MCID: DNN001
MIFTS: 58

Danon Disease malady

Genetic diseases, Rare diseases, Neuronal diseases, Metabolic diseases, Cardiovascular diseases categories
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Summaries for Danon Disease

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NIH Rare Diseases:42 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

MalaCards based summary: Danon Disease, also known as glycogen storage disease type 2b, is related to glycogen storage disease and mental retardation, and has symptoms including cardiomyopathy/hypertrophic/dilated, collapse/sudden death/cardiac arrest/cardiorespiratory arrest and abnormal gait. 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.

Wikipedia:65 Danon disease (or glycogen storage disease Type IIb) is a metabolic disorder. more...

Description from OMIM:46 300257

Aliases & Classifications for Danon Disease

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Sources:
8Disease Ontology, 9diseasecard, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 62UMLS, 34MeSH, 26ICD10 via Orphanet
See all sources

Danon Disease, Aliases & Descriptions:

Name: Danon Disease 8 9 42 20 22 21 46 10 44 48 62
Glycogen Storage Disease Type 2b 42 21 62
Antopol Disease 8 42 62
Lysosomal Glycogen Storage Disease Without Acid Maltase Deficiency 42 62
Lysosomal Glycogen Storage Disease with Normal Acid Maltase 21 62
Glycogen Storage Disease Type Iib 21 62
Glycogen Storage Cardiomyopathy 42 62
Pseudoglycogenosis Ii 8 62
Pseudoglycogenosis 2 42 62
 
Lysosomal Glycogen Storage Disease with Normal Acid Maltase Activity 48
Glycogen Storage Disease Due to Lamp-2 Deficiency 48
X-Linked Vacuolar Cardiomyopathy and Myopathy 42
Vacuolar Cardiomyopathy and Myopathy X-Linked 42
Glycogen Storage Disease Limited to the Heart 42
Glycogenosis Due to Lamp-2 Deficiency 48
Gsd Due to Lamp-2 Deficiency 48
Gsd2b 42


Classifications:



Characteristics (Orphanet epidemiological data):

48
danon disease:
Inheritance: X-linked recessive; Prevalence: <1/1000000; Age of onset: Childhood; Age of death: Adult


External Ids:

Disease Ontology8 DOID:0050437
OMIM46 300257
MeSH34 D052120
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:

48
  • 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:

32
Heart, Skeletal muscle, Brain, Skin

Animal Models for Danon Disease or affiliated genes

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MGI Mouse Phenotypes related to Danon Disease:

36
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 69)
idTitleAuthorsYear
1
Novel LAMP2 mutations in Chinese patients with Danon disease cause varying degrees of clinical severity. (24691104)
2014
2
Asymptomatic young man with Danon disease. (24955057)
2014
3
Danon disease: clinical features, evaluation, and management. (25228319)
2014
4
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
5
Late profound muscle weakness following heart transplantation due to Danon disease. (23168931)
2013
6
Cystoid macular edema in a patient with Danon disease. (23571262)
2013
7
Morphologic and clinical aspects of Danon disease in a patient with a mutation c.137G &gt; A in the LAMP-2 gene. (23504560)
2013
8
Danon disease : A novel mutation in the LAMP-2 gene and ophthalmic abnormality. (23955649)
2013
9
Danon Disease Due to a Novel LAMP2 Microduplication. (24222494)
2013
10
Lysosomal storage and advanced senescence in the brain of LAMP-2-deficient Danon disease. (23262972)
2013
11
Cardiac magnetic resonance imaging in Danon disease. (22378182)
2012
12
Detection of somatic and germline mosaicism for the LAMP2 gene mutation c.808dupG in a Chinese family with Danon disease. (22750798)
2012
13
Danon disease as a cause of concentric left ventricular hypertrophy in patients who underwent endomyocardial biopsy. (22108829)
2012
14
Incremental value of three-dimensional strain imaging in Danon disease. (22581284)
2012
15
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
16
Danon disease: focusing on heart. (22695892)
2012
17
Cone-rod dystrophy can be a manifestation of Danon disease. (22290069)
2012
18
Danon disease: intrafamilial phenotypic variability related to a novel LAMP-2 mutation. (21161685)
2011
19
Danon disease presenting as severe myocardial hypertrophy. (21816855)
2011
20
Natural history of Danon disease. (21415759)
2011
21
Danon disease: characteristic late gadolinium enhancement pattern on cardiac magnetic resonance imaging. (21733342)
2011
22
LAMP2 microdeletions in patients with Danon disease. (20173215)
2010
23
A 13-year-old girl with proximal weakness and hypertrophic cardiomyopathy with Danon disease. (20513107)
2010
24
Utility of real-time 3-dimensional echocardiography and magnetic resonance imaging for evaluation of Danon disease. (20439808)
2010
25
Functional performance and muscle strength phenotypes in men and women with Danon disease. (21104865)
2010
26
A young patient with Danon disease receives two ICD shocks: why? (20230469)
2010
27
Danon disease: further clinical and molecular heterogeneity. (19373884)
2009
28
Novel LAMP-2 mutation in a family with Danon disease presenting with hypertrophic cardiomyopathy. (19057086)
2009
29
Extension of the clinical spectrum of Danon disease. (18413590)
2008
30
Danon disease due to a novel splice mutation in the LAMP2 gene. (18004770)
2008
31
Cardioembolic stroke in Danon disease. (18312451)
2008
32
Danon disease: an unusual presentation of autism. (18555174)
2008
33
Danon disease with typical early-onset cardiomyopathy in a male: focus on a novel LAMP-2 mutation. (18282207)
2008
34
Danon disease: a novel Lamp-2 gene mutation in a family with four affected members. (18061453)
2008
35
Gene symbol: LAMP2. Disease: Danon disease. (20960602)
2008
36
Retinopathy in Danon disease. (17296900)
2007
37
Danon disease presenting with dilated cardiomyopathy and a complex phenotype. (17899313)
2007
38
Danon disease as a cause of autophagic vacuolar myopathy. (18377432)
2007
39
LAMP-2 deficiency (Danon disease). (17915578)
2007
40
Danon disease: a case report and literature overview]. (17642461)
2007
41
Generalized lysosome-associated membrane protein-2 defect explains multisystem clinical involvement and allows leukocyte diagnostic screening in Danon disease. (16565504)
2006
42
Ophthalmic manifestations of Danon disease. (16751040)
2006
43
Novel Lamp-2 gene mutation and successful treatment with heart transplantation in a large family with Danon disease. (16372318)
2006
44
Familial X-linked cardiomyopathy (Danon disease): diagnostic confirmation by mutation analysis of the LAMP2gene. (15889279)
2005
45
Characterization of Danon disease in a male patient and his affected mother. (14561493)
2003
46
Identification of a novel LAMP2 mutation responsible for X-chromosomal dominant Danon disease. (14598234)
2003
47
Germline mosaicism of a novel mutation in lysosome-associated membrane protein-2 deficiency (Danon disease). (12112061)
2002
48
Clinicopathological features of genetically confirmed Danon disease. (12084876)
2002
49
Infantile autophagic vacuolar myopathy is distinct from Danon disease. (11552028)
2001
50
Disease model: LAMP-2 enlightens Danon disease. (11427988)
2001

Variations for Danon Disease

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

64
id Symbol AA change Variation ID SNP ID
1LAMP2p.Trp321ArgVAR_026230

Clinvar genetic disease variations for Danon Disease:

6 (show all 21)
id Gene Name 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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Expression patterns in normal tissues for genes affiliated with Danon Disease

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Pathways for genes affiliated with Danon Disease

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Pathways related to Danon Disease according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
UDP-N-acetyl-D-galactosamine biosynthesis I37
galactose degradation I (Leloir pathway)37
Cori Cycle37
9.4GAA, GLA
2
Show member pathways
Arrhythmogenic right ventricular cardiomyopathy37
9.2PRKAG2, DMD
39.1GAA, GLA, LAMP2

Compounds for genes affiliated with Danon Disease

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Sources:
44Novoseek, 24HMDB, 61Tocris Bioscience, 11DrugBank
See all sources

Compounds related to Danon Disease according to GeneCards/GeneDecks:

(show all 16)
idCompoundScoreTop Affiliating Genes
1melibiose44 2410.7GAA, GLA
2D-Galactose249.7GLA, GAA
31-deoxynojirimycin61 44 1111.7GAA, GLA
4maltose44 1110.7GAA, GLA
5dextran449.7GLA, LAMP2
6D-Glucose249.6GLA, GAA
7n-acetyllactosamine44 2410.6GLA, LAMP2
8gold449.1DMD, GAA
9mannose449.1GAA, GLA
10glycerol44 24 1111.0GLA, DMD
11mannose 6-phosphate44 249.8MPP2, LAMP2, GLA, GAA
12creatinine448.7DMD, GLA, GAA
13arginine448.6GAA, GLA, DMD
14sucrose44 24 1110.5DMD, LAMP2, GLA, GAA
15glucose448.2DMD, MPP2, GLA, GAA
16glycogen44 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/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1lysosomeGO:0057648.5GAA, GLA, LAMP2, VMA21

Biological processes related to Danon Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1muscle organ developmentGO:0075179.2GAA, DMD
2cardiac muscle contractionGO:0600488.9GAA, DMD

Products for genes affiliated with Danon Disease

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  • Antibodies
  • Proteins
  • Lysates

Sources for Danon Disease

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet