MeSH Browser

MeSH Heading: Cockayne Syndrome
Tree Number(s): C05.116.099.343.250; C10.574.500.362; C16.131.077.250; C16.320.240.562; C16.320.400.200; C18.452.284.250
Unique ID: D003057
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/D003057
Scope Note: 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.
Entry Term(s): 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
Previous Indexing: Dwarfism (1966-1980); Photosensitivity Disorders (1966-1980)
See Also: Intellectual Disability
Public MeSH Note: 1991; see DWARFISM 1981-1990
History Note: 1991(1981); use DWARFISM 1981-1990
Date Established: 1991/01/01
Date of Entry: 1980/05/09
Revision Date: 2013/07/08

Allowable Qualifiers: blood (BL)

cerebrospinal fluid (CF)

chemically induced (CI)

classification (CL)

complications (CO)

diagnosis (DI)

diagnostic imaging (DG)

diet therapy (DH)

drug therapy (DT)

economics (EC)

embryology (EM)

enzymology (EN)

epidemiology (EP)

ethnology (EH)

etiology (ET)

genetics (GE)

history (HI)

immunology (IM)

metabolism (ME)

microbiology (MI)

mortality (MO)

nursing (NU)

parasitology (PS)

pathology (PA)

physiopathology (PP)

prevention & control (PC)

psychology (PX)

radiotherapy (RT)

rehabilitation (RH)

surgery (SU)

therapy (TH)

urine (UR)

veterinary (VE)

virology (VI)

Musculoskeletal Diseases [C05]
- Bone Diseases [C05.116]
  - Bone Diseases, Developmental [C05.116.099]
    - Dwarfism [C05.116.099.343]

Nervous System Diseases [C10]
- Neurodegenerative Diseases [C10.574]
  - Heredodegenerative Disorders, Nervous System [C10.574.500]

Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Congenital Abnormalities [C16.131]
  - Abnormalities, Multiple [C16.131.077]

Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Genetic Diseases, Inborn [C16.320]
  - Dwarfism [C16.320.240]

Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Genetic Diseases, Inborn [C16.320]
  - Heredodegenerative Disorders, Nervous System [C16.320.400]

Nutritional and Metabolic Diseases [C18]
- Metabolic Diseases [C18.452]
  - DNA Repair-Deficiency Disorders [C18.452.284]

Cockayne Syndrome Preferred

Concept UI: M0004689
Scope Note: 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.
Terms: Cockayne Syndrome Preferred Term
Term UI T008848
Date01/01/1999
LexicalTag EPO
ThesaurusID; Dwarfism-Retinal Atrophy-Deafness Syndrome
Term UI T841130
Date04/18/2013
LexicalTag NON
ThesaurusID GHR (2014); Progeria-Like Syndrome
Term UI T373089
Date11/03/1999
LexicalTag NON
ThesaurusID; Progeroid Nanism
Term UI T841131
Date04/18/2013
LexicalTag NON
ThesaurusID GHR (2014)

Cockayne Syndrome, Type I Narrower

Concept UI: M0337665
Scope Note: Caused by mutations of gene CKN1.
Terms: Cockayne Syndrome, Type I Preferred Term
Term UI T373104
Date11/03/1999
LexicalTag EPO
ThesaurusID NLM (2000); Cockayne Syndrome, Group A
Term UI T373090
Date11/03/1999
LexicalTag EPO
ThesaurusID NLM (2000); Cockayne Syndrome, Type A
Term UI T373093
Date11/03/1999
LexicalTag EPO
ThesaurusID; Group A Cockayne Syndrome
Term UI T373091
Date11/03/1999
LexicalTag EPO
ThesaurusID NLM (2000); Type A Cockayne Syndrome
Term UI T373092
Date11/03/1999
LexicalTag EPO
ThesaurusID NLM (2000); Type I Cockayne Syndrome
Term UI T373105
Date11/03/1999
LexicalTag EPO
ThesaurusID NLM (2000)

Cockayne Syndrome, Type II Narrower

Concept UI: M0337666
Scope Note: Caused by mutations of gene ERCC6.
Terms: Cockayne Syndrome, Type II Preferred Term
Term UI T373106
Date11/03/1999
LexicalTag EPO
ThesaurusID NLM (2000); Cockayne Syndrome, Group B
Term UI T373094
Date11/03/1999
LexicalTag EPO
ThesaurusID NLM (2000); Cockayne Syndrome, Type B
Term UI T373097
Date11/03/1999
LexicalTag EPO
ThesaurusID; Group B Cockayne Syndrome
Term UI T373095
Date11/03/1999
LexicalTag EPO
ThesaurusID NLM (2000); Type B Cockayne Syndrome
Term UI T373096
Date11/03/1999
LexicalTag EPO
ThesaurusID NLM (2000); Type II Cockayne Syndrome
Term UI T373107
Date11/03/1999
LexicalTag EPO
ThesaurusID NLM (2000)

Cockayne Syndrome, Type III Narrower

Concept UI: M0337667
Scope Note: Type C is a rare form. Its genetic defect is not clear; appears to be a heterogeneous group. OMIM suggests that Type C should not be used anymore.
Terms: Cockayne Syndrome, Type III Preferred Term
Term UI T373100
Date11/03/1999
LexicalTag EPO
ThesaurusID; Cockayne Syndrome Type 3
Term UI T751635
Date05/22/2009
LexicalTag EPO
ThesaurusID; Cockayne Syndrome Type C
Term UI T751634
Date05/22/2009
LexicalTag EPO
ThesaurusID; Cockayne Syndrome, Group C
Term UI T373098
Date11/03/1999
LexicalTag NON
ThesaurusID NLM (2000); Cockayne Syndrome, Type C
Term UI T373099
Date11/03/1999
LexicalTag EPO
ThesaurusID NLM (2000); Group C Cockayne Syndrome
Term UI T373101
Date11/03/1999
LexicalTag EPO
ThesaurusID NLM (2000); Type C Cockayne Syndrome
Term UI T373108
Date11/03/1999
LexicalTag EPO
ThesaurusID NLM (2000); Type III Cockayne Syndrome
Term UI T373102
Date11/03/1999
LexicalTag EPO
ThesaurusID NLM (2000)

Cockayne Syndrome MeSH Descriptor Data 2024