MCID: DNN001
MIFTS: 46

Danon Disease malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Metabolic diseases, Cardiovascular diseases

Aliases & Classifications for Danon Disease

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Aliases & Descriptions for Danon Disease:

Name: Danon Disease 50 11 46 23 24 13 52 68 25 12 48
Glycogen Storage Disease Type Iib 23 24 37 66
Lysosomal Glycogen Storage Disease Without Acid Maltase Deficiency 46 68
X-Linked Vacuolar Cardiomyopathy and Myopathy 46 23
Vacuolar Cardiomyopathy and Myopathy X-Linked 46 68
Glycogen Storage Disease Type 2b 46 24
Glycogen Storage Disease Iib 23 68
Pseudoglycogenosis Ii 11 68
Antopol Disease 11 46
Gsd-Iib 23 68
 
Gsd2b 46 68
Lysosomal Glycogen Storage Disease with Normal Acid Maltase Activity 52
Lysosomal Glycogen Storage Disease with Normal Acid Maltase 24
Glycogen Storage Disease Due to Lamp-2 Deficiency 52
Glycogen Storage Disease Limited to the Heart 46
Glycogenosis Due to Lamp-2 Deficiency 52
Glycogen Storage Cardiomyopathy 46
Gsd Due to Lamp-2 Deficiency 52
Pseudoglycogenosis 2 46
Dand 68

Characteristics:

Orphanet epidemiological data:

52
danon disease:
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide),<1/1000000 (Sweden); Age of onset: Childhood; Age of death: adult

HPO:

62
danon disease:
Inheritance: x-linked dominant inheritance
Onset and clinical course: phenotypic variability


Classifications:



External Ids:

OMIM50 300257
Disease Ontology11 DOID:0050437
MeSH37 D052120
NCIt43 C84735
SNOMED-CT60 419097006
Orphanet52 ORPHA34587
ICD10 via Orphanet29 E74.0
MedGen35 C0878677

Summaries for Danon Disease

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OMIM:50 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.

Genetics Home Reference:24 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:46 Danon disease is a rare genetic condition characterized by weakening of the heart muscle (cardiomyopathy), weakening of the muscles used for movement (skeletal muscles myopathy), and intellectual disability. this condition 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 inherited in an x-linked dominant pattern. as a result, males tend to be more severely affected than females and develop symptoms at a younger age. treatment is aimed at addressing the symptoms present in each individual and may require a team of specialists.   last updated: 7/12/2016

UniProtKB/Swiss-Prot:68 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.

Wikipedia:69 Danon disease (or glycogen storage disease Type IIb) is a metabolic disorder. more...

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 24)
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 hypertrophic cardiomyopathy HP:0001639
10 cardiomegaly HP:0001640
11 dilated cardiomyopathy HP:0001644
12 myocardial fibrosis HP:0001685
13 myocardial necrosis HP:0001700
14 wolff-parkinson-white syndrome HP:0001716
15 pes cavus HP:0001761
16 hypokinesia HP:0002375
17 elevated serum creatine phosphokinase HP:0003236
18 emg HP:0003458
19 exercise intolerance HP:0003546
20 generalized amyotrophy HP:0003700
21 proximal muscle weakness HP:0003701
22 exercise-induced muscle cramps HP:0003710
23 arrhythmia HP:0011675
24 cognitive impairment HP:0100543

UMLS symptoms related to Danon Disease:


hypokinesia

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 Disease25 23 LAMP2

Anatomical Context for Danon Disease

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MalaCards organs/tissues related to Danon Disease:

34
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 87)
idTitleAuthorsYear
1
Protein degradation in a LAMP-2-deficient B-lymphoblastoid cell line from a patient with Danon disease. (27130438)
2016
2
A novel LAMP2 mutation associated with severe cardiac hypertrophy and microvascular remodeling in a female with Danon disease: a case report and literature review. (27497751)
2016
3
The c.65-2A&gt;G splice site mutation is associated with a mild phenotype in Danon disease due to the transcription of normal LAMP2 mRNA. (26748608)
2016
4
Identification of Two Novel LAMP2 Gene Mutations in Danon Disease. (27179547)
2016
5
Identification of LAMP2 Mutations in Early-Onset Danon Disease With Hypertrophic Cardiomyopathy by Targeted Next-Generation Sequencing. (27460667)
2016
6
Lymphoma in Danon disease with chronic rhabdomyolysis treated with EPOCH-R: A case report. (27442649)
2016
7
Early onset cardiomyopathy in females with Danon disease. (25900304)
2015
8
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
9
Danon disease: a rare cause of left ventricular hypertrophy with cardiac magnetic resonance follow-up. (26206213)
2015
10
Danon disease: a phenotypic expression of LAMP-2 deficiency. (25589223)
2015
11
Oxidative Stress Mediates Cardiomyocyte Apoptosis in a Human Model of Danon Disease and Heart Failure. (25826782)
2015
12
LAMP-2 deficiency leads to hippocampal dysfunction but normal clearance of neuronal substrates of chaperone-mediated autophagy in a mouse model for Danon disease. (25637286)
2015
13
Early diagnosis of Danon disease: Flow cytometric detection of lysosome-associated membrane protein-2-negative leukocytes. (25458169)
2014
14
Danon disease: clinical features, evaluation, and management. (25228319)
2014
15
Morphologic and clinical aspects of Danon disease in a patient with a mutation c.137G &gt; A in the LAMP-2 gene. (23504560)
2013
16
Danon Disease Due to a Novel LAMP2 Microduplication. (24222494)
2013
17
Consider Danon disease in dilated cardiomyopathy with noncompaction. (23653338)
2013
18
Late profound muscle weakness following heart transplantation due to Danon disease. (23168931)
2013
19
Danon disease as a cause of concentric left ventricular hypertrophy in patients who underwent endomyocardial biopsy. (22108829)
2012
20
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
21
Danon disease: focusing on heart. (22695892)
2012
22
Wolff-Parkinson-White syndrome and concentric left ventricular hypertrophy in a teenager: Danon disease. (22261172)
2012
23
A phenocopy of sarcomeric hypertrophic cardiomyopathy: LAMP2 cardiomyopathy (Danon disease) from China. (22187509)
2012
24
Cardiac magnetic resonance imaging in Danon disease. (22378182)
2012
25
Detection of somatic and germline mosaicism for the LAMP2 gene mutation c.808dupG in a Chinese family with Danon disease. (22750798)
2012
26
Danon disease: intrafamilial phenotypic variability related to a novel LAMP-2 mutation. (21161685)
2011
27
Natural history of Danon disease. (21415759)
2011
28
Danon disease: characteristic late gadolinium enhancement pattern on cardiac magnetic resonance imaging. (21733342)
2011
29
A 13-year-old girl with proximal weakness and hypertrophic cardiomyopathy with Danon disease. (20513107)
2010
30
Functional performance and muscle strength phenotypes in men and women with Danon disease. (21104865)
2010
31
A young patient with Danon disease receives two ICD shocks: why? (20230469)
2010
32
Electron microscopic findings in skin biopsies from patients with Danon disease. (21070164)
2010
33
Danon disease: further clinical and molecular heterogeneity. (19373884)
2009
34
Extension of the clinical spectrum of Danon disease. (18413590)
2008
35
Danon disease due to a novel splice mutation in the LAMP2 gene. (18004770)
2008
36
Cardioembolic stroke in Danon disease. (18312451)
2008
37
Danon disease: an unusual presentation of autism. (18555174)
2008
38
Gene symbol: LAMP2. Disease: Danon disease. (20960602)
2008
39
Danon disease as a cause of autophagic vacuolar myopathy. (18377432)
2007
40
LAMP-2 deficiency (Danon disease). (17915578)
2007
41
Retinopathy in Danon disease. (17296900)
2007
42
Danon disease presenting with dilated cardiomyopathy and a complex phenotype. (17899313)
2007
43
Ophthalmic manifestations of Danon disease. (16751040)
2006
44
Novel Lamp-2 gene mutation and successful treatment with heart transplantation in a large family with Danon disease. (16372318)
2006
45
Generalized lysosome-associated membrane protein-2 defect explains multisystem clinical involvement and allows leukocyte diagnostic screening in Danon disease. (16565504)
2006
46
Danon disease as an underrecognized cause of hypertrophic cardiomyopathy in children. (16144992)
2005
47
Autophagic vacuoles with sarcolemmal features delineate Danon disease and related myopathies. (15977643)
2005
48
Charcot-Marie-Tooth features and maculopathy in a patient with Danon disease. (15505188)
2004
49
Disease model: LAMP-2 enlightens Danon disease. (11427988)
2001
50
Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease). (10972294)
2000

Variations for Danon Disease

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

68
id Symbol AA change Variation ID SNP ID
1LAMP2p.Trp321ArgVAR_026230rs104894859

Clinvar genetic disease variations for Danon Disease:

5 (show all 39)
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 pathogenicrs727504557GRCh38Chr X, 120441824: 120441824
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 pathogenicGRCh38Chr X, 120431323: 120441894
12LAMP2NM_002294.2(LAMP2): c.795C> A (p.Cys265Ter)single nucleotide variantLikely pathogenic, Pathogenicrs730880483GRCh37Chr X, 119580229: 119580229
13LAMP2NM_002294.2: c.183+2insTinsertionPathogenic
14LAMP2NM_002294.2(LAMP2): c.588_589insCAACA (p.Val197Glnfs)insertionPathogenicrs730880492GRCh37Chr X, 119581848: 119581849
15LAMP2NM_001122606.1(LAMP2): c.651dupA (p.Pro218Thrfs)duplicationPathogenicrs730880493GRCh38Chr X, 120447931: 120447931
16LAMP2NM_002294.2(LAMP2): c.(?_398)-60_(741_?)+68deldeletionLikely pathogenic
17LAMP2NM_002294.2(LAMP2): c.912T> G (p.Tyr304Ter)single nucleotide variantLikely pathogenicrs876657648GRCh38Chr X, 120442615: 120442615
18LAMP2NM_002294.2(LAMP2): c.294G> A (p.Trp98Ter)single nucleotide variantPathogenicrs876657696GRCh38Chr X, 120455460: 120455460
19LAMP2NM_002294.2(LAMP2): c.463delA (p.Ser155Valfs)deletionLikely pathogenicrs193922649GRCh37Chr X, 119582918: 119582918
20LAMP2NM_001122606.1(LAMP2): c.183T> A (p.Tyr61Ter)single nucleotide variantLikely pathogenicrs397516736GRCh37Chr X, 119590506: 119590506
21LAMP2NM_001122606.1(LAMP2): c.183T> G (p.Tyr61Ter)single nucleotide variantLikely pathogenicrs397516736GRCh37Chr X, 119590506: 119590506
22LAMP2NM_001122606.1(LAMP2): c.191delT (p.Val64Glufs)deletionLikely pathogenicrs397516738GRCh37Chr X, 119589418: 119589418
23LAMP2NM_001122606.1(LAMP2): c.217dupA (p.Thr73Asnfs)duplicationLikely pathogenicrs397516739GRCh37Chr X, 119589392: 119589392
24LAMP2NM_013995.2(LAMP2): c.293G> A (p.Trp98Ter)single nucleotide variantPathogenicrs397516740GRCh37Chr X, 119589316: 119589316
25LAMP2NM_002294.2(LAMP2): c.65-2A> Gsingle nucleotide variantPathogenicrs397516743GRCh37Chr X, 119590626: 119590626
26LAMP2NM_002294.2(LAMP2): c.864+3_864+6delGAGTdeletionLikely pathogenic, Pathogenicrs397516751GRCh37Chr X, 119580154: 119580157
27LAMP2NM_002294.2(LAMP2): c.865-1G> Csingle nucleotide variantLikely pathogenicrs397516752GRCh37Chr X, 119576518: 119576518
28LAMP2LAMP2, 2-BP DEL, 1097AAdeletionPathogenic
29LAMP2NM_001122606.1(LAMP2): c.440T> A (p.Leu147Ter)single nucleotide variantPathogenicrs137852527GRCh37Chr X, 119582941: 119582941
30LAMP2LAMP2, IVS6, G-C, +5single nucleotide variantPathogenic
31LAMP2LAMP2, 1-BP INS, 974AinsertionPathogenic
32LAMP2LAMP2, IVS5, G-A, +1single nucleotide variantPathogenic
33LAMP2LAMP2, 1-BP DEL, 14GdeletionPathogenic
34LAMP2LAMP2, 1-BP INS, 883TinsertionPathogenic
35LAMP2LAMP2, 7-BP DELdeletionPathogenic
36LAMP2NM_001122606.1(LAMP2): c.520C> T (p.Gln174Ter)single nucleotide variantPathogenicrs104894857GRCh37Chr X, 119582861: 119582861
37LAMP2NM_002294.2(LAMP2): c.928G> A (p.Val310Ile)single nucleotide variantPathogenicrs104894858GRCh37Chr X, 119576454: 119576454
38LAMP2NM_001122606.1(LAMP2): c.961T> C (p.Trp321Arg)single nucleotide variantPathogenicrs104894859GRCh37Chr X, 119575717: 119575717
39LAMP2LAMP2, 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 pathwaysScoreTop 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:00319029.9LAMP2, VPS4A
2lysosomal lumenGO:00432029.8GAA, LAMP2
3late endosomeGO:00057709.7LAMP2, VPS4A
4lysosomeGO:00057648.3GAA, LAMP2, VMA21, VPS4A

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

idNameGO IDScoreTop Affiliating Genes
1glycogen metabolic processGO:00059779.6GAA, PRKAG2
2muscle cell cellular homeostasisGO:00467169.6GAA, LAMP2

Sources for Danon Disease

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet