MCID: DNN001
MIFTS: 45

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 pancreatitis, 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 t cells.

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 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

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

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, T cells, Monocytes, Testes, Lung, B 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 78)
idTitleAuthorsYear
1
Economic Evaluation For The Rapid Test DppAr Hiv-Syphilis Assay With Immunochromatography In Pregnant Women In Mexico. (26534603)
2015
2
Treatment, Outcomes, and Clinical Trial Participation in Elderly Patients With Metastatic Pancreas Adenocarcinoma. (26072442)
2015
3
Alterations in STriatal-Enriched protein tyrosine Phosphatase expression, activation, and downstream signaling in early and late stages of the YAC128 Huntington's disease mouse model. (24588402)
2014
4
Evaluation of the aniseikonia inspector version 3 in school-aged children. (24705481)
2014
5
Prognostic value of cancer stem cell marker aldehyde dehydrogenase in ovarian cancer: a meta-analysis. (24282568)
2013
6
Antigen-specific immunomodulation for type 1 diabetes by novel recombinant antibodies directed against diabetes-associates auto-reactive T cell epitope. (24090977)
2013
7
Familial LCAT deficiency in a child with nephrotic syndrome. (23391322)
2013
8
Helicobacter pylori cag pathogenicity island (cagPAI) involved in bacterial internalization and IL-8 induced responses via NOD1- and MyD88-dependent mechanisms in human biliary epithelial cells. (24143223)
2013
9
An anatomic study of the epiphyseal tubercle and its importance in the pathogenesis of slipped capital femoral epiphysis. (23515995)
2013
10
Delayed Onset of Peroneal Neuropathy After Minor Ankle Torsion in a 9-Year-Old Boy. (23435281)
2013
11
Characterizing the functional consequences of haploinsufficiency of NELF-A (WHSC2) and SLBP identifies novel cellular phenotypes in Wolf-Hirschhorn syndrome. (22328085)
2012
12
Beriberi disease: is it still present in the United States? (22800868)
2012
13
Heat shock protein 70/peptide complexes: potent mediators for the generation of antiviral T cells particularly with regard to low precursor frequencies. (21992180)
2011
14
Congenital hypothyroidism: managing the hinterland between fact and theory. (20959358)
2011
15
Scrotal hernia of the ureter in association with posterior urethral valves. (19539534)
2010
16
Socio-demographic and clinical aspects of rheumatoid arthritis. (20084988)
2009
17
Anaesthetic management of an adult patient with DOOR syndrome: a case report. (19830001)
2009
18
The effects of neuregulin1 on brain function in controls and patients with schizophrenia and bipolar disorder. (18585932)
2008
19
Role of vitamin E supplementation on serum levels of copper and zinc in hemolytic anemic patients with G6PD deficiency. (18946458)
2008
20
Atypical presentation of idiopathic granulomatous myocarditis mimicking idiopathic giant cell myocarditis: diagnostic, therapeutic and prognostic insights. (18266775)
2008
21
Prevention of excitotoxicity in primary retinal ganglion cells by (+)-pentazocine, a sigma receptor-1 specific ligand. (17898305)
2007
22
Gene expression profiles in T24 human bladder carcinoma cells by inhibiting an L-type amino acid transporter, LAT1. (17489360)
2007
23
Regarding "Giant-cell temporal arteritis in a 17-year-old male". (17098557)
2006
24
The heat shock protein 90-CDC37 chaperone complex is required for signaling by types I and II interferons. (16280321)
2006
25
Recognition and cleavage of primary microRNA precursors by the nuclear processing enzyme Drosha. (15565168)
2005
26
Recurrent intestinal obstruction and anaemia--giant lipoma of the caecum. (16440595)
2005
27
Rapid disruption of intestinal barrier function by gliadin involves altered expression of apical junctional proteins. (16099460)
2005
28
Association of tumor necrosis factor receptor type 2 +587 gene polymorphism with severe chronic periodontitis. (15142217)
2004
29
Changes in adrenergic and cholinergic innervation of the external genitalia in alcohol and drug intoxication]. (14584407)
2003
30
The C(-260)>T gene polymorphism in the promoter of the CD14 monocyte receptor gene is not associated with acute myocardial infarction. (14648231)
2003
31
Protein kinase C (PKC) phosphorylation of the Ca2+ o-sensing receptor (CaR) modulates functional interaction of G proteins with the CaR cytoplasmic tail. (12409307)
2002
32
Dinara - new natural focus of hemorrhagic fever with renal syndrome in Croatia. (12402400)
2002
33
p80 ROKalpha binding protein is a novel splice variant of CRMP-1 which associates with CRMP-2 and modulates RhoA-induced neuronal morphology. (12482610)
2002
34
Expression of herstatin, an autoinhibitor of HER-2/neu, inhibits transactivation of HER-3 by HER-2 and blocks EGF activation of the EGF receptor. (11526509)
2001
35
Molecular analysis of 40 Italian patients with mucopolysaccharidosis type II: New mutations in the iduronate-2-sulfatase (IDS) gene. (11462244)
2001
36
Magnitude of trachoma and barriers to uptake of lid surgery in a rural community of northern Nigeria. (11471087)
2001
37
Vav2 activates Rac1, Cdc42, and RhoA downstream from growth factor receptors but not beta1 integrins. (10982832)
2000
38
Thymidylate synthase expression in patients with colorectal carcinoma using a polyclonal thymidylate synthase antibody in comparison to the TS 106 monoclonal antibody. (10820149)
2000
39
Proximal gastric motor activity in response to a liquid meal in type I diabetes mellitus with autonomic neuropathy. (9539642)
1998
40
Differential expression of N-cadherin in pleural mesotheliomas and E-cadherin in lung adenocarcinomas in formalin-fixed, paraffin-embedded tissues. (9190996)
1997
41
Comparison of symptoms after the consumption of milk or lactose-hydrolysed milk by people with self-reported severe lactose intolerance. (16844009)
1996
42
The Na+, K+ pump in skeletal muscle: quantification, regulation and functional significance. (8729682)
1996
43
Triggering of the human interleukin-6 gene by interferon-gamma and tumor necrosis factor-alpha in monocytic cells involves cooperation between interferon regulatory factor-1, NF kappa B, and Sp1 transcription factors. (7499267)
1995
44
Divergence of glutamate and glutamine aminoacylation pathways: providing the evolutionary rationale for mischarging. (7783222)
1995
45
Tubuloreticular structures in pyridoxine deficiency. (8385515)
1993
46
Prenyl modification of guanine nucleotide regulatory protein gamma 2 subunits is not required for interaction with the transducin alpha subunit or rhodopsin. (8430087)
1993
47
Anterior decompression and arthrodesis of the cervical spine: long-term motor improvement. Part II--Improvement in complete traumatic quadriplegia. (1624484)
1992
48
Classification of obese patients and complications related to the distribution of surplus fat. (2134524)
1990
49
Recombinant interleukin-2 and adoptive immunotherapy alternated with dacarbazine therapy in melanoma: a National Biotherapy Study Group trial. (2199682)
1990
50
Familial Nevus of Ota. (7294625)
1981

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