DAND
MCID: DNN001
MIFTS: 58

Danon Disease (DAND)

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

Aliases & Classifications for Danon Disease

MalaCards integrated aliases for Danon Disease:

Name: Danon Disease 56 12 52 25 58 73 36 29 13 54 6 15 39
Glycogen Storage Disease Type Iib 25 43 71
Pseudoglycogenosis Ii 56 12 73
Antopol Disease 56 12 52
Vacuolar Cardiomyopathy and Myopathy X-Linked 52 73
Glycogen Storage Disease Type 2b 25 17
Glycogen Storage Disease Iib 56 73
Lysosomal Glycogen Storage Disease Without Acid Maltase Deficiency, Formerly 56
Lysosomal Glycogen Storage Disease with Normal Acid Maltase Activity 58
Lysosomal Glycogen Storage Disease Without Acid Maltase Deficiency 73
Lysosomal Glycogen Storage Disease with Normal Acid Maltase 25
Glycogen Storage Disease Due to Lamp-2 Deficiency 58
Vacuolar Cardiomyopathy and Myopathy, X-Linked 56
Glycogen Storage Disease Iib; Gsd2b, Formerly 56
Glycogen Storage Disease Limited to the Heart 52
X-Linked Vacuolar Cardiomyopathy and Myopathy 52
Glycogenosis Due to Lamp-2 Deficiency 58
Glycogen Storage Cardiomyopathy 52
Gsd Due to Lamp-2 Deficiency 58
Pseudoglycogenosis 2 52
Gsd Iib, Formerly 56
Gsd2b, Formerly 56
Gsd-Iib 73
Gsd2b 73
Dand 73

Characteristics:

Orphanet epidemiological data:

58
glycogen storage disease due to lamp-2 deficiency
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide),<1/1000000 (Sweden); Age of onset: Childhood; Age of death: adult;

OMIM:

56
Miscellaneous:
phenotypic variability
not all patients have skeletal muscle symptoms or mental retardation
sudden death in affected males occurs in teens
sudden death in affected females occurs in the forties
females often show milder phenotype with later onset of cardiac symptoms

Inheritance:
x-linked dominant


HPO:

31
danon disease:
Inheritance x-linked dominant inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Inborn errors of metabolism


Summaries for Danon Disease

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. Cardiomyopathy is the most common symptom of Danon disease and occurs in all males with the condition. Most affected men have hypertrophic cardiomyopathy, which is a thickening of the heart muscle that may make it harder for the heart to pump blood. Other affected males have dilated cardiomyopathy, which is a condition that weakens and enlarges the heart, preventing it from pumping blood efficiently. Some affected men with hypertrophic cardiomyopathy later develop dilated cardiomyopathy. Either type of cardiomyopathy can lead to heart failure and premature death. Most women with Danon disease also develop cardiomyopathy; of the women who have this feature, about half have hypertrophic cardiomyopathy, and the other half have dilated cardiomyopathy. Affected individuals can have other heart-related signs and symptoms, including a sensation of fluttering or pounding in the chest (palpitations), an abnormal heartbeat (arrhythmia), or chest pain. Many affected individuals have abnormalities of the electrical signals that control the heartbeat (conduction abnormalities). People with Danon disease are often affected by a specific conduction abnormality known as cardiac preexcitation. The type of cardiac preexcitation most often seen in people with Danon disease is called the Wolff-Parkinson-White syndrome pattern. Skeletal myopathy occurs in most men with Danon disease and about half of affected women. The weakness typically occurs in the muscles of the upper arms, shoulders, neck, and upper thighs. Many males with Danon disease have elevated levels of an enzyme called creatine kinase in their blood, which often indicates muscle disease. Most men with Danon disease, but only a small percentage of affected women, have intellectual disability. If present, the disability is usually mild. There can be other signs and symptoms of the condition in addition to the three characteristic features. Several affected individuals have had gastrointestinal disease, breathing problems, or visual abnormalities.

MalaCards based summary : Danon Disease, also known as glycogen storage disease type iib, is related to wolff-parkinson-white syndrome and lysosomal glycogen storage disease. An important gene associated with Danon Disease is LAMP2 (Lysosomal Associated Membrane Protein 2), and among its related pathways/superpathways are Lysosome and Cellular Senescence (REACTOME). Affiliated tissues include heart, skeletal muscle and brain, and related phenotypes are intellectual disability and gait disturbance

Disease Ontology : 12 A lysosomal storage disease that is characterized by cardiomyopathy, skeletal myopathy and intellectual disability and has material basis in mutations in the LAMP2 gene.

NIH Rare Diseases : 52 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 variations (mutations ) in the LAMP2 gene . Danon disease is inherited in an X-linked dominant pattern. In this type of inheritance, 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.

OMIM : 56 Danon disease is an X-linked dominant disorder predominantly affecting cardiac muscle. Skeletal muscle involvement and mental retardation are variable features. The accumulation of glycogen in muscle and lysosomes originally led to the classification of Danon disease as a variant of glycogen storage disease II (Pompe disease; 232300) with 'normal acid maltase' or alpha-glucosidase (GAA; 606800) (Danon et al., 1981). However, Nishino et al. (2000) stated that Danon disease is not a glycogen storage disease because glycogen is not always increased. Sugie et al. (2005) classified Danon disease as a form of autophagic vacuolar myopathy, characterized by intracytoplasmic autophagic vacuoles with sarcolemmal features. The characteristic vacuole is believed to be an autolysosome surrounded by secondarily-generated membranes containing sarcolemmal proteins, basal lamina, and acetylcholinesterase activity. X-linked myopathy with excessive autophagy (XMEA; 310440) is a distinct disorder with similar pathologic features. (300257)

KEGG : 36 Danon disease is an X-linked disorder caused by deficiency of lysosomal-associated membrane protein Lamp2 and resulting in cardiomyopathy, myopathy, and mental retardation. Originally Danon disease was classificatied as a variant of glycogen storage disease II (Pompe disease). However, at present, it is considered that Danon disease is not a glycogen storage disease because the disease is caused by the primary deficiency of a lysosomal membrane protein instead of a glycolytic enzyme and detailed pathological features are different from those of Pompe disease.

UniProtKB/Swiss-Prot : 73 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 : 74 Danon disease (or glycogen storage disease Type IIb) is a metabolic disorder. Danon disease is an... more...

Related Diseases for Danon Disease

Diseases related to Danon Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 87)
# Related Disease Score Top Affiliating Genes
1 wolff-parkinson-white syndrome 32.4 PRKAG2 MYBPC3 LAMP2
2 lysosomal glycogen storage disease 31.3 LAMP2 GAA
3 atrial standstill 1 30.7 PRKAG2 MYBPC3 MPP2 LAMP2 GAA
4 myopathy, x-linked, with excessive autophagy 30.5 VMA21 TFEB PIK3R4 PIK3C3 LAMP2 EPG5
5 fabry disease 30.2 PRKAG2 LAMP2 LAMP1
6 glycogen storage disease ii 30.1 TFEB PRKAG2 LAMP2 GAA
7 myopathy, autophagic vacuolar, infantile-onset 11.5
8 myopathy 10.9
9 hypertrophic cardiomyopathy 10.8
10 alacrima, achalasia, and mental retardation syndrome 10.6
11 dilated cardiomyopathy 10.5
12 glycogen storage disease 10.5
13 muscular glycogenosis 10.3
14 salla disease 10.3 LAMP2 LAMP1
15 phosphatase, acid, of tissues 10.3 LAMP2 LAMP1 GAA
16 glycogen storage disease iv 10.3 VMA21 PRKAG2 GAA
17 cardiac conduction defect 10.2
18 cardiac arrest 10.2
19 pustulosis of palm and sole 10.2
20 rubella 10.2
21 psoriasis 10.2
22 deaf1-associated disorders 10.2
23 spinocerebellar ataxia, autosomal recessive 20 10.2 LAMP1 EPG5
24 alcohol-related neurodevelopmental disorder 10.1 VMA21 EPG5
25 mucolipidosis iv 10.1 TFEB LAMP1 ARSH
26 cone-rod dystrophy 2 10.1
27 myopia 10.1
28 lysosomal storage disease 10.1
29 muscular atrophy 10.1
30 fundus dystrophy 10.1
31 inherited retinal disorder 10.1
32 lysosomal disease 10.1
33 mucolipidosis 10.1 TFEB LAMP1 ARSH
34 rare cardiomyopathy 10.0 PRKAG2 MYBPC3 LAMP2
35 cardiomyopathy, familial hypertrophic, 6 10.0
36 sinoatrial node disease 10.0
37 sick sinus syndrome 10.0
38 acute laryngopharyngitis 10.0 BECN1 ATG7 ATG12
39 glycoproteinosis 10.0 LAMP1 ARSH
40 hypercholesterolemia, familial, 1 10.0
41 migraine with or without aura 1 10.0
42 cardiomyopathy, familial hypertrophic, 1 10.0
43 autism 10.0
44 graves disease 1 10.0
45 mental retardation, x-linked, syndromic, cabezas type 10.0
46 cardiomyopathy, dilated, 3b 10.0
47 stroke, ischemic 10.0
48 yemenite deaf-blind hypopigmentation syndrome 10.0
49 ventricular fibrillation, paroxysmal familial, 1 10.0
50 anxiety 10.0

Graphical network of the top 20 diseases related to Danon Disease:



Diseases related to Danon Disease

Symptoms & Phenotypes for Danon Disease

Human phenotypes related to Danon Disease:

58 31 (show all 22)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 very rare (1%) Very frequent (99-80%) HP:0001249
2 gait disturbance 58 31 hallmark (90%) Very frequent (99-80%) HP:0001288
3 hypertrophic cardiomyopathy 58 31 hallmark (90%) Very frequent (99-80%) HP:0001639
4 dilated cardiomyopathy 58 31 hallmark (90%) Very frequent (99-80%) HP:0001644
5 muscle flaccidity 58 31 hallmark (90%) Very frequent (99-80%) HP:0010547
6 cardiorespiratory arrest 58 31 hallmark (90%) Very frequent (99-80%) HP:0006543
7 global developmental delay 31 HP:0001263
8 visual impairment 31 HP:0000505
9 cognitive impairment 31 HP:0100543
10 cardiomegaly 31 HP:0001640
11 arrhythmia 31 HP:0011675
12 pes cavus 31 HP:0001761
13 emg: myopathic abnormalities 31 HP:0003458
14 wolff-parkinson-white syndrome 31 HP:0001716
15 proximal muscle weakness 31 HP:0003701
16 hypokinesia 31 HP:0002375
17 exercise intolerance 31 HP:0003546
18 generalized amyotrophy 31 HP:0003700
19 myocardial fibrosis 31 HP:0001685
20 exercise-induced muscle cramps 31 HP:0003710
21 elevated serum creatine kinase 31 HP:0003236
22 myocardial necrosis 31 HP:0001700

Symptoms via clinical synopsis from OMIM:

56
Cardiovascular Heart:
cardiomegaly
hypertrophic cardiomyopathy
dilated cardiomyopathy
wolff-parkinson-white syndrome
hypokinesia
more
Neurologic Central Nervous System:
cognitive impairment, mild
delayed development
mental retardation (70%)

Head And Neck Eyes:
loss of visual acuity, moderate central, in males (20/60)
normal to near-normal visual acuity in carrier females (20/30-20/20)
fine lamellar white opacities on slit lamp exam in carrier females
near complete loss of peripheral retinal pigment in males
peppered pigmentary mottling of peripheral retinal pigment in carrier females
more
Muscle Soft Tissue:
exercise intolerance
myopathic changes seen on emg
glycogen accumulation in myofibrils and lysosomes
severely decreased or absent lamp2 protein
proximal muscle weakness (85% of patients)
more
Laboratory Abnormalities:
increased serum creatine kinase

Skeletal Feet:
pes cavus (uncommon)

Clinical features from OMIM:

300257

GenomeRNAi Phenotypes related to Danon Disease according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.77 ATG12 ATG5 ATG7 BECN1 GABARAPL2 LAMP2
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.77 ATG12 ATG5 ATG7 BECN1 GABARAPL2 LAMP2

MGI Mouse Phenotypes related to Danon Disease:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.18 ATG12 ATG5 ATG7 BECN1 EPG5 GAA
2 cardiovascular system MP:0005385 10.02 ATG5 ATG7 BECN1 GAA GABARAPL1 GABARAPL2
3 cellular MP:0005384 10 ATG12 ATG5 ATG7 BECN1 EPG5 GAA
4 growth/size/body region MP:0005378 9.93 ATG12 ATG5 ATG7 BECN1 EPG5 GAA
5 liver/biliary system MP:0005370 9.56 ATG5 ATG7 BECN1 EPG5 LAMP2 PIK3C3
6 muscle MP:0005369 9.28 ATG5 ATG7 EPG5 GAA LAMP2 MYBPC3

Drugs & Therapeutics for Danon Disease

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Gene Therapy for Danon Disease (DD): A Clinical Study Evaluating the Infusion of a Recombinant Adeno-Associated Virus Serotype 9 (rAAV9) Capsid Containing the Human Lysosome-Associated Membrane Protein 2 Isoform B (LAMP2B) Transgene (RP-A501; AAV9.LAMP2B) in Male Patients With Danon Disease Recruiting NCT03882437 Phase 1
2 The Natural History of Danon Disease Recruiting NCT03766386

Search NIH Clinical Center for Danon Disease

Cochrane evidence based reviews: glycogen storage disease type iib

Genetic Tests for Danon Disease

Genetic tests related to Danon Disease:

# Genetic test Affiliating Genes
1 Danon Disease 29 LAMP2

Anatomical Context for Danon Disease

MalaCards organs/tissues related to Danon Disease:

40
Heart, Skeletal Muscle, Brain, Liver, Skin, Colon

Publications for Danon Disease

Articles related to Danon Disease:

(show top 50) (show all 209)
# Title Authors PMID Year
1
Danon disease presenting with dilated cardiomyopathy and a complex phenotype. 54 61 56 6
17899313 2007
2
Asymptomatic hyperCKemia in a case of Danon disease due to a missense mutation in Lamp-2 gene. 54 61 56 6
15907287 2005
3
Glycogen storage diseases presenting as hypertrophic cardiomyopathy. 54 56 6
15673802 2005
4
Danon's disease as a cause of hypertrophic cardiomyopathy: a systematic survey. 54 56 6
15253947 2004
5
Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease). 61 56 6
10972294 2000
6
Lysosomal glycogen storage with normal acid maltase: a familial study with successful heart transplant. 56 6
7919972 1994
7
X-linked dilated cardiomyopathy. Molecular genetic evidence of linkage to the Duchenne muscular dystrophy (dystrophin) gene at the Xp21 locus. 56 6
8504498 1993
8
Dominantly inherited cardioskeletal myopathy with lysosomal glycogen storage and normal acid maltase levels. 56 6
3087571 1986
9
Lysosomal glycogen storage disease without acid maltase deficiency. 56 6
6408499 1983
10
Lysosomal glycogen storage disease with normal acid maltase. 56 6
6450334 1981
11
Clinical outcome and phenotypic expression in LAMP2 cardiomyopathy. 54 61 56
19318653 2009
12
Retinopathy in Danon disease. 54 61 56
17296900 2007
13
Familial X-linked cardiomyopathy (Danon disease): diagnostic confirmation by mutation analysis of the LAMP2gene. 54 61 56
15889279 2005
14
Natural history of Danon disease. 61 56
21415759 2011
15
Ophthalmic manifestations of Danon disease. 61 56
16751040 2006
16
Autophagic vacuoles with sarcolemmal features delineate Danon disease and related myopathies. 61 56
15977643 2005
17
Morphological, clinical and genetic aspects in a family with a novel LAMP-2 gene mutation (Danon disease). 61 56
15792868 2005
18
Charcot-Marie-Tooth features and maculopathy in a patient with Danon disease. 61 56
15505188 2004
19
Germline mosaicism of a novel mutation in lysosome-associated membrane protein-2 deficiency (Danon disease). 61 6
12112061 2002
20
Clinicopathological features of genetically confirmed Danon disease. 61 56
12084876 2002
21
2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC). 6
25173338 2014
22
Sarcolemmal indentation in cardiomyopathy with mental retardation and vacuolar myopathy. 56
7539316 1995
23
Complete heart block with myocardial membrane-bound glycogen and normal peripheral alpha-glucosidase activity. 56
3057987 1988
24
Familial lethal cardiomyopathy with mental retardation and scapuloperoneal muscular dystrophy. 56
3806120 1986
25
A 13-year-old girl with proximal weakness and hypertrophic cardiomyopathy with Danon disease. 54 61
20513107 2010
26
LAMP2 microdeletions in patients with Danon disease. 54 61
20173215 2010
27
[Eludication of pathomechanism of and development of therapy for autophagic vacuolar myopathies]. 54 61
20120346 2010
28
Novel LAMP-2 mutation in a family with Danon disease presenting with hypertrophic cardiomyopathy. 54 61
19057086 2009
29
Danon disease: a novel LAMP2 mutation affecting the pre-mRNA splicing and causing aberrant transcripts and partial protein expression. 54 61
18990578 2008
30
Danon disease: an unusual presentation of autism. 54 61
18555174 2008
31
LAMP-2: a control step for phagosome and autophagosome maturation. 54 61
18376150 2008
32
Danon disease due to a novel splice mutation in the LAMP2 gene. 54 61
18004770 2008
33
[Morphological and clinical aspects of Danon disease]. 54 61
18393115 2008
34
Danon disease with typical early-onset cardiomyopathy in a male: focus on a novel LAMP-2 mutation. 54 61
18282207 2008
35
A novel vacuolar myopathy with dilated cardiomyopathy. 54 61
17873513 2007
36
Danon disease as a cause of autophagic vacuolar myopathy. 54 61
18377432 2007
37
A case of excessive autophagocytosis with multiorgan involvement and low clinical penetrance. 54 61
17821837 2007
38
[Inherited metabolic cardiomyopathies]. 54 61
17546768 2007
39
LAMP-2 positive vacuolar myopathy with dilated cardiomyopathy. 54 61
17541230 2007
40
Roles of LAMP-1 and LAMP-2 in lysosome biogenesis and autophagy. 54 61
16973206 2006
41
Autophagic vacuolar myopathy in twin girls. 54 61
16640643 2006
42
Case of X-linked myopathy with excessive autophagy. 54 61
16901453 2006
43
Generalized lysosome-associated membrane protein-2 defect explains multisystem clinical involvement and allows leukocyte diagnostic screening in Danon disease. 54 61
16565504 2006
44
Novel Lamp-2 gene mutation and successful treatment with heart transplantation in a large family with Danon disease. 54 61
16372318 2006
45
Phenotypic heterogeneity in two unrelated Danon patients associated with the same LAMP-2 gene mutation. 54 61
16217705 2005
46
Danon disease as an underrecognized cause of hypertrophic cardiomyopathy in children. 54 61
16144992 2005
47
Characterization of Danon disease in a male patient and his affected mother. 54 61
14561493 2003
48
A novel form of autophagic vacuolar myopathy with late-onset and multiorgan involvement. 54 61
12847175 2003
49
Identification of a novel LAMP2 mutation responsible for X-chromosomal dominant Danon disease. 54 61
14598234 2003
50
Autophagic vacuolar myopathies. 54 61
12507414 2003

Variations for Danon Disease

ClinVar genetic disease variations for Danon Disease:

6 (show top 50) (show all 155) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 LAMP2 NM_013995.2(LAMP2):c.1093+1G>ASNV Pathogenic 179254 rs727504742 X:119575584-119575584 X:120441729-120441729
2 LAMP2 NM_013995.2(LAMP2):c.877C>T (p.Arg293Ter)SNV Pathogenic 163812 rs727503118 X:119576505-119576505 X:120442650-120442650
3 LAMP2 NM_013995.2(LAMP2):c.851_852del (p.Phe284fs)deletion Pathogenic 179126 rs727504648 X:119580172-119580173 X:120446317-120446318
4 LAMP2 NM_013995.2(LAMP2):c.183+1G>ASNV Pathogenic 163816 rs727503120 X:119590505-119590505 X:120456650-120456650
5 LAMP2 NM_013995.2(LAMP2):c.864+1G>TSNV Pathogenic 163813 rs727503119 X:119580159-119580159 X:120446304-120446304
6 LAMP2 NM_013995.2(LAMP2):c.121del (p.Cys41fs)deletion Pathogenic 179062 rs727504600 X:119590568-119590568 X:120456713-120456713
7 LAMP2 NM_013995.2(LAMP2):c.1020del (p.Gly341fs)deletion Pathogenic 178999 rs727504597 X:119575658-119575658 X:120441803-120441803
8 LAMP2 NM_013995.2(LAMP2):c.584_588dup (p.Val197fs)duplication Pathogenic 180887 rs730880492 X:119581848-119581849 X:120447993-120447994
9 LAMP2 LAMP2, 2-BP DEL, 1097AAdeletion Pathogenic 9973
10 LAMP2 NM_013995.2(LAMP2):c.440T>A (p.Leu147Ter)SNV Pathogenic 9974 rs137852527 X:119582941-119582941 X:120449086-120449086
11 LAMP2 NM_013995.2(LAMP2):c.864+5G>CSNV Pathogenic 9975 rs1352584474 X:119580155-119580155 X:120446300-120446300
12 LAMP2 LAMP2, 1-BP INS, 974Ainsertion Pathogenic 9976
13 LAMP2 NM_013995.2(LAMP2):c.741+1G>ASNV Pathogenic 9977 rs1251075016 X:119581695-119581695 X:120447840-120447840
14 LAMP2 NM_013995.2(LAMP2):c.14del (p.Arg5fs)deletion Pathogenic 9978 rs1183994410 X:119603011-119603011 X:120469156-120469156
15 LAMP2 NM_013995.2(LAMP2):c.883dup (p.Tyr295fs)duplication Pathogenic 9979 rs1327363415 X:119576498-119576499 X:120442643-120442644
16 LAMP2 NM_013995.2(LAMP2):c.36_42del (p.Gly13fs)deletion Pathogenic 9980 rs1436181133 X:119602983-119602989 X:120469128-120469134
17 LAMP2 NM_013995.2(LAMP2):c.520C>T (p.Gln174Ter)SNV Pathogenic 9981 rs104894857 X:119582861-119582861 X:120449006-120449006
18 LAMP2 NM_013995.2(LAMP2):c.928G>A (p.Val310Ile)SNV Pathogenic 9982 rs104894858 X:119576454-119576454 X:120442599-120442599
19 LAMP2 NM_013995.2(LAMP2):c.961T>C (p.Trp321Arg)SNV Pathogenic 9983 rs104894859 X:119575717-119575717 X:120441862-120441862
20 LAMP2 LAMP2, 1-BP DEL, 1219Adeletion Pathogenic 9984
21 LAMP2 NM_013995.2(LAMP2):c.294G>A (p.Trp98Ter)SNV Pathogenic 228356 rs876657696 X:119589315-119589315 X:120455460-120455460
22 LAMP2 NM_013995.2(LAMP2):c.293G>A (p.Trp98Ter)SNV Pathogenic 44423 rs397516740 X:119589316-119589316 X:120455461-120455461
23 LAMP2 NM_013995.2(LAMP2):c.65-2A>GSNV Pathogenic 44427 rs397516743 X:119590626-119590626 X:120456771-120456771
24 LAMP2 NM_013995.2(LAMP2):c.864+3_864+6deldeletion Pathogenic 44442 rs397516751 X:119580154-119580157 X:120446299-120446302
25 LAMP2 NM_013995.2(LAMP2):c.1013C>G (p.Ser338Ter)SNV Pathogenic 409225 rs1060502305 X:119575665-119575665 X:120441810-120441810
26 LAMP2 NM_013995.2(LAMP2):c.788del (p.Gly263fs)deletion Pathogenic 409222 rs1060502303 X:119580236-119580236 X:120446381-120446381
27 LAMP2 NM_013995.2(LAMP2):c.546_548delinsTA (p.Ser183fs)indel Pathogenic 409221 rs1060502302 X:119582833-119582835 X:120448978-120448980
28 LAMP2 NM_013995.2(LAMP2):c.973dup (p.Leu325fs)duplication Pathogenic 409224 rs1556092459 X:119575704-119575705 X:120441849-120441850
29 LAMP2 NM_013995.2(LAMP2):c.962G>A (p.Trp321Ter)SNV Pathogenic 409227 rs1060502306 X:119575716-119575716 X:120441861-120441861
30 LAMP2 NM_013995.2(LAMP2):c.696T>A (p.Cys232Ter)SNV Pathogenic 463159 rs1556101523 X:119581741-119581741 X:120447886-120447886
31 LAMP2 NC_000023.10:g.(?_119562319)_(119603044_?)deldeletion Pathogenic 532015 X:119562319-119603044 X:120428464-120469189
32 LAMP2 NM_013995.2(LAMP2):c.137G>A (p.Trp46Ter)SNV Pathogenic 577660 rs1569371591 X:119590552-119590552 X:120456697-120456697
33 LAMP2 NM_013995.2(LAMP2):c.843T>G (p.Tyr281Ter)SNV Pathogenic 575405 rs1569369194 X:119580181-119580181 X:120446326-120446326
34 LAMP2 NM_013995.2(LAMP2):c.415_469dup (p.Ser157Ter)duplication Pathogenic 566028 rs1569369940 X:119582911-119582912 X:120449056-120449057
35 LAMP2 NM_013995.2(LAMP2):c.205_218del (p.His69fs)deletion Pathogenic 659852 X:119589391-119589404 X:120455536-120455549
36 LAMP2 NM_013995.2(LAMP2):c.138G>A (p.Trp46Ter)SNV Pathogenic 560927 rs1271031981 X:119590551-119590551 X:120456696-120456696
37 LAMP2 NM_013995.2(LAMP2):c.795C>A (p.Cys265Ter)SNV Pathogenic/Likely pathogenic 180874 rs730880483 X:119580229-119580229 X:120446374-120446374
38 LAMP2 NM_013995.2(LAMP2):c.929-1G>ASNV Likely pathogenic 177657 rs727504262 X:119575750-119575750 X:120441895-120441895
39 LAMP2 NM_002294.2(LAMP2):c.(?_398)-60_(741_?)+68deldeletion Likely pathogenic 228268 X:119581628-119583043 X:120447773-120449188
40 LAMP2 NM_013995.2(LAMP2):c.912T>G (p.Tyr304Ter)SNV Likely pathogenic 228269 rs876657648 X:119576470-119576470 X:120442615-120442615
41 LAMP2 NM_002294.2(LAMP2):c.(?_929)_(1233_?)deldeletion Likely pathogenic 179651 X:119565178-119575749 X:120431323-120441894
42 LAMP2 NM_013995.2(LAMP2):c.128_129dup (p.Ala44fs)duplication Likely pathogenic 177994 rs730880344 X:119590559-119590560 X:120456704-120456705
43 LAMP2 NM_013995.2(LAMP2):c.463del (p.Ser155fs)deletion Likely pathogenic 36441 rs193922649 X:119582918-119582918 X:120449063-120449063
44 LAMP2 NM_013995.2(LAMP2):c.190_191del (p.Val64fs)deletion Likely pathogenic 635277 rs1569371330 X:119589418-119589419 X:120455563-120455564
45 LAMP2 NM_013995.2(LAMP2):c.157C>T (p.Arg53Cys)SNV Conflicting interpretations of pathogenicity 367788 rs752321157 X:119590532-119590532 X:120456677-120456677
46 LAMP2 NM_013995.2(LAMP2):c.204C>G (p.Asp68Glu)SNV Conflicting interpretations of pathogenicity 379589 rs376215728 X:119589405-119589405 X:120455550-120455550
47 LAMP2 NM_013995.2(LAMP2):c.339C>T (p.Ser113=)SNV Conflicting interpretations of pathogenicity 44426 rs147369153 X:119589270-119589270 X:120455415-120455415
48 LAMP2 NM_013995.2(LAMP2):c.-4G>CSNV Conflicting interpretations of pathogenicity 44415 rs200297370 X:119603028-119603028 X:120469173-120469173
49 LAMP2 NM_013995.2(LAMP2):c.1171G>A (p.Val391Ile)SNV Conflicting interpretations of pathogenicity 45573 rs144140265 X:119573071-119573071 X:120439216-120439216
50 LAMP2 NM_013995.2(LAMP2):c.517G>A (p.Val173Ile)SNV Conflicting interpretations of pathogenicity 44430 rs141574558 X:119582864-119582864 X:120449009-120449009

