MCID: DNN001
MIFTS: 41

Danon Disease malady

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

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 67 24
Glycogen Storage Disease Type Iib 22 23 36 65
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
Glycogen Storage Disease Type 2b 45 23
Glycogen Storage Disease Iib 22 67
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
Pseudoglycogenosis 2 45
Dand 67

Characteristics:

HPO:

61
danon disease:
Onset and clinical course: phenotypic variability
Inheritance: x-linked dominant inheritance


Classifications:



External Ids:

OMIM49 300257
Disease Ontology10 DOID:0050437
MeSH36 D052120
SNOMED-CT59 419097006
NCIt42 C84735
MedGen34 C0878677
UMLS65 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 due to lamp-2 deficiency and glycogen storage disease, and has symptoms including cognitive impairment, sudden cardiac death 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 lung.

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.

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

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.

Wikipedia:68 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 cognitive impairment hallmark (90%) HP:0100543
2 sudden cardiac death hallmark (90%) HP:0001645
3 hypertrophic cardiomyopathy hallmark (90%) HP:0001639
4 muscle weakness hallmark (90%) HP:0001324
5 gait disturbance hallmark (90%) HP:0001288
6 intellectual disability 70% HP:0001249
7 cognitive impairment HP:0100543
8 arrhythmia HP:0011675
9 exercise-induced muscle cramps HP:0003710
10 proximal muscle weakness HP:0003701
11 generalized amyotrophy HP:0003700
12 exercise intolerance HP:0003546
13 emg HP:0003458
14 elevated serum creatine phosphokinase HP:0003236
15 hypokinesia HP:0002375
16 pes cavus HP:0001761
17 wolff-parkinson-white syndrome HP:0001716
18 myocardial necrosis HP:0001700
19 myocardial fibrosis HP:0001685
20 dilated cardiomyopathy HP:0001644
21 cardiomegaly HP:0001640
22 hypertrophic cardiomyopathy HP:0001639
23 global developmental delay HP:0001263
24 visual impairment HP:0000505

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 Disease22 LAMP2

Anatomical Context for Danon Disease

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MalaCards organs/tissues related to Danon Disease:

33
Heart, Skeletal muscle, Lung, Endothelial, Testes, Monocytes, T cells

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 83)
idTitleAuthorsYear
1
Protein degradation in a LAMP-2-deficient B-lymphoblastoid cell line from a patient with Danon disease. (27130438)
2016
2
Early onset of cardiomyopathy and intellectual disability in a girl with Danon disease associated with a de novo novel mutation of the LAMP2 gene. (27145725)
2016
3
The c.65-2A>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
Early onset cardiomyopathy in females with Danon disease. (25900304)
2015
6
Danon disease and a new mutation of the LAMP-2 gene in a Spanish family. (26385016)
2015
7
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
8
Danon disease: a rare cause of left ventricular hypertrophy with cardiac magnetic resonance follow-up. (26206213)
2015
9
Danon disease: a phenotypic expression of LAMP-2 deficiency. (25589223)
2015
10
Novel LAMP2 mutations in Chinese patients with Danon disease cause varying degrees of clinical severity. (24691104)
2014
11
Early diagnosis of Danon disease: Flow cytometric detection of lysosome-associated membrane protein-2-negative leukocytes. (25458169)
2014
12
Asymptomatic young man with Danon disease. (24955057)
2014
13
Late profound muscle weakness following heart transplantation due to Danon disease. (23168931)
2013
14
Cystoid macular edema in a patient with Danon disease. (23571262)
2013
15
Morphologic and clinical aspects of Danon disease in a patient with a mutation c.137G > A in the LAMP-2 gene. (23504560)
2013
16
Danon disease : A novel mutation in the LAMP-2 gene and ophthalmic abnormality. (23955649)
2013
17
Danon Disease Due to a Novel LAMP2 Microduplication. (24222494)
2013
18
Lysosomal storage and advanced senescence in the brain of LAMP-2-deficient Danon disease. (23262972)
2013
19
Cardiac magnetic resonance imaging in Danon disease. (22378182)
2012
20
Detection of somatic and germline mosaicism for the LAMP2 gene mutation c.808dupG in a Chinese family with Danon disease. (22750798)
2012
21
Danon disease as a cause of concentric left ventricular hypertrophy in patients who underwent endomyocardial biopsy. (22108829)
2012
22
Incremental value of three-dimensional strain imaging in Danon disease. (22581284)
2012
23
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
24
Danon disease: intrafamilial phenotypic variability related to a novel LAMP-2 mutation. (21161685)
2011
25
Danon disease presenting as severe myocardial hypertrophy. (21816855)
2011
26
Natural history of Danon disease. (21415759)
2011
27
Danon disease: characteristic late gadolinium enhancement pattern on cardiac magnetic resonance imaging. (21733342)
2011
28
LAMP2 microdeletions in patients with Danon disease. (20173215)
2010
29
A 13-year-old girl with proximal weakness and hypertrophic cardiomyopathy with Danon disease. (20513107)
2010
30
Utility of real-time 3-dimensional echocardiography and magnetic resonance imaging for evaluation of Danon disease. (20439808)
2010
31
Functional performance and muscle strength phenotypes in men and women with Danon disease. (21104865)
2010
32
Danon disease: further clinical and molecular heterogeneity. (19373884)
2009
33
Extension of the clinical spectrum of Danon disease. (18413590)
2008
34
Danon disease due to a novel splice mutation in the LAMP2 gene. (18004770)
2008
35
Cardioembolic stroke in Danon disease. (18312451)
2008
36
Danon disease: an unusual presentation of autism. (18555174)
2008
37
Danon disease with typical early-onset cardiomyopathy in a male: focus on a novel LAMP-2 mutation. (18282207)
2008
38
Danon disease: a novel Lamp-2 gene mutation in a family with four affected members. (18061453)
2008
39
Retinopathy in Danon disease. (17296900)
2007
40
Danon disease presenting with dilated cardiomyopathy and a complex phenotype. (17899313)
2007
41
Danon disease as a cause of autophagic vacuolar myopathy. (18377432)
2007
42
LAMP-2 deficiency (Danon disease). (17915578)
2007
43
Danon disease: a case report and literature overview]. (17642461)
2007
44
Generalized lysosome-associated membrane protein-2 defect explains multisystem clinical involvement and allows leukocyte diagnostic screening in Danon disease. (16565504)
2006
45
Ophthalmic manifestations of Danon disease. (16751040)
2006
46
Familial X-linked cardiomyopathy (Danon disease): diagnostic confirmation by mutation analysis of the LAMP2gene. (15889279)
2005
47
Characterization of Danon disease in a male patient and his affected mother. (14561493)
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 variantLikely pathogenic, Pathogenicrs730880483GRCh37Chr 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)insertionPathogenicrs730880492GRCh37Chr X, 119581848: 119581849
22LAMP2NM_001122606.1(LAMP2): c.651dupA (p.Pro218Thrfs)duplicationPathogenicrs730880493GRCh38Chr X, 120447931: 120447931
23LAMP2NM_002294.2(LAMP2): c.65-1G> Csingle nucleotide variantPathogenicrs730880496GRCh37Chr X, 119590625: 119590625
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 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
1lysosomeGO:00057649.2LAMP2, VMA21

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