Glycogen Storage Disease Type IIb [glykogenóza typu IIb]

topical
11
Terms

Danonova choroba
deficit lysosomálního membránového proteinu LAMP2
glykogen - nemoc z ukládání typ IIb
pseudoglykogenóza 2
pseudoglykogenóza II

 

Antopol Disease
Danon Disease
Glycogen Storage Cardiomyopathy
Glycogen Storage Disease IIb
Glycogen Storage Disease Limited to the Heart
Glycogen Storage Disease Type 2B
Lysosomal Glycogen Storage Disease with Normal Acid Maltase
Lysosomal Glycogen Storage Disease without Acid Maltase Deficiency
Pseudoglycogenosis 2
Pseudoglycogenosis II
Vacuolar Cardiomyopathy and Myopathy, X-linked
X-Linked Vacuolar Cardiomyopathy and Myopathy

Persistent link   https://www.medvik.cz/link/D052120
Definition

An X-linked dominant multisystem disorder resulting in cardiomyopathy, myopathy and INTELLECTUAL DISABILITY. It is caused by mutation in the gene encoding LYSOSOMAL-ASSOCIATED MEMBRANE PROTEIN 2.

DUI
D052120 MeSH Browser
CUI
M0483279
History note
2006
Public note
2006

Allowable subheadings

BL
blood 1
CF
cerebrospinal fluid
CI
chemically induced
CL
classification
CO
complications 3
DI
diagnosis 9
DG
diagnostic imaging
DH
diet therapy
DT
drug therapy
EC
economics
EM
embryology
EN
enzymology
EP
epidemiology 1
EH
ethnology
ET
etiology 1
GE
genetics 6
HI
history
IM
immunology
ME
metabolism
MI
microbiology
MO
mortality
NU
nursing
PS
parasitology
PA
pathology 2
PP
physiopathology 2
PC
prevention & control
PX
psychology
RT
radiotherapy
RH
rehabilitation
SU
surgery
TH
therapy 1
UR
urine
VE
veterinary
VI
virology

C Diseases
C10 Nervous System Diseases 1 879
C10.597 Neurologic Manifestations 1 053
C10.597.606 Neurobehavioral Manifestations 208
C10.597.606.360 Intellectual Disability 1 047
C10.597.606.360.455 X-Linked Intellectual Disability 18
C10.597.606.360.455.124 Adrenoleukodystrophy 41
C10.597.606.360.455.249 Coffin-Lowry Syndrome
C10.597.606.360.455.500 Fragile X Syndrome 63
C10.597.606.360.455.562 Glycogen Storage Disease Type IIb 11
C10.597.606.360.455.625 Lesch-Nyhan Syndrome 20
C10.597.606.360.455.687 Menkes Kinky Hair Syndrome 12
C10.597.606.360.455.750 Mucopolysaccharidosis II 25
C10.597.606.360.455.875 Pyruvate Dehydrogenase Complex Deficiency Disease 9
C10.597.606.360.455.937 Rett Syndrome 52
C14 Cardiovascular Diseases 10 543
C14.280 Heart Diseases 2 873
C14.280.238 Cardiomyopathies 1 059
C14.280.238.028 Arrhythmogenic Right Ventricular Dysplasia 60
C14.280.238.057 Cardiomyopathy, Alcoholic 16
C14.280.238.070 Cardiomyopathy, Dilated 341
C14.280.238.100 Cardiomyopathy, Hypertrophic 510
C14.280.238.160 Cardiomyopathy, Restrictive 71
C14.280.238.190 Chagas Cardiomyopathy 5
C14.280.238.235 Diabetic Cardiomyopathies 68
C14.280.238.281 Endocardial Fibroelastosis 20
C14.280.238.406 Endomyocardial Fibrosis 31
C14.280.238.458 Glycogen Storage Disease Type IIb 11
C14.280.238.510 Kearns-Sayre Syndrome 11
C14.280.238.615 Myocardial Reperfusion Injury 225
C14.280.238.625 Myocarditis 378
C14.280.238.719 Peripartum Cardiomyopathy
C14.280.238.812 Sarcoglycanopathies 2
C14.280.238.906 Takotsubo Cardiomyopathy 79
C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities 439
C16.320 Genetic Diseases, Inborn 1 214
C16.320.322 Genetic Diseases, X-Linked 60
C16.320.322.030 Aicardi Syndrome
C16.320.322.061 Androgen-Insensitivity Syndrome 56
C16.320.322.068 Barth Syndrome 6
C16.320.322.076 Bulbo-Spinal Atrophy, X-Linked 8
C16.320.322.092 Choroideremia 3
C16.320.322.100 Dent Disease 1
C16.320.322.108 Dyskeratosis Congenita 9
C16.320.322.116 Ectodermal Dysplasia 1, Anhidrotic 3
C16.320.322.124 Fabry Disease 189
C16.320.322.186 Focal Dermal Hypoplasia 6
C16.320.322.201 Glycogen Storage Disease Type IIb 11
C16.320.322.217 Glycogen Storage Disease Type VIII
C16.320.322.233 Granulomatous Disease, Chronic 54
C16.320.322.235 Hemophilia B 216
C16.320.322.237 Hyper-IgM Immunodeficiency Syndrome, Type 1 2
C16.320.322.241 Ichthyosis, X-Linked 9
C16.320.322.370 Isolated Noncompaction of the Ventricular Myocardium 11
C16.320.322.500 X-Linked Intellectual Disability 18
C16.320.322.562 Muscular Dystrophy, Duchenne 135
C16.320.322.625 Muscular Dystrophy, Emery-Dreifuss 18
C16.320.322.750 Oculocerebrorenal Syndrome 9
C16.320.322.828 Ornithine Carbamoyltransferase Deficiency Disease 19
C16.320.322.906 Pelizaeus-Merzbacher Disease 11
C16.320.322.937 Wiskott-Aldrich Syndrome 20
C16.320.322.968 X-Linked Combined Immunodeficiency Diseases 4
C16.320.565 Metabolism, Inborn Errors 711
C16.320.565.202 Carbohydrate Metabolism, Inborn Errors 36
C16.320.565.202.449 Glycogen Storage Disease 44
C16.320.565.202.449.448 Glycogen Storage Disease Type I 15
C16.320.565.202.449.500 Glycogen Storage Disease Type II 59
C16.320.565.202.449.510 Glycogen Storage Disease Type IIb 11
C16.320.565.202.449.520 Glycogen Storage Disease Type III 8
C16.320.565.202.449.540 Glycogen Storage Disease Type IV 1
C16.320.565.202.449.560 Glycogen Storage Disease Type V
C16.320.565.202.449.580 Glycogen Storage Disease Type VI
C16.320.565.202.449.600 Glycogen Storage Disease Type VII
C16.320.565.202.449.620 Glycogen Storage Disease Type VIII
C18 Nutritional and Metabolic Diseases 172
C18.452 Metabolic Diseases 1 197
C18.452.648 Metabolism, Inborn Errors 711
C18.452.648.202 Carbohydrate Metabolism, Inborn Errors 36
C18.452.648.202.449 Glycogen Storage Disease 44
C18.452.648.202.449.448 Glycogen Storage Disease Type I 15
C18.452.648.202.449.500 Glycogen Storage Disease Type II 59
C18.452.648.202.449.510 Glycogen Storage Disease Type IIb 11
C18.452.648.202.449.520 Glycogen Storage Disease Type III 8
C18.452.648.202.449.540 Glycogen Storage Disease Type IV 1
C18.452.648.202.449.560 Glycogen Storage Disease Type V
C18.452.648.202.449.580 Glycogen Storage Disease Type VI
C18.452.648.202.449.600 Glycogen Storage Disease Type VII
C18.452.648.202.449.620 Glycogen Storage Disease Type VIII

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