glycogen32 18	8.8	GAA, PRKAG2, DMD, GLA, MPP2, LAMP2

Cellular components related to danon disease according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	late endosome	GO:005770	9.5	LAMP1, LAMP2
2	sarcolemma	GO:042383	9.0	LAMP1, DMD
3	lysosomal membrane	GO:005765	9.0	GAA, LAMP2, LAMP1
4	lysosome	GO:005764	7.8	VMA21, LAMP1, LAMP2, GLA, GAA