DAND
MCID: DNN001
MIFTS: 59

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 57 12 25 20 43 58 73 36 29 13 54 6 15 39
Glycogen Storage Disease Type Iib 43 44 71
Pseudoglycogenosis Ii 57 12 73
Antopol Disease 57 12 20
Vacuolar Cardiomyopathy and Myopathy X-Linked 20 73
Glycogen Storage Disease Type 2b 43 17
Glycogen Storage Disease Iib 57 73
Lysosomal Glycogen Storage Disease Without Acid Maltase Deficiency, Formerly 57
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 43
Glycogen Storage Disease Due to Lamp-2 Deficiency 58
Vacuolar Cardiomyopathy and Myopathy, X-Linked 57
Glycogen Storage Disease Iib; Gsd2b, Formerly 57
Glycogen Storage Disease Limited to the Heart 20
X-Linked Vacuolar Cardiomyopathy and Myopathy 20
Glycogenosis Due to Lamp-2 Deficiency 58
Glycogen Storage Cardiomyopathy 20
Gsd Due to Lamp-2 Deficiency 58
Pseudoglycogenosis 2 20
Gsd Iib, Formerly 57
Gsd2b, Formerly 57
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®:

57 (Updated 05-Mar-2021)
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


GeneReviews:

25
Penetrance The penetrance in danon disease is age dependent and has not been well studied in the literature. given the severity of the cardiac phenotype, the penetrance is estimated as high or nearly complete in males by the second decade. females appear to also have a high cardiac penetrance that is later in onset compared to males.

Classifications:

Orphanet: 58  
Rare neurological diseases
Inborn errors of metabolism


Summaries for Danon Disease

MedlinePlus Genetics : 43 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.

GARD : 20 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® : 57 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) (Updated 05-Mar-2021)

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...

GeneReviews: NBK554742

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 114)
# Related Disease Score Top Affiliating Genes
1 wolff-parkinson-white syndrome 31.4 PRKAG2 MYH7 MYH6 MYBPC3 LAMP2
2 lysosomal glycogen storage disease 31.0 LAMP2 GAA
3 myopathy, x-linked, with excessive autophagy 30.5 VMA21 PIK3R4 PIK3C3 LAMP2 GAA EPG5
4 cardiac conduction defect 30.4 MYH7 MYH6 MYBPC3
5 hypertrophic cardiomyopathy 30.3 PRKAG2 MYH7 MYH6 MYBPC3 LAMP2 GAA
6 glycogen storage disease ii 30.0 TFEB PRKAG2 LAMP2 GAA
7 fabry disease 30.0 PRKAG2 LAMP2 LAMP1
8 atrial standstill 1 30.0 PRKAG2 MYH7 MYH6 MYBPC3 LAMP2 GAA
9 dilated cardiomyopathy 29.8 PRKAG2 MYH7 MYH6 MYBPC3 LAMP2 GAA
10 myopathy 29.7 VMA21 SQSTM1 PIK3C3 MYH7 MYH6 MYBPC3
11 cardiomyopathy, familial hypertrophic, 1 29.2 PRKAG2 MYH7 MYH6 MYBPC3 LAMP2 CSRP3
12 left ventricular noncompaction 29.2 PRKAG2 MYH7 MYH6 MYBPC3 LAMP2 CSRP3
13 lysosomal storage disease 11.0
14 myopathy, autophagic vacuolar, infantile-onset 11.0
15 alacrima, achalasia, and mental retardation syndrome 10.5
16 glycogen storage disease 10.4
17 muscular glycogenosis 10.4
18 salla disease 10.3 LAMP2 LAMP1
19 phosphatase, acid, of tissues 10.2 LAMP2 LAMP1 GAA
20 mucopolysaccharidosis, type iiib 10.2 TFEB LAMP2 LAMP1
21 mucopolysaccharidosis iii 10.2 TFEB LAMP2 LAMP1
22 cardiac arrest 10.2
23 mucopolysaccharidosis-plus syndrome 10.2 TFEB LAMP2 LAMP1
24 diamond-blackfan anemia 20 10.1 TFEB SQSTM1 LAMP2
25 atrioventricular block 10.1
26 heart disease 10.1
27 fundus dystrophy 10.1
28 inherited retinal disorder 10.1
29 gaucher's disease 10.1 TFEB LAMP2 LAMP1
30 batten-turner congenital myopathy 10.1 MYH7 MYH6 GAA
31 acute laryngopharyngitis 10.0 BECN1 ATG7
32 cone-rod dystrophy 2 10.0
33 fibrosis of extraocular muscles, congenital, 1 10.0
34 ventricular fibrillation, paroxysmal familial, 1 10.0
35 myopia 10.0
36 congestive heart failure 10.0
37 muscular atrophy 10.0
38 learning disability 10.0
39 lysosomal disease 10.0
40 mitral valve insufficiency 10.0 MYH7 MYH6 MYBPC3
41 ebstein anomaly 10.0 MYH7 MYH6 MYBPC3
42 macular degeneration, age-related, 14 10.0 SQSTM1 BECN1 ATG5
43 cardiomyopathy, dilated, 1b 10.0 MYH7 MYH6 MYBPC3
44 cardiomyopathy, familial hypertrophic, 6 10.0
45 sinoatrial node disease 10.0
46 sick sinus syndrome 10.0
47 barth syndrome 10.0 MYH7 MYH6 MYBPC3
48 noonan syndrome with multiple lentigines 10.0 MYH7 MYH6 MYBPC3
49 long qt syndrome 2 10.0 MYH7 MYH6 MYBPC3
50 sphingolipidosis 10.0 TFEB PRKAG2 LAMP2 LAMP1 BECN1

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 elevated serum creatine kinase 31 HP:0003236
12 emg: myopathic abnormalities 31 HP:0003458
13 arrhythmia 31 HP:0011675
14 pes cavus 31 HP:0001761
15 proximal muscle weakness 31 HP:0003701
16 hypokinesia 31 HP:0002375
17 generalized amyotrophy 31 HP:0003700
18 wolff-parkinson-white syndrome 31 HP:0001716
19 exercise intolerance 31 HP:0003546
20 myocardial fibrosis 31 HP:0001685
21 exercise-induced muscle cramps 31 HP:0003710
22 myocardial necrosis 31 HP:0001700

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Cardiovascular Heart:
cardiomegaly
hypertrophic cardiomyopathy
dilated cardiomyopathy
hypokinesia
wolff-parkinson-white syndrome
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 (Updated 05-Mar-2021)

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased cilium length after serum starvation GR00149-A-1 9.43 CSRP3 PIK3C3 PRKAG2
2 Increased cilium length after serum starvation GR00149-A-2 9.43 CSRP3 PIK3C3 PRKAG2
3 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.23 BECN1 CUL4B PIK3C3
4 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.23 ATG5 ATG7 CUL4B LAMP2 PIK3C3
5 Decreased cilium length after serum starvation GR00149-A-1 9.16 PIK3R4
6 Decreased cilium length after serum starvation GR00149-A-2 9.16 PIK3R4

MGI Mouse Phenotypes related to Danon Disease:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.3 ATG5 ATG7 BECN1 CUL4B EPG5 GAA
2 cardiovascular system MP:0005385 10.25 ATG5 ATG7 BECN1 CSRP3 CUL4B GAA
3 growth/size/body region MP:0005378 10.24 ATG5 ATG7 BECN1 CSRP3 CUL4B EPG5
4 cellular MP:0005384 10.22 ATG5 ATG7 BECN1 CSRP3 CUL4B EPG5
5 homeostasis/metabolism MP:0005376 10.2 ATG5 ATG7 BECN1 CSRP3 EPG5 GAA
6 mortality/aging MP:0010768 10 ATG5 ATG7 BECN1 CSRP3 CUL4B EPG5
7 liver/biliary system MP:0005370 9.91 ATG5 ATG7 BECN1 EPG5 LAMP2 MYH6
8 muscle MP:0005369 9.73 ATG5 ATG7 CSRP3 EPG5 GAA LAMP2
9 normal MP:0002873 9.23 ATG5 BECN1 CUL4B LAMP1 MYH7 PIK3C3

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

Publications for Danon Disease

Articles related to Danon Disease:

(show top 50) (show all 236)
# Title Authors PMID Year
1
Danon disease presenting with dilated cardiomyopathy and a complex phenotype. 61 54 57 6 25
17899313 2007
2
Asymptomatic hyperCKemia in a case of Danon disease due to a missense mutation in Lamp-2 gene. 25 57 6 54 61
15907287 2005
3
Danon's disease as a cause of hypertrophic cardiomyopathy: a systematic survey. 6 57 25 54
15253947 2004
4
Retinopathy in Danon disease. 57 61 54 25
17296900 2007
5
Glycogen storage diseases presenting as hypertrophic cardiomyopathy. 57 6 54
15673802 2005
6
Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease). 6 61 57
10972294 2000
7
Natural history of Danon disease. 61 25 57
21415759 2011
8
Ophthalmic manifestations of Danon disease. 61 57 25
16751040 2006
9
Germline mosaicism of a novel mutation in lysosome-associated membrane protein-2 deficiency (Danon disease). 61 25 6
12112061 2002
10
Lysosomal glycogen storage with normal acid maltase: a familial study with successful heart transplant. 57 6
7919972 1994
11
X-linked dilated cardiomyopathy. Molecular genetic evidence of linkage to the Duchenne muscular dystrophy (dystrophin) gene at the Xp21 locus. 57 6
8504498 1993
12
Dominantly inherited cardioskeletal myopathy with lysosomal glycogen storage and normal acid maltase levels. 6 57
3087571 1986
13
Lysosomal glycogen storage disease without acid maltase deficiency. 57 6
6408499 1983
14
Lysosomal glycogen storage disease with normal acid maltase. 57 6
6450334 1981
15
Clinical outcome and phenotypic expression in LAMP2 cardiomyopathy. 61 57 54
19318653 2009
16
Familial X-linked cardiomyopathy (Danon disease): diagnostic confirmation by mutation analysis of the LAMP2gene. 54 61 57
15889279 2005
17
Novel LAMP-2 mutation in a family with Danon disease presenting with hypertrophic cardiomyopathy. 61 54 25
19057086 2009
18
Danon disease as an underrecognized cause of hypertrophic cardiomyopathy in children. 25 61 54
16144992 2005
19
Autophagic vacuoles with sarcolemmal features delineate Danon disease and related myopathies. 57 61
15977643 2005
20
Morphological, clinical and genetic aspects in a family with a novel LAMP-2 gene mutation (Danon disease). 61 57
15792868 2005
21
Charcot-Marie-Tooth features and maculopathy in a patient with Danon disease. 61 57
15505188 2004
22
Clinicopathological features of genetically confirmed Danon disease. 61 57
12084876 2002
23
Danon disease: Gender differences in presentation and outcomes. 25 61
30857840 2019
24
Clinical Findings and Prognosis of Danon Disease. An Analysis of the Spanish Multicenter Danon Registry. 61 25
30108015 2019
25
LAMP-2B regulates human cardiomyocyte function by mediating autophagosome-lysosome fusion. 61 25
30584088 2019
26
A Nationwide Survey on Danon Disease in Japan. 61 25
30413001 2018
27
Impaired mitophagy facilitates mitochondrial damage in Danon disease. 61 25
28526246 2017
28
Early diagnosis of Danon disease: Flow cytometric detection of lysosome-associated membrane protein-2-negative leukocytes. 25 61
25458169 2015
29
Brief Report: Oxidative Stress Mediates Cardiomyocyte Apoptosis in a Human Model of Danon Disease and Heart Failure. 25 61
25826782 2015
30
Danon disease: clinical features, evaluation, and management. 25 61
25228319 2014
31
Danon disease caused by two novel mutations of the LAMP2 gene: implications for two ends of the clinical spectrum. 61 25
22541782 2012
32
Cone-rod dystrophy can be a manifestation of Danon disease. 25 61
22290069 2012
33
Cone-rod dystrophy in Danon disease. 25 61
22407291 2012
34
Functional performance and muscle strength phenotypes in men and women with Danon disease. 25 61
21104865 2010
35
Extension of the clinical spectrum of Danon disease. 61 25
18413590 2008
36
Sarcolemmal indentation in cardiomyopathy with mental retardation and vacuolar myopathy. 57
7539316 1995
37
Complete heart block with myocardial membrane-bound glycogen and normal peripheral alpha-glucosidase activity. 57
3057987 1988
38
Familial lethal cardiomyopathy with mental retardation and scapuloperoneal muscular dystrophy. 57
3806120 1986
39
Current Diagnostic and Treatment Strategies for Specific Dilated Cardiomyopathies: A Scientific Statement From the American Heart Association. 25
27832612 2016
40
2011 ACCF/AHA guideline for the diagnosis and treatment of hypertrophic cardiomyopathy: a report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines. 25
22093723 2011
41
A 13-year-old girl with proximal weakness and hypertrophic cardiomyopathy with Danon disease. 54 61
20513107 2010
42
Psychosis in a patient with Danon cardiomyopathy. 25
20430238 2010
43
LAMP2 microdeletions in patients with Danon disease. 54 61
20173215 2010
44
[Eludication of pathomechanism of and development of therapy for autophagic vacuolar myopathies]. 54 61
20120346 2010
45
Danon disease: a novel LAMP2 mutation affecting the pre-mRNA splicing and causing aberrant transcripts and partial protein expression. 54 61
18990578 2008
46
Danon disease: an unusual presentation of autism. 61 54
18555174 2008
47
LAMP-2: a control step for phagosome and autophagosome maturation. 54 61
18376150 2008
48
[Morphological and clinical aspects of Danon disease]. 54 61
18393115 2008
49
Danon disease due to a novel splice mutation in the LAMP2 gene. 54 61
18004770 2008
50
Danon disease with typical early-onset cardiomyopathy in a male: focus on a novel LAMP-2 mutation. 61 54
18282207 2008

Variations for Danon Disease

ClinVar genetic disease variations for Danon Disease:

6 (show top 50) (show all 243)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 LAMP2 LAMP2, 2-BP DEL, 1097AA Deletion Pathogenic 9973
2 LAMP2 NM_013995.2(LAMP2):c.440T>A (p.Leu147Ter) SNV Pathogenic 9974 rs137852527 X:119582941-119582941 X:120449086-120449086
3 LAMP2 NM_013995.2(LAMP2):c.864+5G>C SNV Pathogenic 9975 rs1352584474 X:119580155-119580155 X:120446300-120446300
4 LAMP2 LAMP2, 1-BP INS, 974A Insertion Pathogenic 9976
5 LAMP2 NM_013995.2(LAMP2):c.741+1G>A SNV Pathogenic 9977 rs1251075016 X:119581695-119581695 X:120447840-120447840
6 LAMP2 NM_013995.2(LAMP2):c.14del (p.Arg5fs) Deletion Pathogenic 9978 rs1183994410 X:119603011-119603011 X:120469156-120469156
7 LAMP2 NM_013995.2(LAMP2):c.883dup (p.Tyr295fs) Duplication Pathogenic 9979 rs1327363415 X:119576498-119576499 X:120442643-120442644
8 LAMP2 NM_013995.2(LAMP2):c.36_42del (p.Gly13fs) Deletion Pathogenic 9980 rs1436181133 X:119602983-119602989 X:120469128-120469134
9 LAMP2 NM_013995.2(LAMP2):c.520C>T (p.Gln174Ter) SNV Pathogenic 9981 rs104894857 X:119582861-119582861 X:120449006-120449006
10 LAMP2 NM_002294.3(LAMP2):c.928G>A (p.Val310Ile) SNV Pathogenic 9982 rs104894858 X:119576454-119576454 X:120442599-120442599
11 LAMP2 NM_013995.2(LAMP2):c.961T>C (p.Trp321Arg) SNV Pathogenic 9983 rs104894859 X:119575717-119575717 X:120441862-120441862
12 LAMP2 LAMP2, 1-BP DEL, 1219A Deletion Pathogenic 9984
13 LAMP2 NM_002294.3(LAMP2):c.293G>A (p.Trp98Ter) SNV Pathogenic 44423 rs397516740 X:119589316-119589316 X:120455461-120455461
14 LAMP2 NM_002294.3(LAMP2):c.65-2A>G SNV Pathogenic 44427 rs397516743 X:119590626-119590626 X:120456771-120456771
15 LAMP2 NM_013995.2(LAMP2):c.864+3_864+6del Deletion Pathogenic 44442 rs397516751 X:119580154-119580157 X:120446299-120446302
16 LAMP2 NM_002294.3(LAMP2):c.877C>T (p.Arg293Ter) SNV Pathogenic 163812 rs727503118 X:119576505-119576505 X:120442650-120442650
17 LAMP2 NM_002294.3(LAMP2):c.864+1G>T SNV Pathogenic 163813 rs727503119 X:119580159-119580159 X:120446304-120446304
18 LAMP2 NM_002294.3(LAMP2):c.183+1G>A SNV Pathogenic 163816 rs727503120 X:119590505-119590505 X:120456650-120456650
19 LAMP2 NM_013995.2(LAMP2):c.1020del (p.Gly341fs) Deletion Pathogenic 178999 rs727504597 X:119575658-119575658 X:120441803-120441803
20 LAMP2 NM_013995.2(LAMP2):c.121del (p.Cys41fs) Deletion Pathogenic 179062 rs727504600 X:119590568-119590568 X:120456713-120456713
21 LAMP2 NM_013995.2(LAMP2):c.851_852del (p.Phe284fs) Deletion Pathogenic 179126 rs727504648 X:119580172-119580173 X:120446317-120446318
22 LAMP2 NM_002294.3(LAMP2):c.1093+1G>A SNV Pathogenic 179254 rs727504742 X:119575584-119575584 X:120441729-120441729
23 LAMP2 NM_013995.2(LAMP2):c.584_588dup (p.Val197fs) Duplication Pathogenic 180887 rs730880492 X:119581848-119581849 X:120447993-120447994
24 LAMP2 NM_002294.3(LAMP2):c.294G>A (p.Trp98Ter) SNV Pathogenic 228356 rs876657696 X:119589315-119589315 X:120455460-120455460
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.962G>A (p.Trp321Ter) SNV Pathogenic 409227 rs1060502306 X:119575716-119575716 X:120441861-120441861
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.788del (p.Gly263fs) Deletion Pathogenic 409222 rs1060502303 X:119580236-119580236 X:120446381-120446381
30 LAMP2 NM_013995.2(LAMP2):c.696T>A (p.Cys232Ter) SNV Pathogenic 463159 rs1556101523 X:119581741-119581741 X:120447886-120447886
31 LAMP2 NC_000023.11:g.(?_120428464)_(120469189_?)del Deletion Pathogenic 532015 X:119562319-119603044 X:120428464-120469189
32 LAMP2 NM_013995.2(LAMP2):c.415_469dup (p.Ser157Ter) Duplication Pathogenic 566028 rs1569369940 X:119582911-119582912 X:120449056-120449057
33 LAMP2 NM_013995.2(LAMP2):c.138G>A (p.Trp46Ter) SNV Pathogenic 560927 rs1271031981 X:119590551-119590551 X:120456696-120456696
34 LAMP2 NM_013995.2(LAMP2):c.843T>G (p.Tyr281Ter) SNV Pathogenic 575405 rs1569369194 X:119580181-119580181 X:120446326-120446326
35 LAMP2 NM_013995.2(LAMP2):c.137G>A (p.Trp46Ter) SNV Pathogenic 577660 rs1569371591 X:119590552-119590552 X:120456697-120456697
36 LAMP2 NM_013995.2(LAMP2):c.205_218del (p.His69fs) Deletion Pathogenic 659852 rs1602540152 X:119589391-119589404 X:120455536-120455549
37 LAMP2 NM_002294.3(LAMP2):c.928G>A (p.Val310Ile) SNV Pathogenic 9982 rs104894858 X:119576454-119576454 X:120442599-120442599
38 LAMP2 NM_002294.3(LAMP2):c.877C>T (p.Arg293Ter) SNV Pathogenic 163812 rs727503118 X:119576505-119576505 X:120442650-120442650
39 LAMP2 NC_000023.11:g.(?_120431313)_(120470223_?)del Deletion Pathogenic 832269 X:119565168-119604078
40 LAMP2 NM_002294.3(LAMP2):c.64+1G>C SNV Pathogenic 845902 X:119602960-119602960 X:120469105-120469105
41 LAMP2 NM_002294.3(LAMP2):c.1037del (p.Asn346fs) Deletion Pathogenic 849608 X:119575641-119575641 X:120441786-120441786
42 LAMP2 NM_002294.3(LAMP2):c.34dup (p.Ser12fs) Duplication Pathogenic 953179 X:119602990-119602991 X:120469135-120469136
43 LAMP2 NM_002294.3(LAMP2):c.235_243delinsGTGG (p.Cys79fs) Indel Pathogenic 965577 X:119589366-119589374 X:120455511-120455519
44 LAMP2 NM_002294.3(LAMP2):c.763_768delinsTGAAGT (p.Asn255_Pro256delinsTer) Indel Pathogenic 970819 X:119580256-119580261 X:120446401-120446406
45 LAMP2 NM_013995.2(LAMP2):c.65-1G>C SNV Likely pathogenic 180891 rs730880496 X:119590625-119590625 X:120456770-120456770
46 LAMP2 NM_013995.2(LAMP2):c.190_191del (p.Val64fs) Deletion Likely pathogenic 635277 rs1569371330 X:119589418-119589419 X:120455563-120455564
47 LAMP2 NM_002294.2(LAMP2):c.(?_398)-60_(741_?)+68del Deletion Likely pathogenic 228268 X:119581628-119583043 X:120447773-120449188
48 LAMP2 NM_013995.2(LAMP2):c.795C>A (p.Cys265Ter) SNV Likely pathogenic 180874 rs730880483 X:119580229-119580229 X:120446374-120446374
49 LAMP2 NM_002294.3(LAMP2):c.912T>G (p.Tyr304Ter) SNV Likely pathogenic 228269 rs876657648 X:119576470-119576470 X:120442615-120442615
50 LAMP2 NM_002294.2(LAMP2):c.(?_929)_(1233_?)del Deletion Likely pathogenic 179651 X:119565178-119575749 X:120431323-120441894

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

GO Terms for Danon Disease

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

(show all 25)
# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.44 TFEB SQSTM1 PRKAG2 PIK3C3 MYH7 MYH6
2 cytosol GO:0005829 10.4 TFEB SQSTM1 PRKAG2 PIK3R4 PIK3C3 MYH6
3 cytoplasmic vesicle GO:0031410 10.08 VMA21 SQSTM1 PIK3R4 PIK3C3 LAMP2 LAMP1
4 endosome GO:0005768 10.03 SQSTM1 PIK3R4 PIK3C3 LAMP2 LAMP1 BECN1
5 lysosome GO:0005764 10 VMA21 TFEB SQSTM1 LAMP2 LAMP1 GAA
6 lysosomal membrane GO:0005765 9.91 TFEB LAMP2 LAMP1 GAA
7 late endosome GO:0005770 9.89 SQSTM1 PIK3R4 PIK3C3 LAMP2 LAMP1
8 phagocytic vesicle GO:0045335 9.83 PIK3C3 LAMP1 BECN1 ATG14
9 axoneme GO:0005930 9.83 PIK3R4 PIK3C3 ATG7 ATG5 ATG14
10 phagocytic vesicle membrane GO:0030670 9.81 PIK3R4 PIK3C3 LAMP2 ATG5
11 Z disc GO:0030018 9.8 MYH7 MYH6 CSRP3
12 ficolin-1-rich granule membrane GO:0101003 9.75 LAMP2 LAMP1 GAA
13 azurophil granule membrane GO:0035577 9.74 LAMP2 LAMP1 GAA
14 autophagosome membrane GO:0000421 9.72 LAMP2 LAMP1 ATG14
15 myosin filament GO:0032982 9.71 MYH7 MYH6 MYBPC3
16 phagophore assembly site GO:0000407 9.71 SQSTM1 PIK3C3 BECN1 ATG7
17 sarcomere GO:0030017 9.65 SQSTM1 MYH7 MYH6 MYBPC3 CSRP3
18 Mitochondria-associated ER Membrane GO:0044233 9.62 ATG5 ATG14
19 phagophore assembly site membrane GO:0034045 9.61 ATG5 ATG14
20 muscle myosin complex GO:0005859 9.6 MYH7 MYH6
21 phosphatidylinositol 3-kinase complex, class III, type II GO:0034272 9.54 PIK3R4 PIK3C3 BECN1
22 phosphatidylinositol 3-kinase complex, class III, type I GO:0034271 9.5 PIK3R4 PIK3C3 BECN1
23 autolysosome GO:0044754 9.46 SQSTM1 PIK3C3 LAMP2 LAMP1
24 autophagosome GO:0005776 9.43 SQSTM1 PIK3R4 PIK3C3 BECN1 ATG5 ATG14
25 phosphatidylinositol 3-kinase complex, class III GO:0035032 8.92 PIK3R4 PIK3C3 BECN1 ATG14

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

(show all 34)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of cell death GO:0060548 9.81 BECN1 ATG7 ATG5
2 positive regulation of autophagy GO:0010508 9.79 TFEB BECN1 ATG7
3 autophagosome assembly GO:0000045 9.77 PIK3C3 BECN1 ATG7 ATG5 ATG14
4 autophagy of mitochondrion GO:0000422 9.76 SQSTM1 BECN1 ATG7 ATG5
5 lysosome organization GO:0007040 9.75 TFEB GAA BECN1
6 regulation of cytokinesis GO:0032465 9.74 PIK3R4 PIK3C3 BECN1
7 muscle filament sliding GO:0030049 9.72 MYH7 MYH6 MYBPC3
8 cellular response to glucose starvation GO:0042149 9.72 PRKAG2 PIK3R4 PIK3C3 BECN1 ATG14
9 ventricular cardiac muscle tissue morphogenesis GO:0055010 9.71 MYH7 MYH6 MYBPC3
10 regulation of the force of heart contraction GO:0002026 9.71 MYH7 MYH6 GAA CSRP3
11 toll-like receptor 9 signaling pathway GO:0034162 9.7 PIK3R4 PIK3C3 EPG5
12 striated muscle contraction GO:0006941 9.69 MYH7 MYH6 GAA
13 cellular response to nitrogen starvation GO:0006995 9.67 BECN1 ATG7 ATG5
14 negative regulation of reactive oxygen species metabolic process GO:2000378 9.66 BECN1 ATG5
15 muscle cell cellular homeostasis GO:0046716 9.66 LAMP2 GAA
16 receptor catabolic process GO:0032801 9.65 PIK3R4 BECN1
17 cardiac muscle hypertrophy in response to stress GO:0014898 9.65 MYH7 MYH6
18 adult heart development GO:0007512 9.65 MYH7 MYH6
19 mitophagy GO:0000423 9.65 SQSTM1 BECN1 ATG14
20 cardiac muscle contraction GO:0060048 9.65 MYH7 MYH6 MYBPC3 GAA CSRP3
21 protein lipidation GO:0006497 9.64 PIK3C3 ATG7
22 regulation of protein complex stability GO:0061635 9.64 SQSTM1 ATG14
23 late endosome to vacuole transport GO:0045324 9.63 PIK3R4 BECN1
24 cellular response to starvation GO:0009267 9.63 TFEB PIK3C3 LAMP2 ATG7 ATG5 ATG14
25 regulation of ATPase activity GO:0043462 9.62 VMA21 MYH6
26 establishment of protein localization to organelle GO:0072594 9.62 LAMP2 LAMP1
27 chaperone-mediated autophagy GO:0061684 9.61 LAMP2 ATG7
28 response to mitochondrial depolarisation GO:0098780 9.61 SQSTM1 BECN1 ATG14
29 autophagy GO:0006914 9.61 TFEB SQSTM1 PIK3C3 LAMP2 EPG5 BECN1
30 aggrephagy GO:0035973 9.6 SQSTM1 ATG5
31 autophagy of host cells involved in interaction with symbiont GO:0075044 9.59 ATG7 ATG5
32 autophagy of peroxisome GO:0030242 9.58 PIK3R4 PIK3C3
33 C-terminal protein lipidation GO:0006501 9.56 ATG7 ATG5
34 macroautophagy GO:0016236 9.23 SQSTM1 PRKAG2 PIK3R4 PIK3C3 BECN1 ATG7

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.6 VMA21 TFEB SQSTM1 PRKAG2 PIK3R4 PIK3C3

Sources for Danon Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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