DAND
MCID: DNN001
MIFTS: 52

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 53 25 59 74 37 29 13 55 6 15 40
Glycogen Storage Disease Type Iib 25 44 72
Pseudoglycogenosis Ii 57 12 74
Antopol Disease 57 12 53
Vacuolar Cardiomyopathy and Myopathy X-Linked 53 74
Glycogen Storage Disease Type 2b 25 17
Glycogen Storage Disease Iib 57 74
Lysosomal Glycogen Storage Disease Without Acid Maltase Deficiency, Formerly 57
Lysosomal Glycogen Storage Disease with Normal Acid Maltase Activity 59
Lysosomal Glycogen Storage Disease Without Acid Maltase Deficiency 74
Lysosomal Glycogen Storage Disease with Normal Acid Maltase 25
Glycogen Storage Disease Due to Lamp-2 Deficiency 59
Vacuolar Cardiomyopathy and Myopathy, X-Linked 57
Glycogen Storage Disease Iib; Gsd2b, Formerly 57
Glycogen Storage Disease Limited to the Heart 53
X-Linked Vacuolar Cardiomyopathy and Myopathy 53
Glycogenosis Due to Lamp-2 Deficiency 59
Glycogen Storage Cardiomyopathy 53
Gsd Due to Lamp-2 Deficiency 59
Pseudoglycogenosis 2 53
Gsd Iib, Formerly 57
Gsd2b, Formerly 57
Gsd-Iib 74
Gsd2b 74
Dand 74

Characteristics:

Orphanet epidemiological data:

59
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
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:

32
danon disease:
Inheritance x-linked dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0050437
OMIM 57 300257
KEGG 37 H00150
MeSH 44 D052120
NCIt 50 C84735
ICD10 via Orphanet 34 E74.0
UMLS via Orphanet 73 C0878677
Orphanet 59 ORPHA34587
MedGen 42 C0878677
UMLS 72 C0878677

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 myopathy, x-linked, with excessive autophagy. An important gene associated with Danon Disease is LAMP2 (Lysosomal Associated Membrane Protein 2), and among its related pathways/superpathways are Lysosome and Apelin signaling pathway. 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 : 53 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)

KEGG : 37
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 : 74 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 : 75 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 68)
# Related Disease Score Top Affiliating Genes
1 wolff-parkinson-white syndrome 31.4 PRKAG2 LAMP2
2 myopathy, x-linked, with excessive autophagy 31.1 VMA21 LAMP2 GAA
3 atrial standstill 1 29.8 PRKAG2 LAMP2 GAA
4 glycogen storage disease 29.6 PRKAG2 LAMP2 GAA
5 fabry disease 29.2 PRKAG2 LAMP2
6 glycogen storage disease ii 28.9 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 10.5
11 dilated cardiomyopathy 10.5
12 lysosomal glycogen storage disease 10.4
13 muscular glycogenosis 10.3
14 cardiac conduction defect 10.2
15 cardiac arrest 10.2
16 pustulosis of palm and sole 10.2
17 rubella 10.2
18 psoriasis 10.2
19 deaf1-associated disorders 10.2
20 cone-rod dystrophy 2 10.1
21 myopia 10.1
22 lysosomal storage disease 10.1
23 muscular atrophy 10.1
24 fundus dystrophy 10.1
25 inherited retinal disorder 10.1
26 lysosomal disease 10.1
27 cardiomyopathy, familial hypertrophic, 6 10.0
28 sinoatrial node disease 10.0
29 sick sinus syndrome 10.0
30 fibrosis of extraocular muscles, congenital, 1 10.0
31 hypercholesterolemia, familial, 1 10.0
32 migraine with or without aura 1 10.0
33 autism 10.0
34 graves disease 1 10.0
35 cardiomyopathy, dilated, 3b 10.0
36 stroke, ischemic 10.0
37 yemenite deaf-blind hypopigmentation syndrome 10.0
38 ventricular fibrillation, paroxysmal familial, 1 10.0
39 anxiety 10.0
40 muscle hypertrophy 10.0
41 hydrops, lactic acidosis, and sideroblastic anemia 10.0
42 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis 10.0
43 cone dystrophy 10.0
44 atrioventricular block 10.0
45 aphasia 10.0
46 atrial fibrillation 10.0
47 left ventricular noncompaction 10.0
48 lymphoproliferative syndrome 10.0
49 respiratory failure 10.0
50 heart disease 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:

59 32 (show all 22)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 59 32 very rare (1%) Very frequent (99-80%) HP:0001249
2 gait disturbance 59 32 hallmark (90%) Very frequent (99-80%) HP:0001288
3 hypertrophic cardiomyopathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0001639
4 dilated cardiomyopathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0001644
5 muscle flaccidity 59 32 hallmark (90%) Very frequent (99-80%) HP:0010547
6 cardiorespiratory arrest 59 32 hallmark (90%) Very frequent (99-80%) HP:0006543
7 global developmental delay 32 HP:0001263
8 visual impairment 32 HP:0000505
9 cognitive impairment 32 HP:0100543
10 cardiomegaly 32 HP:0001640
11 arrhythmia 32 HP:0011675
12 pes cavus 32 HP:0001761
13 emg: myopathic abnormalities 32 HP:0003458
14 wolff-parkinson-white syndrome 32 HP:0001716
15 proximal muscle weakness 32 HP:0003701
16 hypokinesia 32 HP:0002375
17 exercise intolerance 32 HP:0003546
18 generalized amyotrophy 32 HP:0003700
19 myocardial fibrosis 32 HP:0001685
20 exercise-induced muscle cramps 32 HP:0003710
21 elevated serum creatine kinase 32 HP:0003236
22 myocardial necrosis 32 HP:0001700

Symptoms via clinical synopsis from OMIM:

57
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:
moderate central loss of visual acuity 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
emg shows myopathic changes
severely decreased or absent lamp2 protein
proximal muscle weakness (85% of patients)
diffuse muscle atrophy
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 Decreased viability GR00221-A-1 9.7 MPP2 PIK3R4 PRKAG2
2 Decreased viability GR00221-A-2 9.7 MPP2 PIK3R4 PRKAG2
3 Decreased viability GR00221-A-3 9.7 MPP2 PIK3R4
4 Decreased viability GR00221-A-4 9.7 PIK3R4
5 Decreased viability GR00402-S-2 9.7 MPP2 PIK3R4 PRKAG2

MGI Mouse Phenotypes related to Danon Disease:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 8.92 GAA LAMP2 PIK3R4 PRKAG2

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:

41
Heart, Skeletal Muscle, Brain, Liver, Skin

Publications for Danon Disease

Articles related to Danon Disease:

(show top 50) (show all 201)
# Title Authors PMID Year
1
Danon disease presenting with dilated cardiomyopathy and a complex phenotype. 9 38 8 71
17899313 2007
2
Asymptomatic hyperCKemia in a case of Danon disease due to a missense mutation in Lamp-2 gene. 9 38 8 71
15907287 2005
3
Glycogen storage diseases presenting as hypertrophic cardiomyopathy. 9 8 71
15673802 2005
4
Danon's disease as a cause of hypertrophic cardiomyopathy: a systematic survey. 9 8 71
15253947 2004
5
Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease). 38 8 71
10972294 2000
6
Lysosomal glycogen storage with normal acid maltase: a familial study with successful heart transplant. 8 71
7919972 1994
7
X-linked dilated cardiomyopathy. Molecular genetic evidence of linkage to the Duchenne muscular dystrophy (dystrophin) gene at the Xp21 locus. 8 71
8504498 1993
8
Dominantly inherited cardioskeletal myopathy with lysosomal glycogen storage and normal acid maltase levels. 8 71
3087571 1986
9
Lysosomal glycogen storage disease without acid maltase deficiency. 8 71
6408499 1983
10
Lysosomal glycogen storage disease with normal acid maltase. 8 71
6450334 1981
11
Clinical outcome and phenotypic expression in LAMP2 cardiomyopathy. 9 38 8
19318653 2009
12
Retinopathy in Danon disease. 9 38 8
17296900 2007
13
Familial X-linked cardiomyopathy (Danon disease): diagnostic confirmation by mutation analysis of the LAMP2gene. 9 38 8
15889279 2005
14
Natural history of Danon disease. 38 8
21415759 2011
15
Ophthalmic manifestations of Danon disease. 38 8
16751040 2006
16
Autophagic vacuoles with sarcolemmal features delineate Danon disease and related myopathies. 38 8
15977643 2005
17
Morphological, clinical and genetic aspects in a family with a novel LAMP-2 gene mutation (Danon disease). 38 8
15792868 2005
18
Charcot-Marie-Tooth features and maculopathy in a patient with Danon disease. 38 8
15505188 2004
19
Germline mosaicism of a novel mutation in lysosome-associated membrane protein-2 deficiency (Danon disease). 38 71
12112061 2002
20
Clinicopathological features of genetically confirmed Danon disease. 38 8
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). 71
25173338 2014
22
Sarcolemmal indentation in cardiomyopathy with mental retardation and vacuolar myopathy. 8
7539316 1995
23
Complete heart block with myocardial membrane-bound glycogen and normal peripheral alpha-glucosidase activity. 8
3057987 1988
24
Familial lethal cardiomyopathy with mental retardation and scapuloperoneal muscular dystrophy. 8
3806120 1986
25
A 13-year-old girl with proximal weakness and hypertrophic cardiomyopathy with Danon disease. 9 38
20513107 2010
26
LAMP2 microdeletions in patients with Danon disease. 9 38
20173215 2010
27
[Eludication of pathomechanism of and development of therapy for autophagic vacuolar myopathies]. 9 38
20120346 2010
28
Novel LAMP-2 mutation in a family with Danon disease presenting with hypertrophic cardiomyopathy. 9 38
19057086 2009
29
Danon disease: a novel LAMP2 mutation affecting the pre-mRNA splicing and causing aberrant transcripts and partial protein expression. 9 38
18990578 2008
30
Danon disease: an unusual presentation of autism. 9 38
18555174 2008
31
LAMP-2: a control step for phagosome and autophagosome maturation. 9 38
18376150 2008
32
Danon disease due to a novel splice mutation in the LAMP2 gene. 9 38
18004770 2008
33
[Morphological and clinical aspects of Danon disease]. 9 38
18393115 2008
34
Danon disease with typical early-onset cardiomyopathy in a male: focus on a novel LAMP-2 mutation. 9 38
18282207 2008
35
A novel vacuolar myopathy with dilated cardiomyopathy. 9 38
17873513 2007
36
Danon disease as a cause of autophagic vacuolar myopathy. 9 38
18377432 2007
37
A case of excessive autophagocytosis with multiorgan involvement and low clinical penetrance. 9 38
17821837 2007
38
[Inherited metabolic cardiomyopathies]. 9 38
17546768 2007
39
LAMP-2 positive vacuolar myopathy with dilated cardiomyopathy. 9 38
17541230 2007
40
Roles of LAMP-1 and LAMP-2 in lysosome biogenesis and autophagy. 9 38
16973206 2006
41
Autophagic vacuolar myopathy in twin girls. 9 38
16640643 2006
42
Case of X-linked myopathy with excessive autophagy. 9 38
16901453 2006
43
Generalized lysosome-associated membrane protein-2 defect explains multisystem clinical involvement and allows leukocyte diagnostic screening in Danon disease. 9 38
16565504 2006
44
Novel Lamp-2 gene mutation and successful treatment with heart transplantation in a large family with Danon disease. 9 38
16372318 2006
45
Phenotypic heterogeneity in two unrelated Danon patients associated with the same LAMP-2 gene mutation. 9 38
16217705 2005
46
Danon disease as an underrecognized cause of hypertrophic cardiomyopathy in children. 9 38
16144992 2005
47
Characterization of Danon disease in a male patient and his affected mother. 9 38
14561493 2003
48
A novel form of autophagic vacuolar myopathy with late-onset and multiorgan involvement. 9 38
12847175 2003
49
Identification of a novel LAMP2 mutation responsible for X-chromosomal dominant Danon disease. 9 38
14598234 2003
50
Autophagic vacuolar myopathies. 9 38
12507414 2003

Variations for Danon Disease

ClinVar genetic disease variations for Danon Disease:

6 (show top 50) (show all 172)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 LAMP2 NM_002294.2(LAMP2): c.962G> A (p.Trp321Ter) single nucleotide variant Pathogenic rs1060502306 X:119575716-119575716 X:120441861-120441861
2 LAMP2 NM_002294.2(LAMP2): c.1013C> G (p.Ser338Ter) single nucleotide variant Pathogenic rs1060502305 X:119575665-119575665 X:120441810-120441810
3 LAMP2 NM_002294.2(LAMP2): c.788del (p.Gly263fs) deletion Pathogenic rs1060502303 X:119580236-119580236 X:120446381-120446381
4 LAMP2 NM_002294.2(LAMP2): c.546_548delinsTA (p.Ser183fs) indel Pathogenic rs1060502302 X:119582833-119582835 X:120448978-120448980
5 LAMP2 NM_002294.2(LAMP2): c.973dup (p.Leu325fs) duplication Pathogenic rs1556092459 X:119575705-119575705 X:120441850-120441850
6 LAMP2 NM_002294.2(LAMP2): c.696T> A (p.Cys232Ter) single nucleotide variant Pathogenic rs1556101523 X:119581741-119581741 X:120447886-120447886
7 LAMP2 NC_000023.10: g.(?_119562319)_(119603044_?)del deletion Pathogenic X:119562319-119603044 X:120428464-120469189
8 LAMP2 NM_002294.2(LAMP2): c.138G> A (p.Trp46Ter) single nucleotide variant Pathogenic X:119590551-119590551 X:120456696-120456696
9 LAMP2 LAMP2, 2-BP DEL, 1097AA deletion Pathogenic
10 LAMP2 NM_002294.2(LAMP2): c.440T> A (p.Leu147Ter) single nucleotide variant Pathogenic rs137852527 X:119582941-119582941 X:120449086-120449086
11 LAMP2 NM_002294.2(LAMP2): c.864+5G> C single nucleotide variant Pathogenic X:119580155-119580155 X:120446300-120446300
12 LAMP2 LAMP2, 1-BP INS, 974A insertion Pathogenic
13 LAMP2 NM_002294.2(LAMP2): c.741+1G> A single nucleotide variant Pathogenic X:119581695-119581695 X:120447840-120447840
14 LAMP2 NM_002294.2(LAMP2): c.14del (p.Arg5fs) deletion Pathogenic X:119603011-119603011 X:120469156-120469156
15 LAMP2 NM_002294.2(LAMP2): c.883dup (p.Tyr295fs) duplication Pathogenic X:119576499-119576499 X:120442644-120442644
16 LAMP2 NM_002294.2(LAMP2): c.36_42del (p.Gly13fs) deletion Pathogenic X:119602983-119602989 X:120469128-120469134
17 LAMP2 NM_002294.2(LAMP2): c.520C> T (p.Gln174Ter) single nucleotide variant Pathogenic rs104894857 X:119582861-119582861 X:120449006-120449006
18 LAMP2 NM_002294.2(LAMP2): c.928G> A (p.Val310Ile) single nucleotide variant Pathogenic rs104894858 X:119576454-119576454 X:120442599-120442599
19 LAMP2 NM_002294.2(LAMP2): c.961T> C (p.Trp321Arg) single nucleotide variant Pathogenic rs104894859 X:119575717-119575717 X:120441862-120441862
20 LAMP2 LAMP2, 1-BP DEL, 1219A deletion Pathogenic
21 LAMP2 NM_002294.2(LAMP2): c.293G> A (p.Trp98Ter) single nucleotide variant Pathogenic rs397516740 X:119589316-119589316 X:120455461-120455461
22 LAMP2 NM_002294.2(LAMP2): c.65-2A> G single nucleotide variant Pathogenic rs397516743 X:119590626-119590626 X:120456771-120456771
23 LAMP2 NM_002294.2(LAMP2): c.864+3_864+6del deletion Pathogenic rs397516751 X:119580154-119580157 X:120446299-120446302
24 LAMP2 NM_002294.2(LAMP2): c.877C> T (p.Arg293Ter) single nucleotide variant Pathogenic rs727503118 X:119576505-119576505 X:120442650-120442650
25 LAMP2 NM_002294.2(LAMP2): c.851_852del (p.Phe284fs) deletion Pathogenic rs727504648 X:119580172-119580173 X:120446317-120446318
26 LAMP2 NM_002294.2(LAMP2): c.183+1G> A single nucleotide variant Pathogenic rs727503120 X:119590505-119590505 X:120456650-120456650
27 LAMP2 NM_002294.2(LAMP2): c.1093+1G> A single nucleotide variant Pathogenic rs727504742 X:119575584-119575584 X:120441729-120441729
28 LAMP2 NM_002294.2(LAMP2): c.864+1G> T single nucleotide variant Pathogenic rs727503119 X:119580159-119580159 X:120446304-120446304
29 LAMP2 NM_002294.2(LAMP2): c.121del (p.Cys41fs) deletion Pathogenic rs727504600 X:119590568-119590568 X:120456713-120456713
30 LAMP2 NM_002294.2(LAMP2): c.584_588dup (p.Val197fs) duplication Pathogenic rs730880492 X:119581848-119581849 X:120447993-120447994
31 LAMP2 NM_002294.2(LAMP2): c.294G> A (p.Trp98Ter) single nucleotide variant Pathogenic rs876657696 X:119589315-119589315 X:120455460-120455460
32 LAMP2 NM_002294.2(LAMP2): c.415_469dup (p.Ser157Ter) duplication Pathogenic X:119582912-119582966 X:120449057-120449111
33 LAMP2 NM_002294.2(LAMP2): c.137G> A (p.Trp46Ter) single nucleotide variant Pathogenic X:119590552-119590552 X:120456697-120456697
34 LAMP2 NM_002294.2(LAMP2): c.843T> G (p.Tyr281Ter) single nucleotide variant Pathogenic X:119580181-119580181 X:120446326-120446326
35 LAMP2 NM_002294.2(LAMP2): c.205_218del (p.His69fs) deletion Pathogenic X:119589391-119589404 X:120455539-120455552
36 LAMP2 NM_002294.2(LAMP2): c.1020del (p.Gly341fs) deletion Pathogenic rs727504597 X:119575658-119575658 X:120441803-120441803
37 LAMP2 NM_002294.2(LAMP2): c.795C> A (p.Cys265Ter) single nucleotide variant Pathogenic/Likely pathogenic rs730880483 X:119580229-119580229 X:120446374-120446374
38 LAMP2 NM_002294.2(LAMP2): c.929-1G> A single nucleotide variant Likely pathogenic rs727504262 X:119575750-119575750 X:120441895-120441895
39 LAMP2 NM_002294.2: c.(?_929)_(1233_?)del deletion Likely pathogenic X:119565178-119575749 X:120431323-120441894
40 LAMP2 NM_002294.2(LAMP2): c.128_129dup (p.Ala44fs) duplication Likely pathogenic rs730880344 X:119590560-119590561 X:120456705-120456706
41 LAMP2 NM_002294.2(LAMP2): c.(?_398)-60_(741_?)+68del deletion Likely pathogenic X:119581628-119583043 X:120447773-120449188
42 LAMP2 NM_002294.2(LAMP2): c.912T> G (p.Tyr304Ter) single nucleotide variant Likely pathogenic rs876657648 X:119576470-119576470 X:120442615-120442615
43 LAMP2 NM_002294.2(LAMP2): c.999del (p.Glu334fs) deletion Likely pathogenic rs727504557 X:119575679-119575679 X:120441824-120441824
44 LAMP2 NM_002294.2(LAMP2): c.865-1G> C single nucleotide variant Likely pathogenic rs397516752 X:119576518-119576518 X:120442663-120442663
45 LAMP2 NM_002294.2(LAMP2): c.463del (p.Ser155fs) deletion Likely pathogenic rs193922649 X:119582918-119582918 X:120449063-120449063
46 LAMP2 NM_002294.2(LAMP2): c.183T> A (p.Tyr61Ter) single nucleotide variant Likely pathogenic rs397516736 X:119590506-119590506 X:120456651-120456651
47 LAMP2 NM_002294.2(LAMP2): c.183T> G (p.Tyr61Ter) single nucleotide variant Likely pathogenic rs397516736 X:119590506-119590506 X:120456651-120456651
48 LAMP2 NM_002294.2(LAMP2): c.191del (p.Val64fs) deletion Likely pathogenic rs397516738 X:119589418-119589418 X:120455563-120455563
49 LAMP2 NM_002294.2(LAMP2): c.217dup (p.Thr73fs) duplication Likely pathogenic rs397516739 X:119589392-119589392 X:120455537-120455537
50 LAMP2 NM_002294.2(LAMP2): c.190_191del (p.Val64fs) deletion Likely pathogenic X:119589418-119589419 X:120455564-120455565

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

74
# 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:

37
# Name Kegg Source Accession
1 Lysosome hsa04142

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

# Super pathways Score Top Affiliating Genes
1 11.29 PRKAG2 PIK3R4
2 11.09 PIK3R4 LAMP2
3 10.71 LAMP2 GAA

GO Terms for Danon Disease

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

# Name GO ID Score Top Affiliating Genes
1 late endosome GO:0005770 9.37 PIK3R4 LAMP2
2 lysosomal lumen GO:0043202 9.32 LAMP2 GAA
3 phagocytic vesicle membrane GO:0030670 9.26 PIK3R4 LAMP2
4 ficolin-1-rich granule membrane GO:0101003 9.16 LAMP2 GAA
5 azurophil granule membrane GO:0035577 8.96 LAMP2 GAA
6 lysosome GO:0005764 8.8 VMA21 LAMP2 GAA

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

# Name GO ID Score Top Affiliating Genes
1 macroautophagy GO:0016236 9.16 PRKAG2 PIK3R4
2 glycogen metabolic process GO:0005977 8.96 PRKAG2 GAA
3 muscle cell cellular homeostasis GO:0046716 8.62 LAMP2 GAA

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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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