MCID: DNN001
MIFTS: 57

Danon Disease malady

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

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Sources:
21Genetics Home Reference, 43NIH Rare Diseases, 65Wikipedia, 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 glycogen storage disease and mental retardation, and has symptoms including x-linked recessive inheritance, muscle weakness/flaccidity and intellectual deficit/mental/psychomotor retardation/learning disability. 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 skin, 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:47 300257

Aliases & Classifications for Danon Disease

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Sources:
8Disease Ontology, 9diseasecard, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 47OMIM, 10DISEASES, 45Novoseek, 49Orphanet, 62UMLS, 35MeSH, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet
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Classifications:



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 62
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 without acid maltase deficiency 43
lysosomal glycogen storage disease with normal acid maltase 21
glycogen storage disease due to lamp-2 deficiency 49
vacuolar cardiomyopathy and myopathy x-linked 43
glycogen storage disease limited to the heart 43
x-linked vacuolar cardiomyopathy and myopathy 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
pseudoglycogenosis 2 43
gsd2b 43


External Ids:

Disease Ontology8 DOID:0050437
MeSH35 D052120
OMIM47 300257
ICD10 via Orphanet26 E74.0
SNOMED-CT via Orphanet59 419097006

Related Diseases for Danon Disease

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17GeneCards, 18GeneDecks
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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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Sources:
47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

300257

Clinical features from OMIM:

300257

Symptoms:

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

Drugs & Therapeutics for Danon Disease

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Sources:
42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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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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Sources:
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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33MalaCards
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MalaCards organs/tissues related to Danon Disease:

33
Heart, Skeletal muscle, Skin, Brain

Animal Models for Danon Disease or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Danon Disease:

37
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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52PubMed
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Articles related to Danon Disease:

(show top 50)    (show all 65)
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
Cystoid macular edema in a patient with Danon disease. (23571262)
2013
4
Morphologic and clinical aspects of Danon disease in a patient with a mutation c.137G &gt; A in the LAMP-2 gene. (23504560)
2013
5
Danon disease : A novel mutation in the LAMP-2 gene and ophthalmic abnormality. (23955649)
2013
6
Danon Disease Due to a Novel LAMP2 Microduplication. (24222494)
2013
7
Lysosomal storage and advanced senescence in the brain of LAMP-2-deficient Danon disease. (23262972)
2013
8
Consider Danon disease in dilated cardiomyopathy with noncompaction. (23653338)
2013
9
Cardiac magnetic resonance imaging in Danon disease. (22378182)
2012
10
Detection of somatic and germline mosaicism for the LAMP2 gene mutation c.808dupG in a Chinese family with Danon disease. (22750798)
2012
11
Danon disease as a cause of concentric left ventricular hypertrophy in patients who underwent endomyocardial biopsy. (22108829)
2012
12
Incremental value of three-dimensional strain imaging in Danon disease. (22581284)
2012
13
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
14
Danon disease: focusing on heart. (22695892)
2012
15
Cone-rod dystrophy can be a manifestation of Danon disease. (22290069)
2012
16
Wolff-Parkinson-White syndrome and concentric left ventricular hypertrophy in a teenager: Danon disease. (22261172)
2012
17
Danon disease: intrafamilial phenotypic variability related to a novel LAMP-2 mutation. (21161685)
2011
18
Danon disease presenting as severe myocardial hypertrophy. (21816855)
2011
19
Natural history of Danon disease. (21415759)
2011
20
Danon disease: characteristic late gadolinium enhancement pattern on cardiac magnetic resonance imaging. (21733342)
2011
21
LAMP2 microdeletions in patients with Danon disease. (20173215)
2010
22
A 13-year-old girl with proximal weakness and hypertrophic cardiomyopathy with Danon disease. (20513107)
2010
23
Utility of real-time 3-dimensional echocardiography and magnetic resonance imaging for evaluation of Danon disease. (20439808)
2010
24
Functional performance and muscle strength phenotypes in men and women with Danon disease. (21104865)
2010
25
A young patient with Danon disease receives two ICD shocks: why? (20230469)
2010
26
Danon disease: further clinical and molecular heterogeneity. (19373884)
2009
27
Novel LAMP-2 mutation in a family with Danon disease presenting with hypertrophic cardiomyopathy. (19057086)
2009
28
Extension of the clinical spectrum of Danon disease. (18413590)
2008
29
Danon disease due to a novel splice mutation in the LAMP2 gene. (18004770)
2008
30
Cardioembolic stroke in Danon disease. (18312451)
2008
31
Danon disease: an unusual presentation of autism. (18555174)
2008
32
Danon disease with typical early-onset cardiomyopathy in a male: focus on a novel LAMP-2 mutation. (18282207)
2008
33
Danon disease: a novel Lamp-2 gene mutation in a family with four affected members. (18061453)
2008
34
Gene symbol: LAMP2. Disease: Danon disease. (20960602)
2008
35
Retinopathy in Danon disease. (17296900)
2007
36
Danon disease presenting with dilated cardiomyopathy and a complex phenotype. (17899313)
2007
37
Danon disease as a cause of autophagic vacuolar myopathy. (18377432)
2007
38
LAMP-2 deficiency (Danon disease). (17915578)
2007
39
Danon disease: a case report and literature overview]. (17642461)
2007
40
Massive cardiac hypertrophy in a patient with Danon disease: an intraoperative transesophageal echocardiographic evaluation. (17898373)
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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64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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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:

1 (show all 13)
id Gene Name Type Significance SNP ID Assembly Location
1LAMP2NM_001122606.1(LAMP2): c.65-2A> Gsingle nucleotide variantPathogenicrs397516743GRCh37Chr X, 119590626: 119590626
2LAMP2LAMP2, 2-BP DEL, 1097AAdeletionPathogenic
3LAMP2NM_001122606.1(LAMP2): c.440T> A (p.Leu147Ter)single nucleotide variantPathogenicrs137852527GRCh37Chr X, 119582941: 119582941
4LAMP2LAMP2, IVS6, G-C, +5single nucleotide variantPathogenic
5LAMP2LAMP2, 1-BP INS, 974AinsertionPathogenic
6LAMP2LAMP2, IVS5, G-A, +1single nucleotide variantPathogenic
7LAMP2LAMP2, 1-BP DEL, 14GdeletionPathogenic
8LAMP2LAMP2, 1-BP INS, 883TinsertionPathogenic
9LAMP2LAMP2, 7-BP DELdeletionPathogenic
10LAMP2NM_001122606.1(LAMP2): c.520C> T (p.Gln174Ter)single nucleotide variantPathogenicrs104894857GRCh37Chr X, 119582861: 119582861
11LAMP2NM_001122606.1(LAMP2): c.928G> A (p.Val310Ile)single nucleotide variantPathogenicrs104894858GRCh37Chr X, 119576454: 119576454
12LAMP2NM_001122606.1(LAMP2): c.961T> C (p.Trp321Arg)single nucleotide variantPathogenicrs104894859GRCh37Chr X, 119575717: 119575717
13LAMP2LAMP2, 1-BP DEL, 1219AdeletionPathogenic

Expression for genes affiliated with Danon Disease

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2BioGPS, 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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Sources:
50PathCards, 60Thomson Reuters, 38NCBI BioSystems Database, 30KEGG, 55Reactome
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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 I38
galactose degradation I (Leloir pathway)38
Cori Cycle38
9.4GAA, GLA
2
Show member pathways
Arrhythmogenic right ventricular cardiomyopathy38
9.2PRKAG2, DMD
39.1GAA, GLA, LAMP2

Compounds for genes affiliated with Danon Disease

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45Novoseek, 24HMDB, 61Tocris Bioscience, 11DrugBank
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Compounds related to Danon Disease according to GeneCards/GeneDecks:

(show all 16)
idCompoundScoreTop Affiliating Genes
1melibiose45 2410.7GAA, GLA
2D-Galactose249.7GLA, GAA
31-deoxynojirimycin61 45 1111.7GAA, GLA
4maltose45 1110.7GAA, GLA
5dextran459.7LAMP2, GLA
6D-Glucose249.6GLA, GAA
7n-acetyllactosamine45 2410.6LAMP2, GLA
8mannose459.1GAA, GLA
9gold459.1GAA, DMD
10glycerol45 24 1111.0GLA, DMD
11mannose 6-phosphate45 249.8GAA, GLA, LAMP2, MPP2
12creatinine458.7DMD, GAA, GLA
13arginine458.6GLA, DMD, GAA
14sucrose45 24 1110.5GAA, GLA, LAMP2, DMD
15glucose458.2MPP2, GAA, GLA, DMD
16glycogen45 248.6PRKAG2, GLA, LAMP2, MPP2, GAA, DMD

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
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
  • Antibodies

Sources for Danon Disease

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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet