DAND
MCID: DNN001
MIFTS: 48

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 75 37 29 13 55 6 15
Glycogen Storage Disease Type Iib 25 44 73
Pseudoglycogenosis Ii 57 12 75
Antopol Disease 57 12 53
Vacuolar Cardiomyopathy and Myopathy X-Linked 53 75
Glycogen Storage Disease Iib 57 75
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 75
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 Disease Type 2b 25
Glycogen Storage Cardiomyopathy 53
Gsd Due to Lamp-2 Deficiency 59
Pseudoglycogenosis 2 53
Gsd Iib, Formerly 57
Danon Disease ) 40
Gsd2b, Formerly 57
Gsd-Iib 75
Gsd2b 75
Dand 75

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


Classifications:



Summaries for Danon Disease

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)

MalaCards based summary : Danon Disease, also known as glycogen storage disease type iib, is related to myopathy, x-linked, with excessive autophagy and 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 Autophagy - animal. Affiliated tissues include heart, skeletal muscle and skin, 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.

Genetics Home Reference : 25 Danon disease is a condition characterized by weakening of the heart muscle (cardiomyopathy); weakening of the muscles used for movement, called skeletal muscles, (myopathy); and intellectual disability. Males with Danon disease usually develop the condition earlier than females and are more severely affected. Signs and symptoms begin in childhood or adolescence in most affected males and in early adulthood in most affected females. Affected males, on average, live to age 19, while affected females live to an average age of 34.

NIH Rare Diseases : 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.  

UniProtKB/Swiss-Prot : 75 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 : 76 Danon disease (or glycogen storage disease Type IIb) is a metabolic disorder. Danon disease is an... more...

Related Diseases for Danon Disease

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



Diseases related to Danon Disease

Symptoms & Phenotypes for Danon Disease

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

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 elevated serum creatine phosphokinase 32 HP:0003236
12 arrhythmia 32 HP:0011675
13 pes cavus 32 HP:0001761
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 myocardial necrosis 32 HP:0001700
21 emg 32 HP:0003458
22 exercise-induced muscle cramps 32 HP:0003710

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 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, Skin, Brain, Liver

Publications for Danon Disease

Articles related to Danon Disease:

(show top 50) (show all 116)
# Title Authors Year
1
A new phenotype of severe dilated cardiomyopathy associated with a mutation in the LAMP2 gene previously known to cause hypertrophic cardiomyopathy in the context of Danon disease. ( 29753918 )
2018
2
Characterisation of Lamp2-deficient rats for potential new animal model of Danon disease. ( 29720683 )
2018
3
Characteristics of induced pluripotent stem cells from clinically divergent female monozygotic twins with Danon disease. ( 29175505 )
2018
4
A Mild Version of Danon Disease Caused by a Newly Recognized Mutation in the Lysosome-associated Membrane Protein-2 Gene. ( 29637036 )
2018
5
Clinical Findings and Prognosis of Danon Disease. An Analysis of the Spanish Multicenter Danon Registry. ( 30108015 )
2018
6
LAMP2 exon-copy number variations in Danon disease heterozygote female probands: Infrequent or underdetected? ( 30194816 )
2018
7
Fasciculoventricular Pathways Responsible for Ventricular Preexcitation in Patients With Danon Disease. ( 30354295 )
2018
8
A Nationwide Survey on Danon Disease in Japan. ( 30413001 )
2018
9
Cardiac Resynchronization Therapy-Pacemaker Implantation Guided by Three-Dimensional Electroanatomic Mapping for a Chinese Young Man with Danon Disease. ( 30425207 )
2018
10
Abundant electrical myotonia and left ventricular noncompaction: Unusual features of Danon disease due to a novel mutation in LAMP2 gene. ( 30527948 )
2018
11
Heart transplantation in two adolescents with Danon disease. ( 30536852 )
2018
12
Heart transplantation in Danon disease: A single family displaying diverse phenotypes. ( 29153639 )
2017
13
Neuropsychological functioning following cardiac transplant in Danon disease. ( 28594253 )
2017
14
Heterogeneity in a large pedigree with Danon disease: Implications for pathogenesis and management. ( 28822614 )
2017
15
Psychiatric and cognitive characteristics of individuals with Danon disease (LAMP2 gene mutation). ( 28627787 )
2017
16
A rare phenotype of heterozygous Danon disease mimicking apical hypertrophic cardiomyopathy. ( 29240871 )
2017
17
A Critical Evaluation of Liver Pathology in Humans with Danon Disease and Experimental Correlates in a Rat Model of LAMP-2 Deficiency. ( 28124283 )
2017
18
Impaired mitophagy facilitates mitochondrial damage in Danon disease. ( 28526246 )
2017
19
Cardiac Danon disease: Insights and challenges. ( 28874294 )
2017
20
Transient Ischemic Attack and Ischemic Stroke in Danon Disease with Formation of Left Ventricular Apical Thrombus despite Normal Systolic Function. ( 29085695 )
2017
21
Danon disease for the cardiologist: case report and review of the literature. ( 28638575 )
2017
22
Malignant cardiac phenotypic expression of Danon disease (LAMP2 cardiomyopathy). ( 28874292 )
2017
23
Autophagy dysregulation in Danon disease. ( 28102838 )
2017
24
Protein degradation in a LAMP-2-deficient B-lymphoblastoid cell line from a patient with Danon disease. ( 27130438 )
2016
25
Lymphoma in Danon disease with chronic rhabdomyolysis treated with EPOCH-R: A case report. ( 27442649 )
2016
26
Ischemic stroke due to hypoperfusion in a patient with a previously unrecognized Danon disease. ( 27816333 )
2016
27
Cardiac arrhythmias in patients with Danon disease. ( 27742774 )
2016
28
Amelioration of X-Linked Related Autophagy Failure in Danon Disease With DNA Methylation Inhibitor. ( 27678261 )
2016
29
Identification of LAMP2 Mutations in Early-Onset Danon Disease With Hypertrophic Cardiomyopathy by Targeted Next-Generation Sequencing. ( 27460667 )
2016
30
Danon disease - dysregulation of autophagy in a multisystem disorder with cardiomyopathy. ( 27165304 )
2016
31
A novel LAMP2 mutation associated with severe cardiac hypertrophy and microvascular remodeling in a female with Danon disease: a case report and literature review. ( 27497751 )
2016
32
The c.65-2A&amp;gt;G splice site mutation is associated with a mild phenotype in Danon disease due to the transcription of normal LAMP2 mRNA. ( 26748608 )
2016
33
Early onset of cardiomyopathy and intellectual disability in a girl with Danon disease associated with a de novo novel mutation of the LAMP2 gene. ( 27145725 )
2016
34
Severe left ventricular hypertrophy and marked cardiac fibrosis in Danon disease. ( 27395820 )
2016
35
Hypertrophic Cardiomyopathy with Unusual Extensive Scarring Pattern: Danon Disease. ( 28289499 )
2016
36
Identification of Two Novel LAMP2 Gene Mutations in Danon Disease. ( 27179547 )
2016
37
LAMP-2 deficiency leads to hippocampal dysfunction but normal clearance of neuronal substrates of chaperone-mediated autophagy in a mouse model for Danon disease. ( 25637286 )
2015
38
Danon disease: a phenotypic expression of LAMP-2 deficiency. ( 25589223 )
2015
39
Danon disease and a new mutation of the LAMP-2 gene in a Spanish family. ( 26385016 )
2015
40
Oxidative Stress Mediates Cardiomyocyte Apoptosis in a Human Model of Danon Disease and Heart Failure. ( 25826782 )
2015
41
Early onset cardiomyopathy in females with Danon disease. ( 25900304 )
2015
42
THE PHYSIOLOGY OF THE RETINAL PIGMENT EPITHELIUM IN DANON DISEASE. ( 26398689 )
2015
43
Danon disease: a rare cause of left ventricular hypertrophy with cardiac magnetic resonance follow-up. ( 26206213 )
2015
44
LAMP2 flow cytometry in peripheral white blood cells is an established method that facilitates identification of heterozygous Danon disease female patients and mosaic mutation carriers. ( 25636828 )
2015
45
Two Cases of Danon Disease - A 'Cousin' of Pompe Disease. ( 27858650 )
2015
46
Asymptomatic young man with Danon disease. ( 24955057 )
2014
47
Mosaic tissue distribution of the tandem duplication of LAMP2 exons 4 and 5 demonstrates the limits of Danon disease cellular and molecular diagnostics. ( 23716275 )
2014
48
Novel LAMP2 mutations in Chinese patients with Danon disease cause varying degrees of clinical severity. ( 24691104 )
2014
49
Early diagnosis of Danon disease: Flow cytometric detection of lysosome-associated membrane protein-2-negative leukocytes. ( 25458169 )
2014
50
Danon disease: clinical features, evaluation, and management. ( 25228319 )
2014

Variations for Danon Disease

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

75
# Symbol AA change Variation ID SNP ID
1 LAMP2 p.Trp321Arg VAR_026230 rs104894859

ClinVar genetic disease variations for Danon Disease:

6 (show top 50) (show all 307)
# Gene Variation Type Significance SNP ID Assembly Location
1 LAMP2 LAMP2, 2-BP DEL, 1097AA deletion Pathogenic
2 LAMP2 NM_001122606.1(LAMP2): c.440T> A (p.Leu147Ter) single nucleotide variant Pathogenic rs137852527 GRCh37 Chromosome X, 119582941: 119582941
3 LAMP2 NM_001122606.1(LAMP2): c.440T> A (p.Leu147Ter) single nucleotide variant Pathogenic rs137852527 GRCh38 Chromosome X, 120449086: 120449086
4 LAMP2 LAMP2, IVS6, G-C, +5 single nucleotide variant Pathogenic
5 LAMP2 LAMP2, 1-BP INS, 974A insertion Pathogenic
6 LAMP2 LAMP2, IVS5, G-A, +1 single nucleotide variant Pathogenic
7 LAMP2 LAMP2, 1-BP DEL, 14G deletion Pathogenic
8 LAMP2 LAMP2, 1-BP INS, 883T insertion Pathogenic
9 LAMP2 LAMP2, 7-BP DEL deletion Pathogenic
10 LAMP2 NM_002294.2(LAMP2): c.520C> T (p.Gln174Ter) single nucleotide variant Pathogenic rs104894857 GRCh37 Chromosome X, 119582861: 119582861
11 LAMP2 NM_002294.2(LAMP2): c.520C> T (p.Gln174Ter) single nucleotide variant Pathogenic rs104894857 GRCh38 Chromosome X, 120449006: 120449006
12 LAMP2 NM_002294.2(LAMP2): c.928G> A (p.Val310Ile) single nucleotide variant Pathogenic rs104894858 GRCh37 Chromosome X, 119576454: 119576454
13 LAMP2 NM_002294.2(LAMP2): c.928G> A (p.Val310Ile) single nucleotide variant Pathogenic rs104894858 GRCh38 Chromosome X, 120442599: 120442599
14 LAMP2 NM_001122606.1(LAMP2): c.961T> C (p.Trp321Arg) single nucleotide variant Pathogenic rs104894859 GRCh37 Chromosome X, 119575717: 119575717
15 LAMP2 NM_001122606.1(LAMP2): c.961T> C (p.Trp321Arg) single nucleotide variant Pathogenic rs104894859 GRCh38 Chromosome X, 120441862: 120441862
16 LAMP2 LAMP2, 1-BP DEL, 1219A deletion Pathogenic
17 LAMP2 NM_002294.2(LAMP2): c.-23_-15delGTCGCCGCC deletion Benign/Likely benign rs193922648 GRCh37 Chromosome X, 119603039: 119603047
18 LAMP2 NM_002294.2(LAMP2): c.-23_-15delGTCGCCGCC deletion Benign/Likely benign rs193922648 GRCh38 Chromosome X, 120469184: 120469192
19 LAMP2 NM_002294.2(LAMP2): c.463delA (p.Ser155Valfs) deletion Likely pathogenic rs193922649 GRCh37 Chromosome X, 119582918: 119582918
20 LAMP2 NM_002294.2(LAMP2): c.463delA (p.Ser155Valfs) deletion Likely pathogenic rs193922649 GRCh38 Chromosome X, 120449063: 120449063
21 LAMP2 NM_002294.2(LAMP2): c.*2746A> G single nucleotide variant Benign/Likely benign rs3827478 GRCh37 Chromosome X, 119562432: 119562432
22 LAMP2 NM_002294.2(LAMP2): c.*2746A> G single nucleotide variant Benign/Likely benign rs3827478 GRCh38 Chromosome X, 120428577: 120428577
23 LAMP2 NM_002294.2(LAMP2): c.-4G> C single nucleotide variant Conflicting interpretations of pathogenicity rs200297370 GRCh37 Chromosome X, 119603028: 119603028
24 LAMP2 NM_002294.2(LAMP2): c.-4G> C single nucleotide variant Conflicting interpretations of pathogenicity rs200297370 GRCh38 Chromosome X, 120469173: 120469173
25 LAMP2 NM_002294.2(LAMP2): c.156A> T (p.Val52=) single nucleotide variant Benign/Likely benign rs12097 GRCh37 Chromosome X, 119590533: 119590533
26 LAMP2 NM_002294.2(LAMP2): c.156A> T (p.Val52=) single nucleotide variant Benign/Likely benign rs12097 GRCh38 Chromosome X, 120456678: 120456678
27 LAMP2 NM_001122606.1(LAMP2): c.183T> A (p.Tyr61Ter) single nucleotide variant Likely pathogenic rs397516736 GRCh37 Chromosome X, 119590506: 119590506
28 LAMP2 NM_001122606.1(LAMP2): c.183T> A (p.Tyr61Ter) single nucleotide variant Likely pathogenic rs397516736 GRCh38 Chromosome X, 120456651: 120456651
29 LAMP2 NM_001122606.1(LAMP2): c.183T> G (p.Tyr61Ter) single nucleotide variant Likely pathogenic rs397516736 GRCh37 Chromosome X, 119590506: 119590506
30 LAMP2 NM_001122606.1(LAMP2): c.183T> G (p.Tyr61Ter) single nucleotide variant Likely pathogenic rs397516736 GRCh38 Chromosome X, 120456651: 120456651
31 LAMP2 NM_001122606.1(LAMP2): c.191delT (p.Val64Glufs) deletion Likely pathogenic rs397516738 GRCh37 Chromosome X, 119589418: 119589418
32 LAMP2 NM_001122606.1(LAMP2): c.191delT (p.Val64Glufs) deletion Likely pathogenic rs397516738 GRCh38 Chromosome X, 120455563: 120455563
33 LAMP2 NM_002294.2(LAMP2): c.217_218insA (p.Thr73Asnfs) insertion Likely pathogenic rs397516739 GRCh37 Chromosome X, 119589392: 119589392
34 LAMP2 NM_002294.2(LAMP2): c.217_218insA (p.Thr73Asnfs) insertion Likely pathogenic rs397516739 GRCh38 Chromosome X, 120455537: 120455537
35 LAMP2 NM_002294.2(LAMP2): c.293G> A (p.Trp98Ter) single nucleotide variant Pathogenic rs397516740 GRCh37 Chromosome X, 119589316: 119589316
36 LAMP2 NM_002294.2(LAMP2): c.293G> A (p.Trp98Ter) single nucleotide variant Pathogenic rs397516740 GRCh38 Chromosome X, 120455461: 120455461
37 LAMP2 NM_002294.2(LAMP2): c.339C> T (p.Ser113=) single nucleotide variant Conflicting interpretations of pathogenicity rs147369153 GRCh37 Chromosome X, 119589270: 119589270
38 LAMP2 NM_002294.2(LAMP2): c.339C> T (p.Ser113=) single nucleotide variant Conflicting interpretations of pathogenicity rs147369153 GRCh38 Chromosome X, 120455415: 120455415
39 LAMP2 NM_002294.2(LAMP2): c.65-2A> G single nucleotide variant Pathogenic rs397516743 GRCh37 Chromosome X, 119590626: 119590626
40 LAMP2 NM_002294.2(LAMP2): c.65-2A> G single nucleotide variant Pathogenic rs397516743 GRCh38 Chromosome X, 120456771: 120456771
41 LAMP2 NM_002294.2(LAMP2): c.472A> G (p.Thr158Ala) single nucleotide variant Uncertain significance rs138374063 GRCh37 Chromosome X, 119582909: 119582909
42 LAMP2 NM_002294.2(LAMP2): c.472A> G (p.Thr158Ala) single nucleotide variant Uncertain significance rs138374063 GRCh38 Chromosome X, 120449054: 120449054
43 LAMP2 NM_002294.2(LAMP2): c.517G> A (p.Val173Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs141574558 GRCh37 Chromosome X, 119582864: 119582864
44 LAMP2 NM_002294.2(LAMP2): c.517G> A (p.Val173Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs141574558 GRCh38 Chromosome X, 120449009: 120449009
45 LAMP2 NM_002294.2(LAMP2): c.586A> T (p.Thr196Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs138991195 GRCh37 Chromosome X, 119581851: 119581851
46 LAMP2 NM_002294.2(LAMP2): c.586A> T (p.Thr196Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs138991195 GRCh38 Chromosome X, 120447996: 120447996
47 LAMP2 NM_002294.2(LAMP2): c.591G> A (p.Val197=) single nucleotide variant Conflicting interpretations of pathogenicity rs201030806 GRCh37 Chromosome X, 119581846: 119581846
48 LAMP2 NM_002294.2(LAMP2): c.591G> A (p.Val197=) single nucleotide variant Conflicting interpretations of pathogenicity rs201030806 GRCh38 Chromosome X, 120447991: 120447991
49 LAMP2 NM_002294.2(LAMP2): c.661G> A (p.Gly221Arg) single nucleotide variant Benign/Likely benign rs145169006 GRCh37 Chromosome X, 119581776: 119581776
50 LAMP2 NM_002294.2(LAMP2): c.661G> A (p.Gly221Arg) single nucleotide variant Benign/Likely benign rs145169006 GRCh38 Chromosome X, 120447921: 120447921

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 11.06 LAMP2 PIK3R4
2 10.71 GAA LAMP2

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 endosome GO:0005768 9.61 LAMP2 PIK3R4 VPS4A
2 late endosome membrane GO:0031902 9.4 LAMP2 VPS4A
3 lysosomal lumen GO:0043202 9.37 GAA LAMP2
4 phagocytic vesicle membrane GO:0030670 9.32 LAMP2 PIK3R4
5 ficolin-1-rich granule membrane GO:0101003 9.26 GAA LAMP2
6 azurophil granule membrane GO:0035577 9.16 GAA LAMP2
7 late endosome GO:0005770 9.13 LAMP2 PIK3R4 VPS4A
8 lysosome GO:0005764 8.92 GAA LAMP2 VMA21 VPS4A

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

# Name GO ID Score Top Affiliating Genes
1 glycogen metabolic process GO:0005977 9.16 GAA PRKAG2
2 muscle cell cellular homeostasis GO:0046716 8.96 GAA LAMP2
3 macroautophagy GO:0016236 8.8 PIK3R4 PRKAG2 VPS4A

Sources for Danon Disease

3 CDC
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10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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30 HGMD
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32 HPO
33 ICD10
34 ICD10 via Orphanet
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
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74 UMLS via Orphanet
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