MCID: DNN001
MIFTS: 48

Danon Disease

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Metabolic diseases, Cardiovascular 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 skeletal muscle, heart and skin, and related phenotypes are intellectual disability and gait disturbance

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.

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.  

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.

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
wolff-parkinson-white syndrome
hypokinesia
dilated cardiomyopathy
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 cardiorespiratory arrest 59 32 hallmark (90%) Very frequent (99-80%) HP:0006543
6 muscle flaccidity 59 32 hallmark (90%) Very frequent (99-80%) HP:0010547
7 visual impairment 32 HP:0000505
8 global developmental delay 32 HP:0001263
9 cardiomegaly 32 HP:0001640
10 myocardial fibrosis 32 HP:0001685
11 myocardial necrosis 32 HP:0001700
12 wolff-parkinson-white syndrome 32 HP:0001716
13 pes cavus 32 HP:0001761
14 hypokinesia 32 HP:0002375
15 elevated serum creatine phosphokinase 32 HP:0003236
16 emg 32 HP:0003458
17 exercise intolerance 32 HP:0003546
18 generalized amyotrophy 32 HP:0003700
19 proximal muscle weakness 32 HP:0003701
20 exercise-induced muscle cramps 32 HP:0003710
21 arrhythmia 32 HP:0011675
22 cognitive impairment 32 HP:0100543

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 PRKAG2 MPP2 PIK3R4
2 Decreased viability GR00221-A-2 9.7 PRKAG2 MPP2 PIK3R4
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 PRKAG2 MPP2 PIK3R4

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

Search Clinical Trials , 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
Skeletal Muscle, Heart, Skin, Brain, Liver

Publications for Danon Disease

Articles related to Danon Disease:

(show top 50) (show all 107)
# 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
Heart transplantation in Danon disease: A single family displaying diverse phenotypes. ( 29153639 )
2017
6
Neuropsychological functioning following cardiac transplant in Danon disease. ( 28594253 )
2017
7
Heterogeneity in a large pedigree with Danon disease: Implications for pathogenesis and management. ( 28822614 )
2017
8
Psychiatric and cognitive characteristics of individuals with Danon disease (LAMP2 gene mutation). ( 28627787 )
2017
9
A rare phenotype of heterozygous Danon disease mimicking apical hypertrophic cardiomyopathy. ( 29240871 )
2017
10
A Critical Evaluation of Liver Pathology in Humans with Danon Disease and Experimental Correlates in a Rat Model of LAMP-2 Deficiency. ( 28124283 )
2017
11
Impaired mitophagy facilitates mitochondrial damage in Danon disease. ( 28526246 )
2017
12
Cardiac Danon disease: Insights and challenges. ( 28874294 )
2017
13
Transient Ischemic Attack and Ischemic Stroke in Danon Disease with Formation of Left Ventricular Apical Thrombus despite Normal Systolic Function. ( 29085695 )
2017
14
Danon disease for the cardiologist: case report and review of the literature. ( 28638575 )
2017
15
Malignant cardiac phenotypic expression of Danon disease (LAMP2 cardiomyopathy). ( 28874292 )
2017
16
Autophagy dysregulation in Danon disease. ( 28102838 )
2017
17
Protein degradation in a LAMP-2-deficient B-lymphoblastoid cell line from a patient with Danon disease. ( 27130438 )
2016
18
Lymphoma in Danon disease with chronic rhabdomyolysis treated with EPOCH-R: A case report. ( 27442649 )
2016
19
Ischemic stroke due to hypoperfusion in a patient with a previously unrecognized Danon disease. ( 27816333 )
2016
20
Cardiac arrhythmias in patients with Danon disease. ( 27742774 )
2016
21
Amelioration of X-Linked Related Autophagy Failure in Danon Disease With DNA Methylation Inhibitor. ( 27678261 )
2016
22
Identification of LAMP2 Mutations in Early-Onset Danon Disease With Hypertrophic Cardiomyopathy by Targeted Next-Generation Sequencing. ( 27460667 )
2016
23
Danon disease - dysregulation of autophagy in a multisystem disorder with cardiomyopathy. ( 27165304 )
2016
24
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
25
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
26
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
27
Severe left ventricular hypertrophy and marked cardiac fibrosis in Danon disease. ( 27395820 )
2016
28
Hypertrophic Cardiomyopathy with Unusual Extensive Scarring Pattern: Danon Disease. ( 28289499 )
2016
29
Identification of Two Novel LAMP2 Gene Mutations in Danon Disease. ( 27179547 )
2016
30
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
31
Danon disease: a phenotypic expression of LAMP-2 deficiency. ( 25589223 )
2015
32
Danon disease and a new mutation of the LAMP-2 gene in a Spanish family. ( 26385016 )
2015
33
Oxidative Stress Mediates Cardiomyocyte Apoptosis in a Human Model of Danon Disease and Heart Failure. ( 25826782 )
2015
34
Early onset cardiomyopathy in females with Danon disease. ( 25900304 )
2015
35
THE PHYSIOLOGY OF THE RETINAL PIGMENT EPITHELIUM IN DANON DISEASE. ( 26398689 )
2015
36
Danon disease: a rare cause of left ventricular hypertrophy with cardiac magnetic resonance follow-up. ( 26206213 )
2015
37
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
38
Asymptomatic young man with Danon disease. ( 24955057 )
2014
39
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
40
Novel LAMP2 mutations in Chinese patients with Danon disease cause varying degrees of clinical severity. ( 24691104 )
2014
41
Early diagnosis of Danon disease: Flow cytometric detection of lysosome-associated membrane protein-2-negative leukocytes. ( 25458169 )
2014
42
Danon disease: clinical features, evaluation, and management. ( 25228319 )
2014
43
Danon disease : A novel mutation in the LAMP-2 gene and ophthalmic abnormality. ( 23955649 )
2013
44
Consider Danon disease in dilated cardiomyopathy with noncompaction. ( 23653338 )
2013
45
Lysosomal storage and advanced senescence in the brain of LAMP-2-deficient Danon disease. ( 23262972 )
2013
46
Danon Disease Due to a Novel LAMP2 Microduplication. ( 24222494 )
2013
47
Morphologic and clinical aspects of Danon disease in a patient with a mutation c.137G &amp;gt; A in the LAMP-2 gene. ( 23504560 )
2013
48
Late profound muscle weakness following heart transplantation due to Danon disease. ( 23168931 )
2013
49
Cystoid macular edema in a patient with Danon disease. ( 23571262 )
2013
50
Danon disease: focusing on heart. ( 22695892 )
2012

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 253)
# 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.463delA (p.Ser155Valfs) deletion Likely pathogenic rs193922649 GRCh37 Chromosome X, 119582918: 119582918
18 LAMP2 NM_002294.2(LAMP2): c.463delA (p.Ser155Valfs) deletion Likely pathogenic rs193922649 GRCh38 Chromosome X, 120449063: 120449063
19 LAMP2 NM_002294.2(LAMP2): c.217_218insA (p.Thr73Asnfs) insertion Likely pathogenic rs397516739 GRCh38 Chromosome X, 120455537: 120455537
20 LAMP2 NM_002294.2(LAMP2): c.293G> A (p.Trp98Ter) single nucleotide variant Pathogenic rs397516740 GRCh37 Chromosome X, 119589316: 119589316
21 LAMP2 NM_002294.2(LAMP2): c.217_218insA (p.Thr73Asnfs) insertion Likely pathogenic rs397516739 GRCh37 Chromosome X, 119589392: 119589392
22 LAMP2 NM_001122606.1(LAMP2): c.183T> A (p.Tyr61Ter) single nucleotide variant Likely pathogenic rs397516736 GRCh37 Chromosome X, 119590506: 119590506
23 LAMP2 NM_001122606.1(LAMP2): c.183T> A (p.Tyr61Ter) single nucleotide variant Likely pathogenic rs397516736 GRCh38 Chromosome X, 120456651: 120456651
24 LAMP2 NM_001122606.1(LAMP2): c.183T> G (p.Tyr61Ter) single nucleotide variant Likely pathogenic rs397516736 GRCh37 Chromosome X, 119590506: 119590506
25 LAMP2 NM_001122606.1(LAMP2): c.183T> G (p.Tyr61Ter) single nucleotide variant Likely pathogenic rs397516736 GRCh38 Chromosome X, 120456651: 120456651
26 LAMP2 NM_001122606.1(LAMP2): c.191delT (p.Val64Glufs) deletion Likely pathogenic rs397516738 GRCh37 Chromosome X, 119589418: 119589418
27 LAMP2 NM_001122606.1(LAMP2): c.191delT (p.Val64Glufs) deletion Likely pathogenic rs397516738 GRCh38 Chromosome X, 120455563: 120455563
28 LAMP2 NM_002294.2(LAMP2): c.293G> A (p.Trp98Ter) single nucleotide variant Pathogenic rs397516740 GRCh38 Chromosome X, 120455461: 120455461
29 LAMP2 NM_002294.2(LAMP2): c.65-2A> G single nucleotide variant Pathogenic rs397516743 GRCh37 Chromosome X, 119590626: 119590626
30 LAMP2 NM_002294.2(LAMP2): c.65-2A> G single nucleotide variant Pathogenic rs397516743 GRCh38 Chromosome X, 120456771: 120456771
31 LAMP2 NM_002294.2(LAMP2): c.864+3_864+6delGAGT deletion Pathogenic rs397516751 GRCh37 Chromosome X, 119580154: 119580157
32 LAMP2 NM_002294.2(LAMP2): c.864+3_864+6delGAGT deletion Pathogenic rs397516751 GRCh38 Chromosome X, 120446299: 120446302
33 LAMP2 NM_002294.2(LAMP2): c.865-1G> C single nucleotide variant Likely pathogenic rs397516752 GRCh37 Chromosome X, 119576518: 119576518
34 LAMP2 NM_002294.2(LAMP2): c.865-1G> C single nucleotide variant Likely pathogenic rs397516752 GRCh38 Chromosome X, 120442663: 120442663
