MCID: DNN001
MIFTS: 45

Danon Disease malady

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

Aliases & Classifications for Danon Disease

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Aliases & Descriptions for Danon Disease:

Name: Danon Disease 52 11 48 24 25 54 70 27 12 50 13
Glycogen Storage Disease Type Iib 24 25 39 68
Vacuolar Cardiomyopathy and Myopathy X-Linked 48 70
X-Linked Vacuolar Cardiomyopathy and Myopathy 48 24
Glycogen Storage Disease Iib 24 70
Pseudoglycogenosis Ii 11 70
Antopol Disease 11 48
Gsd-Iib 24 70
Lysosomal Glycogen Storage Disease with Normal Acid Maltase Activity 54
Lysosomal Glycogen Storage Disease Without Acid Maltase Deficiency 70
 
Lysosomal Glycogen Storage Disease with Normal Acid Maltase 25
Glycogen Storage Disease Due to Lamp-2 Deficiency 54
Glycogen Storage Disease Limited to the Heart 48
Glycogenosis Due to Lamp-2 Deficiency 54
Glycogen Storage Disease Type 2b 25
Glycogen Storage Cardiomyopathy 48
Gsd Due to Lamp-2 Deficiency 54
Pseudoglycogenosis 2 48
Gsd2b 70
Dand 70

Characteristics:

Orphanet epidemiological data:

54
danon disease:
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide),<1/1000000 (Sweden); Age of onset: Childhood; Age of death: adult

HPO:

64
danon disease:
Inheritance: x-linked dominant inheritance
Onset and clinical course: phenotypic variability

Classifications:



External Ids:

OMIM52 300257
Disease Ontology11 DOID:0050437
MeSH39 D052120
NCIt45 C84735
SNOMED-CT62 419097006
Orphanet54 ORPHA34587
ICD10 via Orphanet31 E74.0
MedGen37 C0878677

Summaries for Danon Disease

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OMIM:52 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.

UniProtKB/Swiss-Prot:70 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.

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:48 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

Wikipedia:71 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 diseases related to Danon Disease:



Diseases related to danon disease

Symptoms & Phenotypes for Danon Disease

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Symptoms by clinical synopsis from OMIM:

300257

Clinical features from OMIM:

300257

Human phenotypes related to Danon Disease:

 64 (show all 22)
id Description HPO Frequency HPO Source Accession
1 gait disturbance64 hallmark (90%) HP:0001288
2 muscle weakness64 hallmark (90%) HP:0001324
3 hypertrophic cardiomyopathy64 hallmark (90%) HP:0001639
4 sudden cardiac death64 hallmark (90%) HP:0001645
5 cognitive impairment64 hallmark (90%) HP:0100543
6 intellectual disability64 70% HP:0001249
7 visual impairment64 HP:0000505
8 global developmental delay64 HP:0001263
9 cardiomegaly64 HP:0001640
10 dilated cardiomyopathy64 HP:0001644
11 myocardial fibrosis64 HP:0001685
12 myocardial necrosis64 HP:0001700
13 wolff-parkinson-white syndrome64 HP:0001716
14 pes cavus64 HP:0001761
15 hypokinesia64 HP:0002375
16 elevated serum creatine phosphokinase64 HP:0003236
17 emg64 HP:0003458
18 exercise intolerance64 HP:0003546
19 generalized amyotrophy64 HP:0003700
20 proximal muscle weakness64 HP:0003701
21 exercise-induced muscle cramps64 HP:0003710
22 arrhythmia64 HP:0011675

UMLS symptoms related to Danon Disease:


hypokinesia

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 Disease27 24 LAMP2

Anatomical Context for Danon Disease

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MalaCards organs/tissues related to Danon Disease:

36
Heart, Skeletal muscle, Skin, Brain

Publications for Danon Disease

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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 of cardiomyopathy and intellectual disability in a girl with Danon disease associated with a de novo novel mutation of the LAMP2 gene. (27145725)
2016
9
Cardiac arrhythmias in patients with Danon disease. (27742774)
2016
10
Danon disease - dysregulation of autophagy in a multisystem disorder with cardiomyopathy. (27165304)
2016
11
Severe left ventricular hypertrophy and marked cardiac fibrosis in Danon disease. (27395820)
2016
12
Amelioration of X-Linked Related Autophagy Failure in Danon Disease With DNA Methylation Inhibitor. (27678261)
2016
13
Early onset cardiomyopathy in females with Danon disease. (25900304)
2015
14
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
15
Danon disease: a rare cause of left ventricular hypertrophy with cardiac magnetic resonance follow-up. (26206213)
2015
16
Danon disease: a phenotypic expression of LAMP-2 deficiency. (25589223)
2015
17
Oxidative Stress Mediates Cardiomyocyte Apoptosis in a Human Model of Danon Disease and Heart Failure. (25826782)
2015
18
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
19
Danon disease and a new mutation of the LAMP-2 gene in a Spanish family. (26385016)
2015
20
THE PHYSIOLOGY OF THE RETINAL PIGMENT EPITHELIUM IN DANON DISEASE. (26398689)
2015
21
Early diagnosis of Danon disease: Flow cytometric detection of lysosome-associated membrane protein-2-negative leukocytes. (25458169)
2014
22
Danon disease: clinical features, evaluation, and management. (25228319)
2014
23
Novel LAMP2 mutations in Chinese patients with Danon disease cause varying degrees of clinical severity. (24691104)
2014
24
Asymptomatic young man with Danon disease. (24955057)
2014
25
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
26
Morphologic and clinical aspects of Danon disease in a patient with a mutation c.137G > A in the LAMP-2 gene. (23504560)
2013
27
Danon Disease Due to a Novel LAMP2 Microduplication. (24222494)
2013
28
Consider Danon disease in dilated cardiomyopathy with noncompaction. (23653338)
2013
29
Late profound muscle weakness following heart transplantation due to Danon disease. (23168931)
2013
30
Cystoid macular edema in a patient with Danon disease. (23571262)
2013
31
Danon disease : A novel mutation in the LAMP-2 gene and ophthalmic abnormality. (23955649)
2013
32
Lysosomal storage and advanced senescence in the brain of LAMP-2-deficient Danon disease. (23262972)
2013
33
Danon disease as a cause of concentric left ventricular hypertrophy in patients who underwent endomyocardial biopsy. (22108829)
2012
34
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
35
Danon disease: focusing on heart. (22695892)
2012
36
Wolff-Parkinson-White syndrome and concentric left ventricular hypertrophy in a teenager: Danon disease. (22261172)
2012
37
A phenocopy of sarcomeric hypertrophic cardiomyopathy: LAMP2 cardiomyopathy (Danon disease) from China. (22187509)
2012
38
Cardiac magnetic resonance imaging in Danon disease. (22378182)
2012
39
Detection of somatic and germline mosaicism for the LAMP2 gene mutation c.808dupG in a Chinese family with Danon disease. (22750798)
2012
40
Incremental value of three-dimensional strain imaging in Danon disease. (22581284)
2012
41
Cone-rod dystrophy can be a manifestation of Danon disease. (22290069)
2012
42
Sudden death associated with danon disease in women. (22074992)
2012
43
Cone-rod dystrophy in Danon disease. (22407291)
2012
44
Danon disease caused by two novel mutations of the LAMP2 gene: implications for two ends of the clinical spectrum. (22541782)
2012
45
Danon disease: intrafamilial phenotypic variability related to a novel LAMP-2 mutation. (21161685)
2011
46
Natural history of Danon disease. (21415759)
2011
47
Danon disease: characteristic late gadolinium enhancement pattern on cardiac magnetic resonance imaging. (21733342)
2011
48
Danon disease presenting as severe myocardial hypertrophy. (21816855)
2011
49
A 13-year-old girl with proximal weakness and hypertrophic cardiomyopathy with Danon disease. (20513107)
2010
50
Functional performance and muscle strength phenotypes in men and women with Danon disease. (21104865)
2010

Variations for Danon Disease

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

70
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

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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
1lysosomal lumenGO:004320210.2GAA, LAMP2
2late endosomeGO:000577010.2LAMP2, VPS4A
3late endosome membraneGO:003190210.2LAMP2, 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:00059779.8GAA, PRKAG2
2muscle cell cellular homeostasisGO:00467169.6GAA, LAMP2

Sources for Danon Disease

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet