Cockayne Syndrome [Cockayneův syndrom]

topical
4
Terms

Cockaynův syndrom I
Cockaynův syndrom II
Cockaynův syndrom III
klasický Cockaynův syndrom
Neill-Dingwallův syndrom

 

Cockayne Syndrome Type 3
Cockayne Syndrome Type C
Cockayne Syndrome, Group A
Cockayne Syndrome, Group B
Cockayne Syndrome, Group C
Cockayne Syndrome, Type A
Cockayne Syndrome, Type B
Cockayne Syndrome, Type C
Cockayne Syndrome, Type I
Cockayne Syndrome, Type II
Cockayne Syndrome, Type III
Dwarfism-Retinal Atrophy-Deafness Syndrome
Group A Cockayne Syndrome
Group B Cockayne Syndrome
Group C Cockayne Syndrome
Progeria-Like Syndrome
Progeroid Nanism
Type A Cockayne Syndrome
Type B Cockayne Syndrome
Type C Cockayne Syndrome
Type I Cockayne Syndrome
Type II Cockayne Syndrome
Type III Cockayne Syndrome

Persistent link   https://www.medvik.cz/link/D003057
Definition

A syndrome characterized by multiple system abnormalities including DWARFISM; PHOTOSENSITIVITY DISORDERS; PREMATURE AGING; and HEARING LOSS. It is caused by mutations of a number of autosomal recessive genes encoding proteins that involve transcriptional-coupled DNA REPAIR processes. Cockayne syndrome is classified by the severity and age of onset. Type I (classical; CSA) is early childhood onset in the second year of life; type II (congenital; CSB) is early onset at birth with severe symptoms; type III (xeroderma pigmentosum; XP) is late childhood onset with mild symptoms.

DUI
D003057 MeSH Browser
CUI
M0004689
Previous indexing
Dwarfism (1966-1980); Photosensitivity Disorders (1966-1980)
History note
1991(1981); use DWARFISM 1981-1990
Public note
1991; see DWARFISM 1981-1990

Allowable subheadings

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

C Diseases
C05 Musculoskeletal Diseases 1 125
C05.116 Bone Diseases 796
C05.116.099 Bone Diseases, Developmental 293
C05.116.099.343 Dwarfism 99
C05.116.099.343.110 Achondroplasia 71
C05.116.099.343.250 Cockayne Syndrome 4
C05.116.099.343.347 Congenital Hypothyroidism 151
C05.116.099.343.445 Dwarfism, Pituitary 50
C05.116.099.343.679 Laron Syndrome 1
C05.116.099.343.796 Mulibrey Nanism 1
C05.116.099.343.957 Weill-Marchesani Syndrome 1
C10 Nervous System Diseases 1 884
C10.574 Neurodegenerative Diseases 649
C10.574.500 Heredodegenerative Disorders, Nervous System 46
C10.574.500.024 Alexander Disease 6
C10.574.500.050 Amyloid Neuropathies, Familial 21
C10.574.500.175 Bulbo-Spinal Atrophy, X-Linked 8
C10.574.500.300 Canavan Disease 9
C10.574.500.362 Cockayne Syndrome 4
C10.574.500.393 Dystonia Musculorum Deformans 3
C10.574.500.425 Gerstmann-Straussler-Scheinker Disease 22
C10.574.500.487 Hepatolenticular Degeneration 243
C10.574.500.490 Hereditary Central Nervous System Demyelinating Diseases 12
C10.574.500.493 Hereditary Sensory and Autonomic Neuropathies 26
C10.574.500.495 Hereditary Sensory and Motor Neuropathy 72
C10.574.500.497 Huntington Disease 326
C10.574.500.529 Lafora Disease 1
C10.574.500.545 Myotonia Congenita 18
C10.574.500.547 Myotonic Dystrophy 96
C10.574.500.549 Neurofibromatoses 28
C10.574.500.550 Neuronal Ceroid-Lipofuscinoses 29
C10.574.500.662 Optic Atrophies, Hereditary 5
C10.574.500.700 Pantothenate Kinase-Associated Neurodegeneration 17
C10.574.500.812 Spinal Muscular Atrophies of Childhood 59
C10.574.500.825 Spinocerebellar Degenerations 30
C10.574.500.850 Tourette Syndrome 86
C10.574.500.865 Tuberous Sclerosis 144
C10.574.500.875 Unverricht-Lundborg Syndrome 1
C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities 439
C16.131 Congenital Abnormalities 1 753
C16.131.077 Abnormalities, Multiple 330
C16.131.077.019 22q11 Deletion Syndrome 2
C16.131.077.065 Alagille Syndrome 19
C16.131.077.095 Angelman Syndrome 35
C16.131.077.121 Barth Syndrome 6
C16.131.077.130 Basal Cell Nevus Syndrome 33
C16.131.077.133 Beckwith-Wiedemann Syndrome 17
C16.131.077.137 Bloom Syndrome 11
C16.131.077.208 Branchio-Oto-Renal Syndrome 5
C16.131.077.229 Carney Complex 8
C16.131.077.245 Ciliopathies 9
C16.131.077.250 Cockayne Syndrome 4
C16.131.077.256 Costello Syndrome 3
C16.131.077.262 Cri-du-Chat Syndrome 11
C16.131.077.272 De Lange Syndrome 4
C16.131.077.299 Deaf-Blind Disorders 65
C16.131.077.313 Donohue Syndrome 1
C16.131.077.327 Down Syndrome 510
C16.131.077.350 Ectodermal Dysplasia 33
C16.131.077.371 Fraser Syndrome 2
C16.131.077.393 Gardner Syndrome 21
C16.131.077.401 Heterotaxy Syndrome 7
C16.131.077.410 Holoprosencephaly 9
C16.131.077.445 Incontinentia Pigmenti 19
C16.131.077.477 Isolated Noncompaction of the Ventricular Myocardium 11
C16.131.077.509 Laurence-Moon Syndrome 6
C16.131.077.525 LEOPARD Syndrome 11
C16.131.077.537 Loeys-Dietz Syndrome 7
C16.131.077.550 Marfan Syndrome 105
C16.131.077.578 Mobius Syndrome 10
C16.131.077.592 Monilethrix 1
C16.131.077.606 Nail-Patella Syndrome 8
C16.131.077.619 Netherton Syndrome 2
C16.131.077.633 Nevus, Sebaceous of Jadassohn 7
C16.131.077.662 Oculocerebrorenal Syndrome 9
C16.131.077.676 Orofaciodigital Syndromes 7
C16.131.077.690 Pallister-Hall Syndrome
C16.131.077.696 Pentalogy of Cantrell 1
C16.131.077.703 POEMS Syndrome 35
C16.131.077.717 Polycystic Kidney Diseases 83
C16.131.077.730 Prader-Willi Syndrome 92
C16.131.077.735 Prolidase Deficiency
C16.131.077.740 Proteus Syndrome 8
C16.131.077.745 Prune Belly Syndrome 3
C16.131.077.790 Rubella Syndrome, Congenital 20
C16.131.077.804 Rubinstein-Taybi Syndrome 12
C16.131.077.850 Short Rib-Polydactyly Syndrome 3
C16.131.077.855 Silver-Russell Syndrome 3
C16.131.077.860 Smith-Lemli-Opitz Syndrome 30
C16.131.077.879 Smith-Magenis Syndrome 2
C16.131.077.889 Sotos Syndrome 4
C16.131.077.899 Trichothiodystrophy Syndromes 1
C16.131.077.919 Trisomy 13 Syndrome 6
C16.131.077.929 Trisomy 18 Syndrome 5
C16.131.077.938 Waardenburg Syndrome 10
C16.131.077.941 Weill-Marchesani Syndrome 1
C16.131.077.944 Wolf-Hirschhorn Syndrome
C16.131.077.970 Zellweger Syndrome 10
C16.320 Genetic Diseases, Inborn 1 215
C16.320.240 Dwarfism 99
C16.320.240.500 Achondroplasia 71
C16.320.240.562 Cockayne Syndrome 4
C16.320.240.625 Congenital Hypothyroidism 151
C16.320.240.750 Laron Syndrome 1
C16.320.240.875 Mulibrey Nanism 1
C16.320.240.937 Silver-Russell Syndrome 3
C16.320.400 Heredodegenerative Disorders, Nervous System 46
C16.320.400.024 Alexander Disease 6
C16.320.400.050 Amyloid Neuropathies, Familial 21
C16.320.400.100 Bulbo-Spinal Atrophy, X-Linked 8
C16.320.400.150 Canavan Disease 9
C16.320.400.200 Cockayne Syndrome 4
C16.320.400.330 Dystonia Musculorum Deformans 3
C16.320.400.350 Gerstmann-Straussler-Scheinker Disease 22
C16.320.400.361 Hepatolenticular Degeneration 243
C16.320.400.367 Hereditary Central Nervous System Demyelinating Diseases 12
C16.320.400.375 Hereditary Sensory and Motor Neuropathy 72
C16.320.400.415 Hereditary Sensory and Autonomic Neuropathies 26
C16.320.400.430 Huntington Disease 326
C16.320.400.480 Lafora Disease 1
C16.320.400.525 X-Linked Intellectual Disability 18
C16.320.400.540 Myotonia Congenita 18
C16.320.400.542 Myotonic Dystrophy 96
C16.320.400.550 Neuroacanthocytosis 6
C16.320.400.560 Neurofibromatoses 28
C16.320.400.600 Neuronal Ceroid-Lipofuscinoses 29
C16.320.400.630 Optic Atrophies, Hereditary 5
C16.320.400.650 Pantothenate Kinase-Associated Neurodegeneration 17
C16.320.400.765 Spinal Muscular Atrophies of Childhood 59
C16.320.400.780 Spinocerebellar Degenerations 30
C16.320.400.820 Tourette Syndrome 86
C16.320.400.880 Tuberous Sclerosis 144
C16.320.400.940 Unverricht-Lundborg Syndrome 1
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

Cerebrooculofacioskeletal Syndrome 1 Disease MeSH Browser

Cerebrooculofacioskeletal Syndrome 3 Disease MeSH Browser

XFE Progeroid Syndrome Disease MeSH Browser

Xeroderma Pigmentosum B-Cockayne Syndrome Disease MeSH Browser

Xeroderma Pigmentosum, Type G-Cockayne Syndrome Disease MeSH Browser

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