MCID: DNN001
MIFTS: 45

Danon Disease malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Metabolic diseases, Cardiovascular diseases

Aliases & Classifications for Danon Disease

About this section

Aliases & Descriptions for Danon Disease:

Name: Danon Disease 51 11 47 24 25 53 69 26 12 49 13
Glycogen Storage Disease Type Iib 24 25 38 67
Vacuolar Cardiomyopathy and Myopathy X-Linked 47 69
X-Linked Vacuolar Cardiomyopathy and Myopathy 47 24
Glycogen Storage Disease Iib 24 69
Pseudoglycogenosis Ii 11 69
Antopol Disease 11 47
Gsd-Iib 24 69
Lysosomal Glycogen Storage Disease with Normal Acid Maltase Activity 53
Lysosomal Glycogen Storage Disease Without Acid Maltase Deficiency 69
 
Lysosomal Glycogen Storage Disease with Normal Acid Maltase 25
Glycogen Storage Disease Due to Lamp-2 Deficiency 53
Glycogen Storage Disease Limited to the Heart 47
Glycogenosis Due to Lamp-2 Deficiency 53
Glycogen Storage Disease Type 2b 25
Glycogen Storage Cardiomyopathy 47
Gsd Due to Lamp-2 Deficiency 53
Pseudoglycogenosis 2 47
Gsd2b 69
Dand 69

Characteristics:

Orphanet epidemiological data:

53
danon disease:
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide),<1/1000000 (Sweden); Age of onset: Childhood; Age of death: adult

HPO:

63
danon disease:
Inheritance: x-linked dominant inheritance
Onset and clinical course: phenotypic variability

Classifications:



External Ids:

OMIM51 300257
Disease Ontology11 DOID:0050437
MeSH38 D052120
NCIt44 C84735
SNOMED-CT61 419097006
Orphanet53 ORPHA34587
ICD10 via Orphanet30 E74.0
MedGen36 C0878677

Summaries for Danon Disease

About this section
OMIM:51 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 myopathy, x-linked, with excessive autophagy and cardiomyopathy, and has symptoms including gait disturbance, muscle weakness 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 skin.

Genetics Home Reference:25 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:47 Danon disease is a rare genetic condition characterized by weakening of the heart muscle (cardiomyopathy), weakening of the muscles used for movement (skeletal muscles myopathy), and intellectual disability. This condition 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 inherited in an X-linked dominant pattern. As a result, males tend to be more severely affected than females and develop symptoms at a younger age. Treatment is aimed at addressing the symptoms present in each individual and may require a team of specialists.   Last updated: 7/12/2016

UniProtKB/Swiss-Prot:69 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:70 Danon disease (or glycogen storage disease Type IIb) is a metabolic disorder. more...

Related Diseases for Danon Disease

About this section

Graphical network of diseases related to Danon Disease:



Diseases related to danon disease

Symptoms for Danon Disease

About this section

Symptoms by clinical synopsis from OMIM:

300257

Clinical features from OMIM:

300257

Human phenotypes related to Danon Disease:

 63 (show all 22)
id Description HPO Frequency HPO Source Accession
1 gait disturbance63 hallmark (90%) HP:0001288
2 muscle weakness63 hallmark (90%) HP:0001324
3 hypertrophic cardiomyopathy63 hallmark (90%) HP:0001639
4 sudden cardiac death63 hallmark (90%) HP:0001645
5 cognitive impairment63 hallmark (90%) HP:0100543
6 intellectual disability63 70% HP:0001249
7 visual impairment63 HP:0000505
8 global developmental delay63 HP:0001263
9 cardiomegaly63 HP:0001640
10 dilated cardiomyopathy63 HP:0001644
11 myocardial fibrosis63 HP:0001685
12 myocardial necrosis63 HP:0001700
13 wolff-parkinson-white syndrome63 HP:0001716
14 pes cavus63 HP:0001761
15 hypokinesia63 HP:0002375
16 elevated serum creatine phosphokinase63 HP:0003236
17 emg63 HP:0003458
18 exercise intolerance63 HP:0003546
19 generalized amyotrophy63 HP:0003700
20 proximal muscle weakness63 HP:0003701
21 exercise-induced muscle cramps63 HP:0003710
22 arrhythmia63 HP:0011675

UMLS symptoms related to Danon Disease:


hypokinesia

Drugs & Therapeutics for Danon Disease

About this section

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

About this section

Genetic tests related to Danon Disease:

id Genetic test Affiliating Genes
1 Danon Disease26 24 LAMP2

Anatomical Context for Danon Disease

About this section

MalaCards organs/tissues related to Danon Disease:

35
Heart, Skeletal muscle, Skin, Brain

Animal Models for Danon Disease or affiliated genes

About this section

Publications for Danon Disease

About this section

Articles related to Danon Disease:

(show top 50)    (show all 90)
idTitleAuthorsYear
1
Protein degradation in a LAMP-2-deficient B-lymphoblastoid cell line from a patient with Danon disease. (27130438)
2016
2
A novel LAMP2 mutation associated with severe cardiac hypertrophy and microvascular remodeling in a female with Danon disease: a case report and literature review. (27497751)
2016
3
The c.65-2A>G splice site mutation is associated with a mild phenotype in Danon disease due to the transcription of normal LAMP2 mRNA. (26748608)
2016
4
Identification of Two Novel LAMP2 Gene Mutations in Danon Disease. (27179547)
2016
5
Identification of LAMP2 Mutations in Early-Onset Danon Disease With Hypertrophic Cardiomyopathy by Targeted Next-Generation Sequencing. (27460667)
2016
6
Ischemic stroke due to hypoperfusion in a patient with a previously unrecognized Danon disease. (27816333)
2016
7
Lymphoma in Danon disease with chronic rhabdomyolysis treated with EPOCH-R: A case report. (27442649)
2016
8
Early onset cardiomyopathy in females with Danon disease. (25900304)
2015
9
LAMP2 flow cytometry in peripheral white blood cells is an established method that facilitates identification of heterozygous Danon disease female patients and mosaic mutation carriers. (25636828)
2015
10
Danon disease: a rare cause of left ventricular hypertrophy with cardiac magnetic resonance follow-up. (26206213)
2015
11
Danon disease: a phenotypic expression of LAMP-2 deficiency. (25589223)
2015
12
Oxidative Stress Mediates Cardiomyocyte Apoptosis in a Human Model of Danon Disease and Heart Failure. (25826782)
2015
13
LAMP-2 deficiency leads to hippocampal dysfunction but normal clearance of neuronal substrates of chaperone-mediated autophagy in a mouse model for Danon disease. (25637286)
2015
14
Early diagnosis of Danon disease: Flow cytometric detection of lysosome-associated membrane protein-2-negative leukocytes. (25458169)
2014
15
Danon disease: clinical features, evaluation, and management. (25228319)
2014
16
Morphologic and clinical aspects of Danon disease in a patient with a mutation c.137G > A in the LAMP-2 gene. (23504560)
2013
17
Danon Disease Due to a Novel LAMP2 Microduplication. (24222494)
2013
18
Consider Danon disease in dilated cardiomyopathy with noncompaction. (23653338)
2013
19
