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- Entity Type
- Diseases
- Relation Groups
- 1
- Relation Preview
- 8
Basic Information
Grouped by core information, identifiers, and descriptions.
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Core Information
- Disease Name
- Cockayne Syndrome
- Standard Disease Name
- cockayne syndrome
- MeSH Tree
- No data
- ICD-10
- Q87.1
Identifiers
- DO ID
- No data
- MeSH ID
- D003057
- OMIM ID
- No data
- UMLS ID
- C0009207
- HPO ID
- No data
Description and Extensions
- Description
- NCI2016_NCI-GLOSS_1602D:A genetic condition characterized by short stature, premature aging, sensitivity to light, and possibly deafness and mental retardation.|NCI2016_02D:An autosomal recessive syndrome caused by mutations in the ERCC8 and ERCC6 genes. It is characterized by growth and developmental delay, vision and hearing impairment, and impairment of the peripheral nervous system function.|MSH2017_2016_08_12: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.|JABL99:A syndrome of hypersensitivity to sunlight, dwarfism, microcephaly, psychomotor retardation, prematurely senile appearance, and retinal pigmentation. The syndrome is sometimes differentiated as Type 1 or A (onset at age 2 years or later), Type 2 or B (named later COMFAK, q.v.), and Type 3 or C (considered as a part of xeroderma pigmentosum complementation group B).