MCID: DNN001
MIFTS: 51

Danon Disease malady

Neuronal, Metabolic, Cardiovascular categories

Summaries for Danon Disease

Sources:
21Genetics Home Reference, 43NIH Rare Diseases, 64Wikipedia, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 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 mental retardation and hypertrophic cardiomyopathy, and has symptoms including intellectual deficit/mental/psychomotor retardation/learning disability, abnormal gait and collapse/sudden death/cardiac arrest/cardiorespiratory arrest. 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 skin, brain and heart, 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:64 Danon disease (or glycogen storage disease Type IIb) is a metabolic disorder. more...

Description from OMIM:47 300257

Aliases & Classifications for Danon Disease

Sources:
8Disease Ontology, 9diseasecard, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 47OMIM, 10DISEASES, 45Novoseek, 49Orphanet, 61UMLS, 35MeSH, 26ICD10 via Orphanet
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

49
danon disease:
Inheritance: X-linked recessive; Prevalence: <1/1000000; Age of onset: Childhood; Age of death: Adult


Aliases & Descriptions:

danon disease 8 9 43 20 22 21 47 10 45 49 61
glycogen storage disease type 2b 43 21
antopol disease 8 43
lysosomal glycogen storage disease with normal acid maltase activity 49
lysosomal glycogen storage disease with normal acid maltase 21
glycogen storage disease due to lamp-2 deficiency 49
glycogen storage disease limited to the heart 43
glycogenosis due to lamp-2 deficiency 49
glycogen storage disease type iib 21
glycogen storage cardiomyopathy 43
gsd due to lamp-2 deficiency 49
pseudoglycogenosis ii 8
gsd2b 43


External Ids:

Disease Ontology8 DOID:0050437
MeSH35 D052120
OMIM47 300257
ICD10 via Orphanet26 E74.0

Related Diseases for Danon Disease

Sources:
17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Danon Disease:



Diseases related to danon disease

Clinical Features for Danon Disease

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

300257

Clinical synopsis from OMIM:

300257

Symptoms:

49 (show all 6)
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • abnormal gait
  • collapse/sudden death/cardiac arrest/cardiorespiratory arrest
  • muscle weakness/flaccidity
  • cardiomyopathy/hypertrophic/dilated
  • x-linked recessive inheritance

Drugs & Therapeutics for Danon Disease

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

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

Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Danon Disease:

id Genetic test Affiliating Genes
1 Danon Disease20 22 LAMP2

Anatomical Context for Danon Disease

Sources:
33MalaCards
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MalaCards organs/tissues related to Danon Disease:

33
Skin, Brain, Heart, Skeletal muscle

Animal Models for Danon Disease or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Danon Disease:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.6LAMP2, GLA, DMD, GAA

Publications for Danon Disease

Sources:
51PubMed
See all sources

Articles related to Danon Disease:

(show top 50)    (show all 72)
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
Cystoid macular edema in a patient with Danon disease. (23571262)
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
Lysosomal storage and advanced senescence in the brain of LAMP-2-deficient Danon disease. (23262972)
2013
6
Consider Danon disease in dilated cardiomyopathy with noncompaction. (23653338)
2013
7
Cardiac magnetic resonance imaging in Danon disease. (22378182)
2012
8
Detection of somatic and germline mosaicism for the LAMP2 gene mutation c.808dupG in a Chinese family with Danon disease. (22750798)
2012
9
Incremental value of three-dimensional strain imaging in Danon disease. (22581284)
2012
10
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
11
Cone-rod dystrophy can be a manifestation of Danon disease. (22290069)
2012
12
Wolff-Parkinson-White syndrome and concentric left ventricular hypertrophy in a teenager: Danon disease. (22261172)
2012
13
Sudden death associated with danon disease in women. (22074992)
2012
14
A phenocopy of sarcomeric hypertrophic cardiomyopathy: LAMP2 cardiomyopathy (Danon disease) from China. (22187509)
2012
15
Danon disease caused by two novel mutations of the LAMP2 gene: implications for two ends of the clinical spectrum. (22541782)
2012
16
Danon disease: intrafamilial phenotypic variability related to a novel LAMP-2 mutation. (21161685)
2011
17
Danon disease: characteristic late gadolinium enhancement pattern on cardiac magnetic resonance imaging. (21733342)
2011
18
Utility of real-time 3-dimensional echocardiography and magnetic resonance imaging for evaluation of Danon disease. (20439808)
2010
19
Functional performance and muscle strength phenotypes in men and women with Danon disease. (21104865)
2010
20
A young patient with Danon disease receives two ICD shocks: why? (20230469)
2010
21
Danon disease: further clinical and molecular heterogeneity. (19373884)
2009
22
Novel LAMP-2 mutation in a family with Danon disease presenting with hypertrophic cardiomyopathy. (19057086)
2009
23
Anesthetic implications of Danon disease. (19754491)
2009
24
Danon disease: case report and detection of new mutation. (19588270)
2009
25
Extension of the clinical spectrum of Danon disease. (18413590)
2008
26
Danon disease due to a novel splice mutation in the LAMP2 gene. (18004770)
2008
27
Danon disease: an unusual presentation of autism. (18555174)
2008
28
Danon disease with typical early-onset cardiomyopathy in a male: focus on a novel LAMP-2 mutation. (18282207)
2008
29
Danon disease: a novel Lamp-2 gene mutation in a family with four affected members. (18061453)
2008
30
Morphological and clinical aspects of Danon disease]. (18393115)
2008
31
Pacemaker malfunctions in Danon's disease. (18181922)
2008
32
Retinopathy in Danon disease. (17296900)
2007
33
Danon disease presenting with dilated cardiomyopathy and a complex phenotype. (17899313)
2007
34
Danon disease as a cause of autophagic vacuolar myopathy. (18377432)
2007
35
Danon disease: a case report and literature overview]. (17642461)
2007
36
Massive cardiac hypertrophy in a patient with Danon disease: an intraoperative transesophageal echocardiographic evaluation. (17898373)
2007
37
Abnormal chaperone-mediated autophagy (CMA) in cardiomyocytes of a boy with Danon disease. (17849364)
2007
38
Ophthalmic manifestations of Danon disease. (16751040)
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
Danon disease as an underrecognized cause of hypertrophic cardiomyopathy in children. (16144992)
2005
42
Autophagic vacuoles with sarcolemmal features delineate Danon disease and related myopathies. (15977643)
2005
43
Danon's disease as a cause of hypertrophic cardiomyopathy: a systematic survey. (15253947)
2004
44
Charcot-Marie-Tooth features and maculopathy in a patient with Danon disease. (15505188)
2004
45
Germline mosaicism of a novel mutation in lysosome-associated membrane protein-2 deficiency (Danon disease). (12112061)
2002
46
Clinicopathological features of genetically confirmed Danon disease. (12084876)
2002
47
Danon's disease (X-linked vacuolar cardiomyopathy and myopathy): a case with a novel Lamp-2 gene mutation. (12398843)
2002
48
Lysosomal glycogen storage disease with normal acid maltase (Danon) without apparent cardiomyopathy and mental retardation]. (10885338)
2000
49
Lysosomal glycogen storage disease without acid maltase deficiency (Danon's disease)]. (9645081)
1998
50
Morphologic findings in biopsied skeletal muscle and cultured fibroblasts from a female patient with Danon's disease (lysosomal glycogen storage disease without acid maltase deficiency). (7699392)
1994

Genetic Variations for Danon Disease

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Danon Disease:

63
id Symbol AA change Variation SNP ID
1LAMP2p.Trp321ArgVAR_026230

Expression for genes affiliated with Danon Disease

Sources:
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

Sources:
30KEGG, 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

Sources:
45Novoseek, 24HMDB, 11DrugBank, 60Tocris Bioscience
See all sources

Compounds related to Danon Disease according to GeneCards/GeneDecks:

(show all 12)
idCompoundScoreTop Affiliating Genes
1melibiose45 2410.8GAA, GLA
2maltose45 1110.7GLA, GAA
31-deoxynojirimycin45 60 1111.6GLA, GAA
4dextran459.6GLA, LAMP2
5n-acetyllactosamine45 2410.3LAMP2, LAMP1, GLA
6mannose459.2LAMP1, GLA, GAA
7ganglioside459.1GLA, LAMP1
8creatinine459.0GLA, DMD, GAA
9sucrose45 11 2410.3GAA, DMD, GLA, LAMP1, LAMP2
10mannose 6-phosphate45 249.1LAMP2, LAMP1, GLA, MPP2, GAA
11glucose458.0GLA, MPP2, DMD, GAA
12glycogen45 248.6GAA, DMD, MPP2, PRKAG2, GLA, LAMP2

GO Terms for genes affiliated with Danon Disease

Sources:
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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Danon Disease

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet