MCID: DNN001
MIFTS: 57

Danon Disease malady

Neuronal diseases, Metabolic diseases, Cardiovascular diseases categories

Summaries for Danon Disease

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Sources:
21Genetics Home Reference, 42NIH Rare Diseases, 63Wikipedia, 46OMIM, 32MalaCards
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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: Danon Disease, also known as glycogen storage disease type 2b, is related to hypertrophic cardiomyopathy and myopathy, and has symptoms including x-linked recessive inheritance, cardiomyopathy/hypertrophic/dilated and muscle weakness/flaccidity. An important gene associated with Danon Disease is LAMP2 (lysosomal-associated membrane protein 2), and among its related pathways are Galactose metabolism and Lysosome. The compounds melibiose and maltose have been mentioned in the context of this disorder. Affiliated tissues include heart, skeletal muscle and brain, and related mouse phenotype 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:63 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, 60UMLS, 34MeSH, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Metabolic diseases
Anatomical: Neuronal diseases, Cardiovascular diseases


Characteristics (Orphanet epidemiological data):

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


Aliases & Descriptions:

danon disease 8 9 42 20 22 21 46 10 44 48 60
glycogen storage disease type 2b 42 21
antopol disease 8 42
lysosomal glycogen storage disease with normal acid maltase activity 48
lysosomal glycogen storage disease with normal acid maltase 21
glycogen storage disease due to lamp-2 deficiency 48
glycogen storage disease limited to the heart 42
glycogenosis due to lamp-2 deficiency 48
glycogen storage disease type iib 21
glycogen storage cardiomyopathy 42
gsd due to lamp-2 deficiency 48
pseudoglycogenosis ii 8
gsd2b 42


External Ids:

Disease Ontology8 DOID:0050437
MeSH34 D052120
OMIM46 300257
ICD10 via Orphanet26 E74.0
SNOMED-CT via Orphanet57 419097006

Related Diseases for Danon Disease

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Sources:
17GeneCards, 18GeneDecks
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Diseases related to Danon Disease via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 40)
idRelated DiseaseScoreTop Affiliating Genes
1hypertrophic cardiomyopathy30.5GAA, PRKAG2, LAMP2
2myopathy30.5GAA, DMD, MPP2, LAMP2
3glycogen storage disease30.4GAA, DMD, MPP2, PRKAG2, LAMP2
4dilated cardiomyopathy30.2LAMP2, DMD
5lysosomal storage disease30.0GAA, GLA
6cone-rod dystrophy10.2
7cone dystrophy10.2
8x-linked disease10.2
9wolff-parkinson-white syndrome10.0
10cystoid macular edema10.0
11familial hypertrophic cardiomyopathy10.0
12brain disease10.0
13charcot-marie-tooth disease10.0
14chromosomal disease10.0
15leukocyte disease10.0
16skin disease10.0
17tooth disease10.0
18glycogen storage disease ii10.0GAA
19myositis10.0DMD
20hemangioma10.0GLA
21mucopolysaccharidosis10.0GAA
22facioscapulohumeral muscular dystrophy10.0GAA, DMD
23rigid spine syndrome10.0GAA, DMD
24chediak-higashi syndrome10.0LAMP1
25hermansky-pudlak syndrome10.0LAMP2
26distal muscular dystrophy10.0DMD, GAA
27myopathy congenital10.0DMD, GAA
28limb-girdle muscular dystrophy10.0DMD, GAA
29spinal muscular atrophy10.0GAA, DMD
30neuromuscular disease10.0DMD, GAA
31protein s deficiency10.0LAMP2, DMD, GAA
32duchenne muscular dystrophy10.0GAA, DMD
33muscular dystrophy10.0DMD, GAA
34fabry disease10.0GAA, PRKAG2, GLA
35lysosomal acid phosphatase deficiency10.0LAMP2, LAMP1, GAA
36gaucher's disease10.0LAMP1, GLA
37congenital heart defect10.0GAA, DMD, GLA
38mental retardation10.0LAMP2, MPP2, DMD, GAA
39hypertrophy of breast10.0GAA, DMD, PRKAG2, GLA, LAMP2
40noonan syndrome10.0GAA, DMD, MPP2, PRKAG2, GLA, LAMP2

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



Diseases related to danon disease

Clinical Features for Danon Disease

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Sources:
46OMIM, 48Orphanet
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Clinical features from OMIM:

300257

Clinical synopsis from OMIM:

300257

Symptoms:

48
  • x-linked recessive inheritance
  • cardiomyopathy/hypertrophic/dilated
  • muscle weakness/flaccidity
  • collapse/sudden death/cardiac arrest/cardiorespiratory arrest
  • abnormal gait
  • intellectual deficit/mental/psychomotor retardation/learning disability

Drugs & Therapeutics for Danon Disease

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Danon Disease

Drug clinical trials:

Search ClinicalTrials for Danon Disease

Search NIH Clinical Center for Danon Disease

Search CenterWatch for Danon Disease

Genetic Tests for Danon Disease

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20GeneTests, 22GTR
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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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32MalaCards
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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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36MGI
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MGI Mouse Phenotypes related to Danon Disease:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.6LAMP2, GLA, DMD, GAA

Publications for Danon Disease

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50PubMed
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Articles related to Danon Disease:

(show top 50)    (show all 67)
idTitleAuthorsYear
1
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
2
Late profound muscle weakness following heart transplantation due to Danon disease. (23168931)
2013
3
Morphologic and clinical aspects of Danon disease in a patient with a mutation c.137G &gt; A in the LAMP-2 gene. (23504560)
2013
4
Danon disease : A novel mutation in the LAMP-2 gene and ophthalmic abnormality. (23955649)
2013
5
Danon Disease Due to a Novel LAMP2 Microduplication. (24222494)
2013
6
Consider Danon disease in dilated cardiomyopathy with noncompaction. (23653338)
2013
7
Detection of somatic and germline mosaicism for the LAMP2 gene mutation c.808dupG in a Chinese family with Danon disease. (22750798)
2012
8
Danon disease as a cause of concentric left ventricular hypertrophy in patients who underwent endomyocardial biopsy. (22108829)
2012
9
Danon disease: focusing on heart. (22695892)
2012
10
Cone-rod dystrophy can be a manifestation of Danon disease. (22290069)
2012
11
Wolff-Parkinson-White syndrome and concentric left ventricular hypertrophy in a teenager: Danon disease. (22261172)
2012
12
Sudden death associated with danon disease in women. (22074992)
2012
13
Cone-rod dystrophy in Danon disease. (22407291)
2012
14
A phenocopy of sarcomeric hypertrophic cardiomyopathy: LAMP2 cardiomyopathy (Danon disease) from China. (22187509)
2012
15
Danon disease: intrafamilial phenotypic variability related to a novel LAMP-2 mutation. (21161685)
2011
16
Danon disease presenting as severe myocardial hypertrophy. (21816855)
2011
17
Natural history of Danon disease. (21415759)
2011
18
LAMP2 microdeletions in patients with Danon disease. (20173215)
2010
19
A 13-year-old girl with proximal weakness and hypertrophic cardiomyopathy with Danon disease. (20513107)
2010
20
Functional performance and muscle strength phenotypes in men and women with Danon disease. (21104865)
2010
21
A young patient with Danon disease receives two ICD shocks: why? (20230469)
2010
22
Electron microscopic findings in skin biopsies from patients with Danon disease. (21070164)
2010
23
Danon disease: further clinical and molecular heterogeneity. (19373884)
2009
24
Novel LAMP-2 mutation in a family with Danon disease presenting with hypertrophic cardiomyopathy. (19057086)
2009
25
Danon disease: case report and detection of new mutation. (19588270)
2009
26
Extension of the clinical spectrum of Danon disease. (18413590)
2008
27
Danon disease due to a novel splice mutation in the LAMP2 gene. (18004770)
2008
28
Cardioembolic stroke in Danon disease. (18312451)
2008
29
Danon disease: an unusual presentation of autism. (18555174)
2008
30
Danon disease with typical early-onset cardiomyopathy in a male: focus on a novel LAMP-2 mutation. (18282207)
2008
31
Danon disease: a novel Lamp-2 gene mutation in a family with four affected members. (18061453)
2008
32
Gene symbol: LAMP2. Disease: Danon disease. (20960602)
2008
33
Danon disease: a novel LAMP2 mutation affecting the pre-mRNA splicing and causing aberrant transcripts and partial protein expression. (18990578)
2008
34
Danon disease presenting with dilated cardiomyopathy and a complex phenotype. (17899313)
2007
35
Danon disease as a cause of autophagic vacuolar myopathy. (18377432)
2007
36
LAMP-2 deficiency (Danon disease). (17915578)
2007
37
Generalized lysosome-associated membrane protein-2 defect explains multisystem clinical involvement and allows leukocyte diagnostic screening in Danon disease. (16565504)
2006
38
Novel Lamp-2 gene mutation and successful treatment with heart transplantation in a large family with Danon disease. (16372318)
2006
39
Familial X-linked cardiomyopathy (Danon disease): diagnostic confirmation by mutation analysis of the LAMP2gene. (15889279)
2005
40
Asymptomatic hyperCKemia in a case of Danon disease due to a missense mutation in Lamp-2 gene. (15907287)
2005
41
Morphological, clinical and genetic aspects in a family with a novel LAMP-2 gene mutation (Danon disease). (15792868)
2005
42
Danon disease as an underrecognized cause of hypertrophic cardiomyopathy in children. (16144992)
2005
43
Charcot-Marie-Tooth features and maculopathy in a patient with Danon disease. (15505188)
2004
44
Characterization of Danon disease in a male patient and his affected mother. (14561493)
2003
45
Identification of a novel LAMP2 mutation responsible for X-chromosomal dominant Danon disease. (14598234)
2003
46
Germline mosaicism of a novel mutation in lysosome-associated membrane protein-2 deficiency (Danon disease). (12112061)
2002
47
Infantile autophagic vacuolar myopathy is distinct from Danon disease. (11552028)
2001
48
Disease model: LAMP-2 enlightens Danon disease. (11427988)
2001
49
Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease). (10972294)
2000
50
Lysosomal glycogen storage disease with normal acid maltase (Danon) without apparent cardiomyopathy and mental retardation]. (10885338)
2000

Genetic Variations for Danon Disease

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Danon Disease:

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

Expression for genes affiliated with Danon Disease

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Danon Disease

Search GEO for disease gene expression data for Danon Disease.

Pathways for genes affiliated with Danon Disease

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29KEGG, 12EMD Millipore
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Pathways related to Danon Disease according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Galactose metabolism
Hide members
9.6GLA, GAA
28.7LAMP2, LAMP1, GLA, GAA

Compounds for genes affiliated with Danon Disease

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44Novoseek, 24HMDB, 11DrugBank, 59Tocris Bioscience
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Compounds related to Danon Disease according to GeneCards/GeneDecks:

(show all 12)
idCompoundScoreTop Affiliating Genes
1melibiose44 2410.8GAA, GLA
2maltose44 1110.7GLA, GAA
31-deoxynojirimycin44 59 1111.6GLA, GAA
4dextran449.6GLA, LAMP2
5n-acetyllactosamine44 2410.3LAMP2, LAMP1, GLA
6mannose449.2LAMP1, GLA, GAA
7ganglioside449.1GLA, LAMP1
8creatinine449.0GLA, DMD, GAA
9sucrose44 11 2410.3GAA, DMD, GLA, LAMP1, LAMP2
10mannose 6-phosphate44 249.1LAMP2, LAMP1, GLA, MPP2, GAA
11glucose448.0GLA, MPP2, DMD, GAA
12glycogen44 248.6GAA, DMD, MPP2, PRKAG2, GLA, LAMP2

GO Terms for genes affiliated with Danon Disease

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16Gene Ontology
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Cellular components related to Danon Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1late endosomeGO:0057709.6LAMP2, LAMP1
2lysosomal membraneGO:0057659.1GAA, LAMP1, LAMP2
3sarcolemmaGO:0423839.0LAMP1, DMD
4lysosomeGO:0057648.3LAMP2, LAMP1, GLA, VMA21, GAA

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

idNameGO IDScoreTop Affiliating Genes
1muscle organ developmentGO:0075179.5DMD, GAA
2muscle cell cellular homeostasisGO:0467169.4DMD, GAA
3cardiac muscle contractionGO:0600489.2DMD, GAA

Products for genes affiliated with Danon Disease

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet