DeCS

Descriptor English:

Cockayne Syndrome

Descriptor Spanish:

Síndrome de Cockayne

Spanish from Spain

Descriptor	síndrome de Cockayne
Entry term(s)	síndrome tipo progeria
Scope note:	Síndrome hereditario caracterizado fenotípicamente por una facies inusual (orejas grandes y ojos hundidos), trastornos del crecimiento, deterioro intelectual, pérdida de grasa subcutánea, degeneración pigmentosa de la retina, sordera neural, enanismo, fotosensibilidad, atrofia óptica, neuropatía perférica y cataratas. El examen patológico revela una pérdida parcheada de la mielina central y atrofia de la sustancia blanca. El síndrome de Cockayne puede dividirse en dos o más subtipos genéticos distintos (Menkes, Textbook of Child Neurology, 5th ed, p 197).

Descriptor Portuguese:

Síndrome de Cockayne

Descriptor French:

Syndrome de Cockayne

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
Progeria-Like Syndrome
Progeria-Like Syndromes
Progeroid Nanism
Syndrome, Cockayne
Syndrome, Progeria-Like
Type A Cockayne Syndrome
Type B Cockayne Syndrome
Type C Cockayne Syndrome
Type I Cockayne Syndrome
Type II Cockayne Syndrome
Type III 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

RDF Unique Identifier:

https://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.

Allowable Qualifiers:

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

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.
Preferred term	Cockayne Syndrome
Entry term(s)	Dwarfism-Retinal Atrophy-Deafness Syndrome Progeria Like Syndrome Progeria-Like Syndrome Progeria-Like Syndromes Progeroid Nanism Syndrome, Cockayne Syndrome, Progeria-Like

Concept UI	M0337666
Scope note	Caused by mutations of gene ERCC6.
Preferred term	Cockayne Syndrome, Type II
Entry term(s)	Cockayne Syndrome, Group B Cockayne Syndrome, Type B Group B Cockayne Syndrome Type B Cockayne Syndrome Type II Cockayne Syndrome

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.
Preferred term	Cockayne Syndrome, Type III
Entry term(s)	Cockayne Syndrome Type 3 Cockayne Syndrome Type C Cockayne Syndrome, Group C Cockayne Syndrome, Type C Group C Cockayne Syndrome Type C Cockayne Syndrome Type III Cockayne Syndrome

Concept UI	M0337665
Scope note	Caused by mutations of gene CKN1.
Preferred term	Cockayne Syndrome, Type I
Entry term(s)	Cockayne Syndrome, Group A Cockayne Syndrome, Type A Group A Cockayne Syndrome Type A Cockayne Syndrome Type I Cockayne Syndrome

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