MCID: DNN001
MIFTS: 46

Danon Disease malady

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

Aliases & Classifications for Danon Disease

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Aliases & Descriptions for Danon Disease:

Name: Danon Disease 49 10 11 45 22 23 47 12 24 67
Glycogen Storage Disease Type Iib 23 65 36
Glycogen Storage Disease Type 2b 45 22 23
Lysosomal Glycogen Storage Disease Without Acid Maltase Deficiency 45 67
Vacuolar Cardiomyopathy and Myopathy X-Linked 45 67
X-Linked Vacuolar Cardiomyopathy and Myopathy 45 22
Pseudoglycogenosis Ii 10 67
Antopol Disease 10 45
 
Gsd-Iib 22 67
Gsd2b 45 67
Lysosomal Glycogen Storage Disease with Normal Acid Maltase 23
Glycogen Storage Disease Limited to the Heart 45
Glycogen Storage Cardiomyopathy 45
Glycogen Storage Disease Iib 67
Pseudoglycogenosis 2 45
Dand 67


Classifications:



External Ids:

OMIM49 300257
Disease Ontology10 DOID:0050437
MeSH36 D052120
MedGen34 C0878677

Summaries for Danon Disease

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OMIM:49 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 glycogen storage disease type iib, is related to glycogen storage disease and cardiomyopathy, 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 is Lysosome. Affiliated tissues include heart, skeletal muscle and skin.

NIH Rare Diseases:45 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

Genetics Home Reference:23 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.

UniProtKB/Swiss-Prot:67 Danon disease: DAND is a lysosomal glycogen storage disease characterized by the clinical triad of cardiomyopathy, vacuolar myopathy and mental retardation. It is often associated with an accumulation of glycogen in muscle and lysosomes.

Related Diseases for Danon Disease

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Graphical network of 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

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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Interventional clinical trials:

idNameStatusNCT IDPhase
1Safety and Efficacy Study of Deep Transcranial Magnetic Stimulation in Bipolar DepressionRecruitingNCT01566591Phase 3
2Remote Monitoring and Support for Patients With Schizophrenia, Schizoaffective or Bipolar Disorder on AdherenceNot yet recruitingNCT02665611

Search NIH Clinical Center for Danon Disease


Cochrane evidence based reviews: Glycogen Storage Disease Type IIb

Genetic Tests for Danon Disease

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Genetic tests related to Danon Disease:

id Genetic test Affiliating Genes
1 Danon Disease22 24 LAMP2

Anatomical Context for Danon Disease

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MalaCards organs/tissues related to Danon Disease:

33
Heart, Skeletal muscle, Skin, Brain

Animal Models for Danon Disease or affiliated genes

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Publications for Danon Disease

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Articles related to Danon Disease:

(show top 50)    (show all 77)
idTitleAuthorsYear
1
Early onset cardiomyopathy in females with Danon disease. (25900304)
2015
2
Danon disease and a new mutation of the LAMP-2 gene in a Spanish family. (26385016)
2015
3
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
4
Danon disease: a rare cause of left ventricular hypertrophy with cardiac magnetic resonance follow-up. (26206213)
2015
5
Danon disease: a phenotypic expression of LAMP-2 deficiency. (25589223)
2015
6
Novel LAMP2 mutations in Chinese patients with Danon disease cause varying degrees of clinical severity. (24691104)
2014
7
Early diagnosis of Danon disease: Flow cytometric detection of lysosome-associated membrane protein-2-negative leukocytes. (25458169)
2014
8
Asymptomatic young man with Danon disease. (24955057)
2014
9
Danon disease: clinical features, evaluation, and management. (25228319)
2014
10
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
11
Late profound muscle weakness following heart transplantation due to Danon disease. (23168931)
2013
12
Cystoid macular edema in a patient with Danon disease. (23571262)
2013
13
Morphologic and clinical aspects of Danon disease in a patient with a mutation c.137G > A in the LAMP-2 gene. (23504560)
2013
14
Danon disease : A novel mutation in the LAMP-2 gene and ophthalmic abnormality. (23955649)
2013
15
Danon Disease Due to a Novel LAMP2 Microduplication. (24222494)
2013
16
Lysosomal storage and advanced senescence in the brain of LAMP-2-deficient Danon disease. (23262972)
2013
17
Cardiac magnetic resonance imaging in Danon disease. (22378182)
2012
18
Detection of somatic and germline mosaicism for the LAMP2 gene mutation c.808dupG in a Chinese family with Danon disease. (22750798)
2012
19
Danon disease as a cause of concentric left ventricular hypertrophy in patients who underwent endomyocardial biopsy. (22108829)
2012
20
Incremental value of three-dimensional strain imaging in Danon disease. (22581284)
2012
21
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
22
Danon disease: intrafamilial phenotypic variability related to a novel LAMP-2 mutation. (21161685)
2011
23
Danon disease presenting as severe myocardial hypertrophy. (21816855)
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:

67
id Symbol AA change Variation ID SNP ID
1LAMP2p.Trp321ArgVAR_026230

Clinvar genetic disease variations for Danon Disease:

5 (show all 45)
id Gene Variation Type Significance SNP ID Assembly Location
1LAMP2NM_002294.2(LAMP2): c.877C> T (p.Arg293Ter)single nucleotide variantPathogenicrs727503118GRCh37Chr X, 119576505: 119576505
2LAMP2NM_002294.2(LAMP2): c.864+1G> Tsingle nucleotide variantPathogenicrs727503119GRCh37Chr X, 119580159: 119580159
3LAMP2NM_002294.2(LAMP2): c.183+1G> Asingle nucleotide variantLikely pathogenicrs727503120GRCh37Chr X, 119590505: 119590505
4LAMP2NM_002294.2(LAMP2): c.929-1G> Asingle nucleotide variantLikely pathogenicrs727504262GRCh37Chr X, 119575750: 119575750
5LAMP2NM_002294.2(LAMP2): c.128_129dupAT (p.Ala44Metfs)duplicationLikely pathogenicrs730880344GRCh37Chr X, 119590560: 119590561
6LAMP2NM_002294.2(LAMP2): c.999delA (p.Glu334Serfs)deletionLikely pathogenicrs727504557GRCh37Chr X, 119575679: 119575679
7LAMP2NM_002294.2(LAMP2): c.1020delT (p.Gly341Glufs)deletionPathogenicrs727504597GRCh37Chr X, 119575658: 119575658
8LAMP2NM_002294.2(LAMP2): c.121delT (p.Cys41Alafs)deletionPathogenicrs727504600GRCh37Chr X, 119590568: 119590568
9LAMP2NM_002294.2(LAMP2): c.851_852delTT (p.Phe284Cysfs)deletionPathogenicrs727504648GRCh37Chr X, 119580172: 119580173
10LAMP2NM_002294.2(LAMP2): c.1093+1G> Asingle nucleotide variantPathogenicrs727504742GRCh37Chr X, 119575584: 119575584
11LAMP2NC_000023.11: g.(?_120431323)_(120441894_?)deldeletionLikely pathogenicGRCh37Chr X, 119565178: 119575749
12LAMP2NM_002294.2(LAMP2): c.183+5G> Asingle nucleotide variantLikely pathogenicrs730880479GRCh37Chr X, 119590501: 119590501
13LAMP2NM_002294.2(LAMP2): c.737A> G (p.Asp246Gly)single nucleotide variantLikely pathogenicrs730880482GRCh38Chr X, 120447845: 120447845
14LAMP2NM_002294.2(LAMP2): c.795C> A (p.Cys265Ter)single nucleotide variantPathogenicrs730880483GRCh37Chr X, 119580229: 119580229
15LAMP2NM_002294.2(LAMP2): c.864+1G> Asingle nucleotide variantPathogenicrs727503119GRCh38Chr X, 120446304: 120446304
16LAMP2NM_002294.2(LAMP2): c.864+2T> Csingle nucleotide variantPathogenicrs730880485GRCh37Chr X, 119580158: 119580158
17LAMP2NM_002294.2(LAMP2): c.887T> C (p.Leu296Pro)single nucleotide variantLikely pathogenicrs730880486GRCh37Chr X, 119576495: 119576495
18LAMP2NM_002294.2(LAMP2): c.64+2T> Asingle nucleotide variantPathogenicrs730880490GRCh38Chr X, 120469104: 120469104
19LAMP2NM_002294.2: c.183+2insTinsertionPathogenic
20LAMP2NM_002294.2(LAMP2): c.536delA (p.Asn179Metfs)deletionPathogenicrs730880491GRCh37Chr X, 119582845: 119582845
21LAMP2NM_002294.2(LAMP2): c.588_589insCAACA (p.Val197Glnfs)insertionPathogenicrs730880492GRCh38Chr X, 120447993: 120447994
22LAMP2NM_001122606.1(LAMP2): c.651dupA (p.Pro218Thrfs)duplicationPathogenicrs730880493GRCh37Chr X, 119581786: 119581786
23LAMP2NM_002294.2(LAMP2): c.65-1G> Csingle nucleotide variantPathogenicrs730880496GRCh38Chr X, 120456770: 120456770
24LAMP2NM_002294.2(LAMP2): c.974delT (p.Leu325Argfs)deletionPathogenicrs730880498GRCh37Chr X, 119575704: 119575704
25LAMP2NM_002294.2(LAMP2): c.463delA (p.Ser155Valfs)deletionLikely pathogenicrs193922649GRCh37Chr X, 119582918: 119582918
26LAMP2NM_001122606.1(LAMP2): c.183T> A (p.Tyr61Ter)single nucleotide variantLikely pathogenicrs397516736GRCh37Chr X, 119590506: 119590506
27LAMP2NM_001122606.1(LAMP2): c.183T> G (p.Tyr61Ter)single nucleotide variantLikely pathogenicrs397516736GRCh37Chr X, 119590506: 119590506
28LAMP2NM_001122606.1(LAMP2): c.191delT (p.Val64Glufs)deletionLikely pathogenicrs397516738GRCh37Chr X, 119589418: 119589418
29LAMP2NM_001122606.1(LAMP2): c.217dupA (p.Thr73Asnfs)duplicationLikely pathogenicrs397516739GRCh37Chr X, 119589392: 119589392
30LAMP2NM_002294.2(LAMP2): c.293G> A (p.Trp98Ter)single nucleotide variantLikely pathogenic, Pathogenicrs397516740GRCh37Chr X, 119589316: 119589316
31LAMP2NM_002294.2(LAMP2): c.65-2A> Gsingle nucleotide variantPathogenicrs397516743GRCh37Chr X, 119590626: 119590626
32LAMP2NM_002294.2(LAMP2): c.864+3_864+6delGAGTdeletionLikely pathogenic, Pathogenicrs397516751GRCh37Chr X, 119580154: 119580157
33LAMP2NM_002294.2(LAMP2): c.865-1G> Csingle nucleotide variantLikely pathogenicrs397516752GRCh37Chr X, 119576518: 119576518
34LAMP2LAMP2, 2-BP DEL, 1097AAdeletionPathogenic
35LAMP2NM_001122606.1(LAMP2): c.440T> A (p.Leu147Ter)single nucleotide variantPathogenicrs137852527GRCh37Chr X, 119582941: 119582941
36LAMP2LAMP2, IVS6, G-C, +5single nucleotide variantPathogenic
37LAMP2LAMP2, 1-BP INS, 974AinsertionPathogenic
38LAMP2LAMP2, IVS5, G-A, +1single nucleotide variantPathogenic
39LAMP2LAMP2, 1-BP DEL, 14GdeletionPathogenic
40LAMP2LAMP2, 1-BP INS, 883TinsertionPathogenic
41LAMP2LAMP2, 7-BP DELdeletionPathogenic
42LAMP2NM_001122606.1(LAMP2): c.520C> T (p.Gln174Ter)single nucleotide variantPathogenicrs104894857GRCh37Chr X, 119582861: 119582861
43LAMP2NM_002294.2(LAMP2): c.928G> A (p.Val310Ile)single nucleotide variantPathogenicrs104894858GRCh37Chr X, 119576454: 119576454
44LAMP2NM_001122606.1(LAMP2): c.961T> C (p.Trp321Arg)single nucleotide variantPathogenicrs104894859GRCh37Chr X, 119575717: 119575717
45LAMP2LAMP2, 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
19.6GAA, LAMP2

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
1late endosome membraneGO:00319029.8LAMP2, VPS4A
2late endosomeGO:00057709.4LAMP2, VPS4A
3lysosomeGO:00057648.3GAA, LAMP2, VMA21, VPS4A

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

idNameGO IDScoreTop Affiliating Genes
1glycogen metabolic processGO:00059779.9GAA, PRKAG2
2membrane organizationGO:00610249.4PRKAG2, VPS4A

Sources for Danon Disease

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet