MCID: DNN001
MIFTS: 52

Danon Disease malady

Genetic diseases, Rare diseases, Neuronal diseases, Metabolic diseases, Cardiovascular diseases categories

Summaries for Danon Disease

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OMIM:45 Danon disease is an X-linked dominant disorder predominantly affecting cardiac muscle. Skeletal muscle involvement and... (300257) more...

MalaCards based summary: Danon Disease, also known as lysosomal glycogen storage disease with normal acid maltase activity, is related to glycogen storage disease and mental retardation, and has symptoms including gait disturbance, muscle weakness and hypertrophic cardiomyopathy. An important gene associated with Danon Disease is LAMP2 (lysosomal-associated membrane protein 2), and among its related pathways are Galactose metabolism and Hypertrophic cardiomyopathy (HCM). The compounds melibiose and D-Galactose have been mentioned in the context of this disorder. Affiliated tissues include heart, skeletal muscle and brain, and related mouse phenotypes are cardiovascular system and muscle.

Genetics Home Reference:21 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.

NIH Rare Diseases:41 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. last updated: 3/19/2010

Wikipedia:63 Danon disease (or glycogen storage disease Type IIb) is a metabolic disorder. more...

Aliases & Classifications for Danon Disease

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Sources:
45OMIM, 9Disease Ontology, 10diseasecard, 41NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 11DISEASES, 43Novoseek, 47Orphanet, 22GTR, 60UMLS, 33MeSH, 26ICD10 via Orphanet
See all sources

Danon Disease, Aliases & Descriptions:

Name: Danon Disease 45 9 10 41 20 21 11 43 47 22
Lysosomal Glycogen Storage Disease with Normal Acid Maltase Activity 41 47
Glycogen Storage Disease Due to Lamp-2 Deficiency 41 47
Glycogenosis Due to Lamp-2 Deficiency 41 47
Glycogen Storage Disease Type Iib 21 60
Glycogen Storage Disease Type 2b 41 21
Gsd Due to Lamp-2 Deficiency 41 47
Antopol Disease 9 41
Lysosomal Glycogen Storage Disease Without Acid Maltase Deficiency 41
 
Lysosomal Glycogen Storage Disease with Normal Acid Maltase 21
Glycogen Storage Disease Limited to the Heart 41
Vacuolar Cardiomyopathy and Myopathy X-Linked 41
X-Linked Vacuolar Cardiomyopathy and Myopathy 41
Glycogen Storage Cardiomyopathy 41
Pseudoglycogenosis Ii 9
Pseudoglycogenosis 2 41
Gsd2b 41


Classifications:



Characteristics (Orphanet epidemiological data):

47
danon disease:
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: adult


External Ids:

OMIM45 300257
Disease Ontology9 DOID:0050437
MeSH33 D052120
Orphanet47 34587
ICD10 via Orphanet26 E74.0

Related Diseases for Danon Disease

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Graphical network of the top 20 diseases related to Danon Disease:



Diseases related to danon disease

Symptoms for Danon Disease

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Symptoms by clinical synopsis from OMIM:

300257

Clinical features from OMIM:

300257

Symptoms:

 47
  • cardiomyopathy/hypertrophic/dilated
  • collapse/sudden death/cardiac arrest/cardiorespiratory arrest
  • abnormal gait
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • muscle weakness/flaccidity
  • x-linked recessive inheritance

HPO human phenotypes related to Danon Disease:

(show all 26)
id Description Frequency HPO Source Accession
1 gait disturbance hallmark (90%) HP:0001288
2 muscle weakness hallmark (90%) HP:0001324
3 hypertrophic cardiomyopathy hallmark (90%) HP:0001639
4 sudden cardiac death hallmark (90%) HP:0001645
5 cognitive impairment hallmark (90%) HP:0100543
6 intellectual disability 70% HP:0001249
7 visual impairment HP:0000505
8 global developmental delay HP:0001263
9 x-linked dominant inheritance HP:0001423
10 hypertrophic cardiomyopathy HP:0001639
11 cardiomegaly HP:0001640
12 dilated cardiomyopathy HP:0001644
13 myocardial fibrosis HP:0001685
14 myocardial necrosis HP:0001700
15 wolff-parkinson-white syndrome HP:0001716
16 pes cavus HP:0001761
17 hypokinesia HP:0002375
18 elevated serum creatine phosphokinase HP:0003236
19 emg HP:0003458
20 exercise intolerance HP:0003546
21 generalized amyotrophy HP:0003700
22 proximal muscle weakness HP:0003701
23 exercise-induced muscle cramps HP:0003710
24 phenotypic variability HP:0003812
25 arrhythmia HP:0011675
26 cognitive impairment HP:0100543

Drugs & Therapeutics for Danon Disease

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Drug clinical trials:

Search ClinicalTrials for Danon Disease

Search NIH Clinical Center for Danon Disease

Genetic Tests for Danon Disease

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Genetic tests related to Danon Disease:

id Genetic test Affiliating Genes
1 Danon Disease20 22 LAMP2

Anatomical Context for Danon Disease

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MalaCards organs/tissues related to Danon Disease:

31
Heart, Skeletal muscle, Brain, Skin

Animal Models for Danon Disease or affiliated genes

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MGI Mouse Phenotypes related to Danon Disease:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053858.2GAA, GLA, LAMP2, DMD
2MP:00053697.9GAA, GLA, LAMP2, DMD

Publications for Danon Disease

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Articles related to Danon Disease:

(show top 50)    (show all 75)
idTitleAuthorsYear
1
Early onset cardiomyopathy in females with Danon disease. (25900304)
2015
2
LAMP2 flow cytometry in peripheral white blood cells is an established method that facilitates identification of heterozygous Danon disease female patients and mosaic mutation carriers. (25636828)
2015
3
Danon disease: a phenotypic expression of LAMP-2 deficiency. (25589223)
2015
4
Novel LAMP2 mutations in Chinese patients with Danon disease cause varying degrees of clinical severity. (24691104)
2014
5
Early diagnosis of Danon disease: Flow cytometric detection of lysosome-associated membrane protein-2-negative leukocytes. (25458169)
2014
6
Asymptomatic young man with Danon disease. (24955057)
2014
7
Danon disease: clinical features, evaluation, and management. (25228319)
2014
8
Mosaic tissue distribution of the tandem duplication of LAMP2 exons 4 and 5 demonstrates the limits of Danon disease cellular and molecular diagnostics. (23716275)
2014
9
Late profound muscle weakness following heart transplantation due to Danon disease. (23168931)
2013
10
Cystoid macular edema in a patient with Danon disease. (23571262)
2013
11
Morphologic and clinical aspects of Danon disease in a patient with a mutation c.137G &gt; A in the LAMP-2 gene. (23504560)
2013
12
Danon disease : A novel mutation in the LAMP-2 gene and ophthalmic abnormality. (23955649)
2013
13
Danon Disease Due to a Novel LAMP2 Microduplication. (24222494)
2013
14
Lysosomal storage and advanced senescence in the brain of LAMP-2-deficient Danon disease. (23262972)
2013
15
Cardiac magnetic resonance imaging in Danon disease. (22378182)
2012
16
Detection of somatic and germline mosaicism for the LAMP2 gene mutation c.808dupG in a Chinese family with Danon disease. (22750798)
2012
17
Danon disease as a cause of concentric left ventricular hypertrophy in patients who underwent endomyocardial biopsy. (22108829)
2012
18
Incremental value of three-dimensional strain imaging in Danon disease. (22581284)
2012
19
Danon disease: a focus on processing of the novel LAMP2 mutation and comments on the beneficial use of peripheral white blood cells in the diagnosis of LAMP2 deficiency. (22365987)
2012
20
Danon disease: focusing on heart. (22695892)
2012
21
Danon disease: intrafamilial phenotypic variability related to a novel LAMP-2 mutation. (21161685)
2011
22
Danon disease presenting as severe myocardial hypertrophy. (21816855)
2011
23
Natural history of Danon disease. (21415759)
2011
24
Danon disease: characteristic late gadolinium enhancement pattern on cardiac magnetic resonance imaging. (21733342)
2011
25
LAMP2 microdeletions in patients with Danon disease. (20173215)
2010
26
A 13-year-old girl with proximal weakness and hypertrophic cardiomyopathy with Danon disease. (20513107)
2010
27
Utility of real-time 3-dimensional echocardiography and magnetic resonance imaging for evaluation of Danon disease. (20439808)
2010
28
Functional performance and muscle strength phenotypes in men and women with Danon disease. (21104865)
2010
29
A young patient with Danon disease receives two ICD shocks: why? (20230469)
2010
30
Danon disease: further clinical and molecular heterogeneity. (19373884)
2009
31
Novel LAMP-2 mutation in a family with Danon disease presenting with hypertrophic cardiomyopathy. (19057086)
2009
32
Extension of the clinical spectrum of Danon disease. (18413590)
2008
33
Danon disease due to a novel splice mutation in the LAMP2 gene. (18004770)
2008
34
Cardioembolic stroke in Danon disease. (18312451)
2008
35
Danon disease: an unusual presentation of autism. (18555174)
2008
36
Danon disease with typical early-onset cardiomyopathy in a male: focus on a novel LAMP-2 mutation. (18282207)
2008
37
Danon disease: a novel Lamp-2 gene mutation in a family with four affected members. (18061453)
2008
38
Retinopathy in Danon disease. (17296900)
2007
39
Danon disease presenting with dilated cardiomyopathy and a complex phenotype. (17899313)
2007
40
Danon disease as a cause of autophagic vacuolar myopathy. (18377432)
2007
41
LAMP-2 deficiency (Danon disease). (17915578)
2007
42
Danon disease: a case report and literature overview]. (17642461)
2007
43
Generalized lysosome-associated membrane protein-2 defect explains multisystem clinical involvement and allows leukocyte diagnostic screening in Danon disease. (16565504)
2006
44
Ophthalmic manifestations of Danon disease. (16751040)
2006
45
Familial X-linked cardiomyopathy (Danon disease): diagnostic confirmation by mutation analysis of the LAMP2gene. (15889279)
2005
46
Characterization of Danon disease in a male patient and his affected mother. (14561493)
2003
47
Identification of a novel LAMP2 mutation responsible for X-chromosomal dominant Danon disease. (14598234)
2003
48
Germline mosaicism of a novel mutation in lysosome-associated membrane protein-2 deficiency (Danon disease). (12112061)
2002
49
Clinicopathological features of genetically confirmed Danon disease. (12084876)
2002
50
Infantile autophagic vacuolar myopathy is distinct from Danon disease. (11552028)
2001

Variations for Danon Disease

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UniProtKB/Swiss-Prot genetic disease variations for Danon Disease:

62
id Symbol AA change Variation ID SNP ID
1LAMP2p.Trp321ArgVAR_026230

Clinvar genetic disease variations for Danon Disease:

6 (show all 21)
id Gene Variation Type Significance SNP ID Assembly Location
1LAMP2NM_001122606.1(LAMP2): c.463delA (p.Ser155Valfs)deletionLikely pathogenicrs193922649GRCh37Chr X, 119582918: 119582918
2LAMP2NM_001122606.1(LAMP2): c.183T> A (p.Tyr61Ter)single nucleotide variantLikely pathogenicrs397516736GRCh37Chr X, 119590506: 119590506
3LAMP2NM_001122606.1(LAMP2): c.183T> G (p.Tyr61Ter)single nucleotide variantLikely pathogenicrs397516736GRCh37Chr X, 119590506: 119590506
4LAMP2NM_001122606.1(LAMP2): c.191delT (p.Val64Glufs)deletionLikely pathogenicrs397516738GRCh37Chr X, 119589418: 119589418
5LAMP2NM_001122606.1(LAMP2): c.217dupA (p.Thr73Asnfs)duplicationLikely pathogenicrs397516739GRCh37Chr X, 119589391: 119589392
6LAMP2NM_001122606.1(LAMP2): c.293G> A (p.Trp98Ter)single nucleotide variantLikely pathogenicrs397516740GRCh37Chr X, 119589316: 119589316
7LAMP2NM_001122606.1(LAMP2): c.65-2A> Gsingle nucleotide variantPathogenicrs397516743GRCh37Chr X, 119590626: 119590626
8LAMP2NM_002294.2(LAMP2): c.864+3_864+6delGAGTdeletionLikely pathogenicrs397516751GRCh37Chr X, 119580154: 119580157
9LAMP2NM_001122606.1(LAMP2): c.865-1G> Csingle nucleotide variantLikely pathogenicrs397516752GRCh37Chr X, 119576518: 119576518
10LAMP2LAMP2, 2-BP DEL, 1097AAdeletionPathogenic
11LAMP2NM_001122606.1(LAMP2): c.440T> A (p.Leu147Ter)single nucleotide variantPathogenicrs137852527GRCh37Chr X, 119582941: 119582941
12LAMP2LAMP2, IVS6, G-C, +5single nucleotide variantPathogenic
13LAMP2LAMP2, 1-BP INS, 974AinsertionPathogenic
14LAMP2LAMP2, IVS5, G-A, +1single nucleotide variantPathogenic
15LAMP2LAMP2, 1-BP DEL, 14GdeletionPathogenic
16LAMP2LAMP2, 1-BP INS, 883TinsertionPathogenic
17LAMP2LAMP2, 7-BP DELdeletionPathogenic
18LAMP2NM_001122606.1(LAMP2): c.520C> T (p.Gln174Ter)single nucleotide variantPathogenicrs104894857GRCh37Chr X, 119582861: 119582861
19LAMP2NM_001122606.1(LAMP2): c.928G> A (p.Val310Ile)single nucleotide variantPathogenicrs104894858GRCh37Chr X, 119576454: 119576454
20LAMP2NM_001122606.1(LAMP2): c.961T> C (p.Trp321Arg)single nucleotide variantPathogenicrs104894859GRCh37Chr X, 119575717: 119575717
21LAMP2LAMP2, 1-BP DEL, 1219AdeletionPathogenic

Expression for genes affiliated with Danon Disease

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Search GEO for disease gene expression data for Danon Disease.

Pathways for genes affiliated with Danon Disease

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Pathways related to Danon Disease according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
UDP-N-acetyl-D-galactosamine biosynthesis I36
galactose degradation I (Leloir pathway)36
Cori Cycle36
9.4GAA, GLA
2
Show member pathways
Arrhythmogenic right ventricular cardiomyopathy36
9.2PRKAG2, DMD
39.1GAA, GLA, LAMP2

Compounds for genes affiliated with Danon Disease

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Sources:
43Novoseek, 24HMDB, 59Tocris Bioscience, 12DrugBank
See all sources

Compounds related to Danon Disease according to GeneCards Suite gene sharing:

(show all 16)
idCompoundScoreTop Affiliating Genes
1melibiose43 2410.7GAA, GLA
2D-Galactose249.7GLA, GAA
31-deoxynojirimycin59 43 1211.7GAA, GLA
4maltose43 1210.7GAA, GLA
5dextran439.7GLA, LAMP2
6D-Glucose249.6GLA, GAA
7n-acetyllactosamine43 2410.6GLA, LAMP2
8gold439.1DMD, GAA
9mannose439.1GAA, GLA
10glycerol43 24 1211.0GLA, DMD
11mannose 6-phosphate43 249.8MPP2, LAMP2, GLA, GAA
12creatinine438.7DMD, GLA, GAA
13arginine438.6GAA, GLA, DMD
14sucrose43 24 1210.5DMD, LAMP2, GLA, GAA
15glucose438.2DMD, MPP2, GLA, GAA
16glycogen43 248.6GAA, GLA, PRKAG2, LAMP2, MPP2, DMD

GO Terms for genes affiliated with Danon Disease

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Cellular components related to Danon Disease according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1lysosomeGO:00057648.5GAA, GLA, LAMP2, VMA21

Biological processes related to Danon Disease according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1muscle organ developmentGO:00075179.2GAA, DMD
2cardiac muscle contractionGO:00600488.9GAA, DMD

Products for genes affiliated with Danon Disease

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Danon Disease

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet