Ataxia Telangiectasia [teleangiektatická ataxie]

topical
48
Terms

ataxia telangiectasia
ataxie teleangiektatická
syndrom Louis-Barové

 

Ataxia Telangiectasia Syndrome
Ataxia-Telangiectasia
Louis-Bar Syndrome
Telangiectasia, Cerebello-Oculocutaneous

Persistent link   https://www.medvik.cz/link/D001260
Definition

An autosomal recessive inherited disorder characterized by choreoathetosis beginning in childhood, progressive CEREBELLAR ATAXIA; TELANGIECTASIS of CONJUNCTIVA and SKIN; DYSARTHRIA; B- and T-cell immunodeficiency, and RADIOSENSITIVITY to IONIZING RADIATION. Affected individuals are prone to recurrent sinobronchopulmonary infections, lymphoreticular neoplasms, and other malignancies. Serum ALPHA-FETOPROTEINS are usually elevated. (Menkes, Textbook of Child Neurology, 5th ed, p688) The gene for this disorder (ATM) encodes a cell cycle checkpoint protein kinase and has been mapped to chromosome 11 (11q22-q23).

DUI
D001260 MeSH Browser
CUI
M0001898
Previous indexing
Ataxia (1966-1967)
History note
1968
Public note
1968

Allowable subheadings

BL
blood
CF
cerebrospinal fluid
CI
chemically induced
CL
classification
CO
complications 3
DI
diagnosis 16
DG
diagnostic imaging
DH
diet therapy
DT
drug therapy 1
EC
economics
EM
embryology
EN
enzymology
EP
epidemiology
EH
ethnology
ET
etiology 6
GE
genetics 26
HI
history
IM
immunology 3
ME
metabolism 4
MI
microbiology
MO
mortality 1
NU
nursing
PS
parasitology
PA
pathology
PP
physiopathology 3
PC
prevention & control 2
PX
psychology
RT
radiotherapy
RH
rehabilitation
SU
surgery
TH
therapy 5
UR
urine
VE
veterinary
VI
virology

C Diseases
C10 Nervous System Diseases 1 884
C10.228 Central Nervous System Diseases 810
C10.228.140 Brain Diseases 1 183
C10.228.140.252 Cerebellar Diseases 167
C10.228.140.252.190 Cerebellar Ataxia 65
C10.228.140.252.190.530 Spinocerebellar Ataxias 76
C10.228.140.252.190.530.060 Ataxia Telangiectasia 48
C10.228.140.252.190.530.530 Machado-Joseph Disease 3
C10.562 Neurocutaneous Syndromes 30
C10.562.100 Ataxia Telangiectasia 48
C10.562.600 Neurofibromatoses 28
C10.562.700 Nevus, Sebaceous of Jadassohn 7
C10.562.800 Sturge-Weber Syndrome 26
C10.562.850 Tuberous Sclerosis 144
C10.562.925 von Hippel-Lindau Disease 57
C10.597 Neurologic Manifestations 1 055
C10.597.350 Dyskinesias 89
C10.597.350.090 Ataxia 99
C10.597.350.090.500 Cerebellar Ataxia 65
C10.597.350.090.500.530 Spinocerebellar Ataxias 76
C10.597.350.090.500.530.060 Ataxia Telangiectasia 48
C10.597.350.090.500.530.530 Machado-Joseph Disease 3
C14 Cardiovascular Diseases 10 552
C14.907 Vascular Diseases 1 793
C14.907.823 Telangiectasis 57
C14.907.823.213 Ataxia Telangiectasia 48
C14.907.823.225 CREST Syndrome 6
C14.907.823.502 Retinal Telangiectasis 3
C14.907.823.780 Telangiectasia, Hereditary Hemorrhagic 34
C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities 439
C16.320 Genetic Diseases, Inborn 1 215
C16.320.033 Adrenal Hyperplasia, Congenital 226
C16.320.051 Alagille Syndrome 19
C16.320.060 alpha 1-Antitrypsin Deficiency 86
C16.320.070 Anemia, Hemolytic, Congenital 48
C16.320.077 Anemia, Hypoplastic, Congenital 3
C16.320.080 Ataxia Telangiectasia 48
C16.320.089 Autoimmune Lymphoproliferative Syndrome 2
C16.320.099 Blood Coagulation Disorders, Inherited 64
C16.320.100 Brugada Syndrome 40
C16.320.129 CADASIL 8
C16.320.144 Camurati-Engelmann Syndrome 6
C16.320.160 Cardiomyopathy, Hypertrophic, Familial 33
C16.320.165 CHARGE Syndrome 1
C16.320.170 Cherubism 1
C16.320.180 Chromosome Disorders 260
C16.320.184 Ciliopathies 9
C16.320.188 Costello Syndrome 3
C16.320.190 Cystic Fibrosis 1 330
C16.320.215 Donohue Syndrome 1
C16.320.240 Dwarfism 99
C16.320.290 Eye Diseases, Hereditary 58
C16.320.298 Familial Multiple Lipomatosis
C16.320.306 Frasier Syndrome
C16.320.314 GATA2 Deficiency 2
C16.320.322 Genetic Diseases, X-Linked 60
C16.320.338 Genetic Diseases, Y-Linked 1
C16.320.355 Hajdu-Cheney Syndrome 6
C16.320.365 Hemoglobinopathies 68
C16.320.382 Hereditary Autoinflammatory Diseases 47
C16.320.400 Heredodegenerative Disorders, Nervous System 46
C16.320.413 Hyper-IgM Immunodeficiency Syndrome 4
C16.320.427 Hyperthyroxinemia, Familial Dysalbuminemic 2
C16.320.447 Imprinting Disorders
C16.320.467 Kallmann Syndrome 10
C16.320.480 Kartagener Syndrome 46
C16.320.488 Laminopathies 2
C16.320.495 Lennox Gastaut Syndrome 6
C16.320.510 Loeys-Dietz Syndrome 7
C16.320.540 Marfan Syndrome 105
C16.320.565 Metabolism, Inborn Errors 714
C16.320.577 Muscular Dystrophies 141
C16.320.590 Myasthenic Syndromes, Congenital 21
C16.320.600 Nail-Patella Syndrome 8
C16.320.700 Neoplastic Syndromes, Hereditary 144
C16.320.709 Oculocerebrorenal Syndrome 9
C16.320.714 Orofaciodigital Syndromes 7
C16.320.718 Osteoarthropathy, Primary Hypertrophic 127
C16.320.728 Osteochondrodysplasias 125
C16.320.737 Osteogenesis Imperfecta 106
C16.320.775 Pain Insensitivity, Congenital 10
C16.320.784 Pelger-Huet Anomaly 7
C16.320.798 Primary Immunodeficiency Diseases 48
C16.320.798.250 Ataxia Telangiectasia 48
C16.320.798.313 Bloom Syndrome 11
C16.320.798.375 Chediak-Higashi Syndrome 4
C16.320.798.500 Hereditary Complement Deficiency Diseases 5
C16.320.798.625 Hyper-IgM Immunodeficiency Syndrome 4
C16.320.798.688 Job Syndrome 16
C16.320.798.719 Leukocyte-Adhesion Deficiency Syndrome 3
C16.320.798.750 Severe Combined Immunodeficiency 64
C16.320.798.875 Wiskott-Aldrich Syndrome 20
C16.320.812 Pycnodysostosis 2
C16.320.831 Renal Tubular Transport, Inborn Errors 36
C16.320.850 Skin Diseases, Genetic 89
C16.320.925 Werner Syndrome 14
C16.320.962 Yellow Nail Syndrome
C18 Nutritional and Metabolic Diseases 172
C18.452 Metabolic Diseases 1 200
C18.452.284 DNA Repair-Deficiency Disorders 10
C18.452.284.060 Ataxia Telangiectasia 48
C18.452.284.100 Bloom Syndrome 11
C18.452.284.250 Cockayne Syndrome 4
C18.452.284.255 Colorectal Neoplasms, Hereditary Nonpolyposis 114
C18.452.284.280 Fanconi Anemia 46
C18.452.284.520 Li-Fraumeni Syndrome 39
C18.452.284.600 Nijmegen Breakage Syndrome 21
C18.452.284.760 Rothmund-Thomson Syndrome 8
C18.452.284.800 Severe Combined Immunodeficiency 64
C18.452.284.960 Werner Syndrome 14
C18.452.284.975 Xeroderma Pigmentosum 25
C20 Immune System Diseases 748
C20.673 Immunologic Deficiency Syndromes 1 110
C20.673.795 Primary Immunodeficiency Diseases 48
C20.673.795.250 Ataxia Telangiectasia 48
C20.673.795.313 Bloom Syndrome 11
C20.673.795.375 Chediak-Higashi Syndrome 4
C20.673.795.500 Hereditary Complement Deficiency Diseases 5
C20.673.795.625 Hyper-IgM Immunodeficiency Syndrome 4
C20.673.795.688 Job Syndrome 16
C20.673.795.719 Leukocyte-Adhesion Deficiency Syndrome 3
C20.673.795.750 Severe Combined Immunodeficiency 64
C20.673.795.875 Wiskott-Aldrich Syndrome 20

Ataxia Telangiectasia Like Disorder Disease MeSH Browser

Ataxia-Telangiectasia Variant Disease MeSH Browser

Ataxia-Telangiectasia Variant V2 Disease MeSH Browser

Ataxia-Telangiectasia with Generalized Skin Pigmentation and Early Death Disease MeSH Browser

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