35 LAMP2 NM_002294.2(LAMP2): c.1093+1G> A single nucleotide variant Pathogenic rs727504742 GRCh37 Chromosome X, 119575584: 119575584
36 LAMP2 NM_002294.2(LAMP2): c.1093+1G> A single nucleotide variant Pathogenic rs727504742 GRCh38 Chromosome X, 120441729: 120441729
37 LAMP2 NM_002294.2(LAMP2): c.999delA (p.Glu334Serfs) deletion Likely pathogenic rs727504557 GRCh37 Chromosome X, 119575679: 119575679
38 LAMP2 NM_002294.2(LAMP2): c.999delA (p.Glu334Serfs) deletion Likely pathogenic rs727504557 GRCh38 Chromosome X, 120441824: 120441824
39 LAMP2 NM_002294.2(LAMP2): c.877C> T (p.Arg293Ter) single nucleotide variant Pathogenic rs727503118 GRCh37 Chromosome X, 119576505: 119576505
40 LAMP2 NM_002294.2(LAMP2): c.877C> T (p.Arg293Ter) single nucleotide variant Pathogenic rs727503118 GRCh38 Chromosome X, 120442650: 120442650
41 LAMP2 NM_002294.2(LAMP2): c.851_852delTT (p.Phe284Cysfs) deletion Pathogenic rs727504648 GRCh37 Chromosome X, 119580172: 119580173
42 LAMP2 NM_002294.2(LAMP2): c.851_852delTT (p.Phe284Cysfs) deletion Pathogenic rs727504648 GRCh38 Chromosome X, 120446317: 120446318
43 LAMP2 NM_002294.2(LAMP2): c.183+1G> A single nucleotide variant Pathogenic rs727503120 GRCh37 Chromosome X, 119590505: 119590505
44 LAMP2 NM_002294.2(LAMP2): c.183+1G> A single nucleotide variant Pathogenic rs727503120 GRCh38 Chromosome X, 120456650: 120456650
45 LAMP2 NM_002294.2(LAMP2): c.1020delT (p.Gly341Glufs) deletion Pathogenic rs727504597 GRCh37 Chromosome X, 119575658: 119575658
46 LAMP2 NM_002294.2(LAMP2): c.1020delT (p.Gly341Glufs) deletion Pathogenic rs727504597 GRCh38 Chromosome X, 120441803: 120441803
47 LAMP2 NM_002294.2(LAMP2): c.929-1G> A single nucleotide variant Likely pathogenic rs727504262 GRCh37 Chromosome X, 119575750: 119575750
48 LAMP2 NM_002294.2(LAMP2): c.929-1G> A single nucleotide variant Likely pathogenic rs727504262 GRCh38 Chromosome X, 120441895: 120441895
49 LAMP2 NM_002294.2(LAMP2): c.864+1G> T single nucleotide variant Pathogenic rs727503119 GRCh37 Chromosome X, 119580159: 119580159
50 LAMP2 NM_002294.2(LAMP2): c.864+1G> T single nucleotide variant Pathogenic rs727503119 GRCh38 Chromosome X, 120446304: 120446304

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
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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36 IUPHAR
37 KEGG
38 LifeMap
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44 MeSH
45 MESH via Orphanet
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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