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

73
# Symbol AA change Variation ID SNP ID
1 LAMP2 p.Trp321Arg VAR_026230 rs104894859

Expression for Danon Disease

Search GEO for disease gene expression data for Danon Disease.

Pathways for Danon Disease

Pathways related to Danon Disease according to KEGG:

36
# Name Kegg Source Accession
1 Lysosome hsa04142

Pathways related to Danon Disease according to GeneCards Suite gene sharing:

(show all 14)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.02 PRKAG2 PIK3R4 PIK3C3 GABARAPL2 GABARAPL1 BECN1
2
Show member pathways
12.72 PIK3C3 GABARAPL2 GABARAPL1 BECN1 ATG14
3 12.28 SQSTM1 PIK3R4 PIK3C3 GABARAPL2 GABARAPL1 BECN1
4 12.04 GABARAPL2 GABARAPL1 ATG5 ATG12
5
Show member pathways
12.03 PRKAG2 PIK3R4 PIK3C3 GABARAPL2 GABARAPL1 BECN1
6 12.02 PRKAG2 PIK3R4 PIK3C3 GABARAPL2 GABARAPL1 BECN1
7
Show member pathways
11.87 PRKAG2 GABARAPL2 GABARAPL1 ATG12
8 11.8 LAMP2 LAMP1 GAA
9 11.72 SQSTM1 PIK3C3 LAMP2 LAMP1 GABARAPL2 GABARAPL1
10 11.61 TFEB SQSTM1 GABARAPL2 GABARAPL1 BECN1 ATG5
11 11.54 SQSTM1 PIK3R4 PIK3C3 LAMP2 LAMP1 GABARAPL2
12
Show member pathways
11.3 SQSTM1 ATG5 ATG12
13 10.62 PIK3R4 PIK3C3
14 10.57 PIK3R4 PIK3C3

GO Terms for Danon Disease

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

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 10.4 SQSTM1 PRKAG2 PIK3R4 PIK3C3 MYBPC3 LAMP1
2 endosome GO:0005768 10.03 SQSTM1 PIK3R4 PIK3C3 LAMP2 LAMP1 BECN1
3 lysosome GO:0005764 10 VMA21 SQSTM1 LAMP2 LAMP1 GAA EPG5
4 late endosome GO:0005770 9.88 SQSTM1 PIK3R4 PIK3C3 LAMP2 LAMP1
5 axoneme GO:0005930 9.85 PIK3R4 PIK3C3 ATG7 ATG5 ATG14
6 cytoplasmic vesicle GO:0031410 9.85 VMA21 SQSTM1 PIK3R4 PIK3C3 LAMP2 LAMP1
7 phagocytic vesicle GO:0045335 9.81 PIK3C3 LAMP1 BECN1 ATG14
8 ficolin-1-rich granule membrane GO:0101003 9.75 LAMP2 LAMP1 GAA
9 azurophil granule membrane GO:0035577 9.74 LAMP2 LAMP1 GAA
10 phagophore assembly site GO:0000407 9.73 SQSTM1 PIK3C3 BECN1 ATG7
11 autophagosome membrane GO:0000421 9.72 GABARAPL2 GABARAPL1 ATG14
12 phagocytic vesicle membrane GO:0030670 9.72 PIK3R4 PIK3C3 LAMP2 ATG5 ATG12
13 phagophore assembly site membrane GO:0034045 9.67 ATG5 ATG14 ATG12
14 vacuole GO:0005773 9.6 VMA21 LAMP1
15 Mitochondria-associated ER Membrane GO:0044233 9.59 ATG5 ATG14
16 phosphatidylinositol 3-kinase complex, class III, type II GO:0034272 9.58 PIK3R4 PIK3C3 BECN1
17 autolysosome GO:0044754 9.56 SQSTM1 PIK3C3 LAMP2 LAMP1
18 Atg12-Atg5-Atg16 complex GO:0034274 9.54 ATG5 ATG12
19 phosphatidylinositol 3-kinase complex, class III, type I GO:0034271 9.54 PIK3R4 PIK3C3 BECN1
20 autophagosome GO:0005776 9.28 SQSTM1 PIK3R4 PIK3C3 GABARAPL2 GABARAPL1 BECN1
21 phosphatidylinositol 3-kinase complex, class III GO:0035032 9.26 PIK3R4 PIK3C3 BECN1 ATG14

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

(show all 28)
# Name GO ID Score Top Affiliating Genes
1 cellular response to glucose starvation GO:0042149 9.8 PIK3R4 PIK3C3 BECN1 ATG14
2 autophagy of mitochondrion GO:0000422 9.8 SQSTM1 GABARAPL2 GABARAPL1 BECN1 ATG7 ATG5
3 negative regulation of cell death GO:0060548 9.78 BECN1 ATG7 ATG5
4 cellular response to starvation GO:0009267 9.77 PIK3C3 LAMP2 ATG7 ATG5 ATG14
5 autophagosome assembly GO:0000045 9.76 PIK3C3 GABARAPL2 GABARAPL1 BECN1 ATG7 ATG5
6 positive regulation of autophagy GO:0010508 9.74 TFEB BECN1 ATG7
7 autophagosome maturation GO:0097352 9.73 LAMP2 GABARAPL2 GABARAPL1 EPG5
8 cellular response to nitrogen starvation GO:0006995 9.72 GABARAPL2 GABARAPL1 BECN1 ATG7 ATG5
9 regulation of cytokinesis GO:0032465 9.71 PIK3R4 PIK3C3 BECN1
10 lysosome organization GO:0007040 9.7 TFEB GAA BECN1
11 macroautophagy GO:0016236 9.7 SQSTM1 PRKAG2 PIK3R4 PIK3C3 GABARAPL2 GABARAPL1
12 toll-like receptor 9 signaling pathway GO:0034162 9.69 PIK3R4 PIK3C3 EPG5
13 response to mitochondrial depolarisation GO:0098780 9.65 SQSTM1 BECN1 ATG14
14 negative regulation of reactive oxygen species metabolic process GO:2000378 9.64 BECN1 ATG5
15 muscle cell cellular homeostasis GO:0046716 9.63 LAMP2 GAA
16 early endosome to late endosome transport GO:0045022 9.63 PIK3C3 BECN1
17 mitophagy GO:0000423 9.63 SQSTM1 BECN1 ATG14
18 receptor catabolic process GO:0032801 9.62 PIK3R4 BECN1
19 protein lipidation GO:0006497 9.62 PIK3C3 ATG7
20 regulation of protein complex stability GO:0061635 9.61 SQSTM1 ATG14
21 establishment of protein localization to organelle GO:0072594 9.6 LAMP2 LAMP1
22 late endosome to vacuole transport GO:0045324 9.59 PIK3R4 BECN1
23 chaperone-mediated autophagy GO:0061684 9.58 LAMP2 ATG7
24 aggrephagy GO:0035973 9.58 SQSTM1 ATG5
25 C-terminal protein lipidation GO:0006501 9.58 ATG7 ATG5 ATG12
26 autophagy of host cells involved in interaction with symbiont GO:0075044 9.56 ATG7 ATG5
27 autophagy of peroxisome GO:0030242 9.55 PIK3R4 PIK3C3
28 autophagy GO:0006914 9.4 TFEB SQSTM1 PIK3C3 LAMP2 GABARAPL2 GABARAPL1

Molecular functions related to Danon Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ubiquitin protein ligase binding GO:0031625 9.26 SQSTM1 GABARAPL2 GABARAPL1 BECN1
2 GABA receptor binding GO:0050811 9.16 GABARAPL2 GABARAPL1
3 Atg8 ligase activity GO:0019776 8.62 ATG5 ATG12

Sources for Danon Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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