Fabry Disease [Fabryho nemoc]

topical
187
Terms

Andersonova-Fabryho nemoc
angiokeratoma corporis diffusum
deficience alfa-galaktosidázy A
deficit alfa-galaktosidasy A
deficit alfa-galaktosidázy A
difuzní angiokeratom
Fabryho choroba
Fabryho syndrom
X-vázaná sfingolipidóza

 

alpha-Galactosidase A Deficiency
alpha-Galactosidase A Deficiency Disease
Anderson-Fabry Disease
Angiokeratoma Corporis Diffusum
Angiokeratoma Diffuse
Angiokeratoma, Diffuse
Ceramide Trihexosidase Deficiency
Fabry's Disease
GLA Deficiency
Hereditary Dystopic Lipidosis

Persistent link   https://www.medvik.cz/link/D000795
Definition

An X-linked inherited metabolic disease caused by a deficiency of lysosomal ALPHA-GALACTOSIDASE A. It is characterized by intralysosomal accumulation of globotriaosylceramide and other GLYCOSPHINGOLIPIDS in blood vessels throughout the body leading to multi-system complications including renal, cardiac, cerebrovascular, and skin disorders.

Annotation
do not confuse entry term ANDERSON-FABRY DISEASE with ANDERSEN'S DISEASE
nepleť pojem Andersonova-Fabryho nemoc s Andersenovou nemocí, která patří k deskriptoru GLYKOGENÓZA TYPU IV
DUI
D000795 MeSH Browser
CUI
M0001191
Previous indexing
Angiokeratoma (1966-1972)
History note
1999(1973)
Public note
1999; see FABRY'S DISEASE 1992-1998; see ANGIOKERATOMA CORPORIS DIFFUSUM 1973-1991; for FABRY'S DISEASE see ANGIOKERATOMA CORPORIS DIFFUSUM 1974-1991

Allowable subheadings

BL
blood 10
CF
cerebrospinal fluid
CI
chemically induced
CL
classification 2
CO
complications 34
DI
diagnosis 86
DG
diagnostic imaging 8
DH
diet therapy
DT
drug therapy 45
EC
economics
EM
embryology
EN
enzymology 9
EP
epidemiology 17
EH
ethnology
ET
etiology 23
GE
genetics 53
HI
history
IM
immunology
ME
metabolism 8
MI
microbiology
MO
mortality 2
NU
nursing
PS
parasitology
PA
pathology 25
PP
physiopathology 21
PC
prevention & control 1
PX
psychology
RT
radiotherapy
RH
rehabilitation
SU
surgery
TH
therapy 42
UR
urine 5
VE
veterinary
VI
virology

C Diseases
C10 Nervous System Diseases 1 878
C10.228 Central Nervous System Diseases 808
C10.228.140 Brain Diseases 1 178
C10.228.140.163 Brain Diseases, Metabolic 84
C10.228.140.163.100 Brain Diseases, Metabolic, Inborn 26
C10.228.140.163.100.435 Lysosomal Storage Diseases, Nervous System 13
C10.228.140.163.100.435.825 Sphingolipidoses 12
C10.228.140.163.100.435.825.200 Fabry Disease 187
C10.228.140.163.100.435.825.250 Farber Lipogranulomatosis 5
C10.228.140.163.100.435.825.300 Gangliosidoses 11
C10.228.140.163.100.435.825.400 Gaucher Disease 83
C10.228.140.163.100.435.825.590 Leukodystrophy, Globoid Cell 16
C10.228.140.163.100.435.825.700 Niemann-Pick Diseases 36
C10.228.140.163.100.435.825.775 Sea-Blue Histiocyte Syndrome 4
C10.228.140.163.100.435.825.850 Sulfatidosis 1
C10.228.140.300 Cerebrovascular Disorders 1 646
C10.228.140.300.275 Cerebral Small Vessel Diseases 7
C10.228.140.300.275.249 CADASIL 8
C10.228.140.300.275.311 Cerebral Amyloid Angiopathy, Familial 1
C10.228.140.300.275.374 Fabry Disease 187
C10.228.140.300.275.500 MELAS Syndrome 17
C10.228.140.300.275.600 Microscopic Polyangiitis 30
C10.228.140.300.275.800 Stroke, Lacunar 8
C14 Cardiovascular Diseases 10 507
C14.907 Vascular Diseases 1 790
C14.907.253 Cerebrovascular Disorders 1 646
C14.907.253.329 Cerebral Small Vessel Diseases 7
C14.907.253.329.249 CADASIL 8
C14.907.253.329.311 Cerebral Amyloid Angiopathy, Familial 1
C14.907.253.329.374 Fabry Disease 187
C14.907.253.329.500 MELAS Syndrome 17
C14.907.253.329.600 Microscopic Polyangiitis 30
C14.907.253.329.800 Stroke, Lacunar 8
C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities 439
C16.320 Genetic Diseases, Inborn 1 213
C16.320.322 Genetic Diseases, X-Linked 59
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 187
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 214
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 17
C16.320.322.562 Muscular Dystrophy, Duchenne 133
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
C16.320.565.189 Brain Diseases, Metabolic, Inborn 26
C16.320.565.189.435 Lysosomal Storage Diseases, Nervous System 13
C16.320.565.189.435.825 Sphingolipidoses 12
C16.320.565.189.435.825.200 Fabry Disease 187
C16.320.565.189.435.825.250 Farber Lipogranulomatosis 5
C16.320.565.189.435.825.300 Gangliosidoses 11
C16.320.565.189.435.825.400 Gaucher Disease 83
C16.320.565.189.435.825.590 Leukodystrophy, Globoid Cell 16
C16.320.565.189.435.825.700 Niemann-Pick Diseases 36
C16.320.565.189.435.825.775 Sea-Blue Histiocyte Syndrome 4
C16.320.565.189.435.825.850 Sulfatidosis 1
C16.320.565.398 Lipid Metabolism, Inborn Errors 154
C16.320.565.398.641 Lipidoses 35
C16.320.565.398.641.803 Sphingolipidoses 12
C16.320.565.398.641.803.300 Fabry Disease 187
C16.320.565.398.641.803.325 Farber Lipogranulomatosis 5
C16.320.565.398.641.803.350 Gangliosidoses 11
C16.320.565.398.641.803.441 Gaucher Disease 83
C16.320.565.398.641.803.585 Leukodystrophy, Globoid Cell 16
C16.320.565.398.641.803.730 Niemann-Pick Diseases 36
C16.320.565.398.641.803.850 Sea-Blue Histiocyte Syndrome 4
C16.320.565.398.641.803.925 Sulfatidosis 1
C16.320.565.595 Lysosomal Storage Diseases 72
C16.320.565.595.554 Lysosomal Storage Diseases, Nervous System 13
C16.320.565.595.554.825 Sphingolipidoses 12
C16.320.565.595.554.825.200 Fabry Disease 187
C16.320.565.595.554.825.250 Farber Lipogranulomatosis 5
C16.320.565.595.554.825.300 Gangliosidoses 11
C16.320.565.595.554.825.400 Gaucher Disease 83
C16.320.565.595.554.825.590 Leukodystrophy, Globoid Cell 16
C16.320.565.595.554.825.700 Niemann-Pick Diseases 36
C16.320.565.595.554.825.775 Sea-Blue Histiocyte Syndrome 4
C16.320.565.595.554.825.850 Sulfatidosis 1
C18 Nutritional and Metabolic Diseases 172
C18.452 Metabolic Diseases 1 196
C18.452.132 Brain Diseases, Metabolic 84
C18.452.132.100 Brain Diseases, Metabolic, Inborn 26
C18.452.132.100.435 Lysosomal Storage Diseases, Nervous System 13
C18.452.132.100.435.825 Sphingolipidoses 12
C18.452.132.100.435.825.200 Fabry Disease 187
C18.452.132.100.435.825.250 Farber Lipogranulomatosis 5
C18.452.132.100.435.825.300 Gangliosidoses 11
C18.452.132.100.435.825.400 Gaucher Disease 83
C18.452.132.100.435.825.590 Leukodystrophy, Globoid Cell 16
C18.452.132.100.435.825.700 Niemann-Pick Diseases 36
C18.452.132.100.435.825.775 Sea-Blue Histiocyte Syndrome 4
C18.452.132.100.435.825.850 Sulfatidosis 1
C18.452.584 Lipid Metabolism Disorders 99
C18.452.584.563 Lipid Metabolism, Inborn Errors 154
C18.452.584.563.641 Lipidoses 35
C18.452.584.563.641.803 Sphingolipidoses 12
C18.452.584.563.641.803.300 Fabry Disease 187
C18.452.584.563.641.803.325 Farber Lipogranulomatosis 5
C18.452.584.563.641.803.350 Gangliosidoses 11
C18.452.584.563.641.803.441 Gaucher Disease 83
C18.452.584.563.641.803.585 Leukodystrophy, Globoid Cell 16
C18.452.584.563.641.803.730 Niemann-Pick Diseases 36
C18.452.584.563.641.803.850 Sea-Blue Histiocyte Syndrome 4
C18.452.584.563.641.803.925 Sulfatidosis 1
C18.452.648 Metabolism, Inborn Errors 711
C18.452.648.189 Brain Diseases, Metabolic, Inborn 26
C18.452.648.189.435 Lysosomal Storage Diseases, Nervous System 13
C18.452.648.189.435.825 Sphingolipidoses 12
C18.452.648.189.435.825.200 Fabry Disease 187
C18.452.648.189.435.825.250 Farber Lipogranulomatosis 5
C18.452.648.189.435.825.300 Gangliosidoses 11
C18.452.648.189.435.825.400 Gaucher Disease 83
C18.452.648.189.435.825.590 Leukodystrophy, Globoid Cell 16
C18.452.648.189.435.825.700 Niemann-Pick Diseases 36
C18.452.648.189.435.825.775 Sea-Blue Histiocyte Syndrome 4
C18.452.648.189.435.825.850 Sulfatidosis 1
C18.452.648.398 Lipid Metabolism, Inborn Errors 154
C18.452.648.398.641 Lipidoses 35
C18.452.648.398.641.803 Sphingolipidoses 12
C18.452.648.398.641.803.300 Fabry Disease 187
C18.452.648.398.641.803.325 Farber Lipogranulomatosis 5
C18.452.648.398.641.803.350 Gangliosidoses 11
C18.452.648.398.641.803.441 Gaucher Disease 83
C18.452.648.398.641.803.585 Leukodystrophy, Globoid Cell 16
C18.452.648.398.641.803.730 Niemann-Pick Diseases 36
C18.452.648.398.641.803.850 Sea-Blue Histiocyte Syndrome 4
C18.452.648.398.641.803.925 Sulfatidosis 1
C18.452.648.595 Lysosomal Storage Diseases 72
C18.452.648.595.554 Lysosomal Storage Diseases, Nervous System 13
C18.452.648.595.554.825 Sphingolipidoses 12
C18.452.648.595.554.825.200 Fabry Disease 187
C18.452.648.595.554.825.250 Farber Lipogranulomatosis 5
C18.452.648.595.554.825.300 Gangliosidoses 11
C18.452.648.595.554.825.400 Gaucher Disease 83
C18.452.648.595.554.825.590 Leukodystrophy, Globoid Cell 16
C18.452.648.595.554.825.700 Niemann-Pick Diseases 36
C18.452.648.595.554.825.775 Sea-Blue Histiocyte Syndrome 4
C18.452.648.595.554.825.850 Sulfatidosis 1

Angiokeratoma Corporis Diffusum with Arteriovenous Fistulas Disease MeSH Browser

Fabry Disease, Cardiac Variant Disease MeSH Browser

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