Late profound muscle weakness following heart transplantation due to Danon disease. (23168931)
2013
20
Danon disease as a cause of concentric left ventricular hypertrophy in patients who underwent endomyocardial biopsy. (22108829)
2012
21
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
22
Danon disease: focusing on heart. (22695892)
2012
23
Wolff-Parkinson-White syndrome and concentric left ventricular hypertrophy in a teenager: Danon disease. (22261172)
2012
24
A phenocopy of sarcomeric hypertrophic cardiomyopathy: LAMP2 cardiomyopathy (Danon disease) from China. (22187509)
2012
25
Cardiac magnetic resonance imaging in Danon disease. (22378182)
2012
26
Detection of somatic and germline mosaicism for the LAMP2 gene mutation c.808dupG in a Chinese family with Danon disease. (22750798)
2012
27
Danon disease: intrafamilial phenotypic variability related to a novel LAMP-2 mutation. (21161685)
2011
28
Natural history of Danon disease. (21415759)
2011
29
Danon disease: characteristic late gadolinium enhancement pattern on cardiac magnetic resonance imaging. (21733342)
2011
30
A 13-year-old girl with proximal weakness and hypertrophic cardiomyopathy with Danon disease. (20513107)
2010
31
Functional performance and muscle strength phenotypes in men and women with Danon disease. (21104865)
2010
32
A young patient with Danon disease receives two ICD shocks: why? (20230469)
2010
33
Electron microscopic findings in skin biopsies from patients with Danon disease. (21070164)
2010
34
Danon disease: further clinical and molecular heterogeneity. (19373884)
2009
35
Extension of the clinical spectrum of Danon disease. (18413590)
2008
36
Danon disease due to a novel splice mutation in the LAMP2 gene. (18004770)
2008
37
Cardioembolic stroke in Danon disease. (18312451)
2008
38
Danon disease: an unusual presentation of autism. (18555174)
2008
39
Gene symbol: LAMP2. Disease: Danon disease. (20960602)
2008
40
Danon disease as a cause of autophagic vacuolar myopathy. (18377432)
2007
41
LAMP-2 deficiency (Danon disease). (17915578)
2007
42
Retinopathy in Danon disease. (17296900)
2007
43
Ophthalmic manifestations of Danon disease. (16751040)
2006
44
Novel Lamp-2 gene mutation and successful treatment with heart transplantation in a large family with Danon disease. (16372318)
2006
45
Generalized lysosome-associated membrane protein-2 defect explains multisystem clinical involvement and allows leukocyte diagnostic screening in Danon disease. (16565504)
2006
46
Danon disease as an underrecognized cause of hypertrophic cardiomyopathy in children. (16144992)
2005
47
Autophagic vacuoles with sarcolemmal features delineate Danon disease and related myopathies. (15977643)
2005
48
Charcot-Marie-Tooth features and maculopathy in a patient with Danon disease. (15505188)
2004
49
Disease model: LAMP-2 enlightens Danon disease. (11427988)
2001
50
Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease). (10972294)
2000

Variations for Danon Disease

About this section

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

69
id Symbol AA change Variation ID SNP ID
1LAMP2p.Trp321ArgVAR_026230rs104894859

Clinvar genetic disease variations for Danon Disease:

5 (show all 37)
id Gene Variation Type Significance SNP ID Assembly Location
1LAMP2NM_002294.2(LAMP2): c.877C> T (p.Arg293Ter)SNVPathogenicrs727503118GRCh37Chr X, 119576505: 119576505
2LAMP2NM_002294.2(LAMP2): c.864+1G> TSNVPathogenicrs727503119GRCh37Chr X, 119580159: 119580159
3LAMP2NM_002294.2(LAMP2): c.183+1G> ASNVLikely pathogenicrs727503120GRCh37Chr X, 119590505: 119590505
4LAMP2NM_002294.2(LAMP2): c.929-1G> ASNVLikely 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> ASNVPathogenicrs727504742GRCh37Chr X, 119575584: 119575584
11LAMP2NC_000023.11: g.(?_120431323)_(120441894_?)deldeletionLikely pathogenicGRCh38Chr X, 120431323: 120441894
12LAMP2NM_002294.2(LAMP2): c.795C> A (p.Cys265Ter)SNVLikely pathogenic, Pathogenicrs730880483GRCh37Chr X, 119580229: 119580229
13LAMP2NM_002294.2(LAMP2): c.588_589insCAACA (p.Val197Glnfs)insertionPathogenicrs730880492GRCh38Chr X, 120447993: 120447994
14LAMP2NM_002294.2(LAMP2): c.(?_398)-60_(741_?)+68deldeletionLikely pathogenicGRCh38Chr X, 120447773: 120449188
15LAMP2NM_002294.2(LAMP2): c.912T> G (p.Tyr304Ter)SNVLikely pathogenicrs876657648GRCh38Chr X, 120442615: 120442615
16LAMP2NM_002294.2(LAMP2): c.294G> A (p.Trp98Ter)SNVPathogenicrs876657696GRCh38Chr X, 120455460: 120455460
17LAMP2NM_002294.2(LAMP2): c.463delA (p.Ser155Valfs)deletionLikely pathogenicrs193922649GRCh37Chr X, 119582918: 119582918
18LAMP2NM_001122606.1(LAMP2): c.183T> A (p.Tyr61Ter)SNVLikely pathogenicrs397516736GRCh37Chr X, 119590506: 119590506
19LAMP2NM_001122606.1(LAMP2): c.183T> G (p.Tyr61Ter)SNVLikely pathogenicrs397516736GRCh37Chr X, 119590506: 119590506
20LAMP2NM_001122606.1(LAMP2): c.191delT (p.Val64Glufs)deletionLikely pathogenicrs397516738GRCh37Chr X, 119589418: 119589418
21LAMP2NM_001122606.1(LAMP2): c.217dupA (p.Thr73Asnfs)duplicationLikely pathogenicrs397516739GRCh37Chr X, 119589392: 119589392
22LAMP2NM_002294.2(LAMP2): c.293G> A (p.Trp98Ter)SNVPathogenicrs397516740GRCh37Chr X, 119589316: 119589316
23LAMP2NM_002294.2(LAMP2): c.65-2A> GSNVPathogenicrs397516743GRCh37Chr X, 119590626: 119590626
24LAMP2NM_002294.2(LAMP2): c.864+3_864+6delGAGTdeletionLikely pathogenic, Pathogenicrs397516751GRCh37Chr X, 119580154: 119580157
25LAMP2NM_002294.2(LAMP2): c.865-1G> CSNVLikely pathogenicrs397516752GRCh37Chr X, 119576518: 119576518
26LAMP2LAMP2, 2-BP DEL, 1097AAdeletionPathogenicChr na, -1: -1
27LAMP2NM_001122606.1(LAMP2): c.440T> A (p.Leu147Ter)SNVPathogenicrs137852527GRCh37Chr X, 119582941: 119582941
28LAMP2LAMP2, IVS6, G-C, +5SNVPathogenicChr na, -1: -1
29LAMP2LAMP2, 1-BP INS, 974AinsertionPathogenicChr na, -1: -1
30LAMP2LAMP2, IVS5, G-A, +1SNVPathogenicChr na, -1: -1
31LAMP2LAMP2, 1-BP DEL, 14GdeletionPathogenicChr na, -1: -1
32LAMP2LAMP2, 1-BP INS, 883TinsertionPathogenicChr na, -1: -1
33LAMP2LAMP2, 7-BP DELdeletionPathogenicChr na, -1: -1
34LAMP2NM_001122606.1(LAMP2): c.520C> T (p.Gln174Ter)SNVPathogenicrs104894857GRCh37Chr X, 119582861: 119582861
35LAMP2NM_002294.2(LAMP2): c.928G> A (p.Val310Ile)SNVPathogenicrs104894858GRCh37Chr X, 119576454: 119576454
36LAMP2NM_001122606.1(LAMP2): c.961T> C (p.Trp321Arg)SNVPathogenicrs104894859GRCh37Chr X, 119575717: 119575717
37LAMP2LAMP2, 1-BP DEL, 1219AdeletionPathogenicChr na, -1: -1

Expression for genes affiliated with Danon Disease

About this section
Search GEO for disease gene expression data for Danon Disease.

Pathways for genes affiliated with Danon Disease

About this section

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

About this section

Cellular components related to Danon Disease according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1late endosome membraneGO:00319029.9LAMP2, VPS4A
2lysosomal lumenGO:00432029.9GAA, LAMP2
3late endosomeGO:00057709.7LAMP2, VPS4A
4lysosomeGO:00057648.3GAA, LAMP2, VMA21, VPS4A

Biological processes related to Danon Disease according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1glycogen metabolic processGO:00059779.6GAA, PRKAG2
2muscle cell cellular homeostasisGO:00467169.6GAA, LAMP2

Sources for Danon Disease

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet