loading...| Preferred Name |
Cockayne syndrome |
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| Synonyms |
Cokayne syndrome Type I Cockayne Syndrome cockayne syndrome Progeria-Like Syndromes Cockayne Syndrome, Group B Cockayne Syndrome, Group C Type III Cockayne Syndrome Cockayne Syndrome Type 3 Cockayne Syndrome, Type B Cockayne Syndrome, Type II Cockayne Syndrome Type C Group A Cockayne Syndrome Progeria-Like Syndrome Dwarfism-retinal atrophy-deafness syndrome Cockayne's syndrome Cockayne syndrome (disorder) Type A Cockayne Syndrome |
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| Definitions |
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. A simple genetic disease that is caused by a rare autosomal recessive mutations in two DNA excision repair proteins, ERCC-8 and ERCC-6, and characterized by growth failure, impaired development of the nervous system, abnormal sensitivity to sunlight (photosensitivity), and premature aging. Caused by mutations of gene ERCC6. Caused by mutations of gene CKN1. 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. 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. |
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| ID |
http://www.ebi.ac.uk/efo/EFO_0000359 |
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| comment |
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. A simple genetic disease that is caused by a rare autosomal recessive mutations in two DNA excision repair proteins, ERCC-8 and ERCC-6, and characterized by growth failure, impaired development of the nervous system, abnormal sensitivity to sunlight (photosensitivity), and premature aging. Caused by mutations of gene ERCC6. Caused by mutations of gene CKN1. 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. 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. |
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| alternative term |
Cokayne syndrome Type I Cockayne Syndrome cockayne syndrome Progeria-Like Syndromes Cockayne Syndrome, Group B Cockayne Syndrome, Group C Type III Cockayne Syndrome Cockayne Syndrome Type 3 Cockayne Syndrome, Type B Cockayne Syndrome, Type II Cockayne Syndrome Type C Group A Cockayne Syndrome Progeria-Like Syndrome Dwarfism-retinal atrophy-deafness syndrome Cockayne's syndrome Cockayne syndrome (disorder) Type A Cockayne Syndrome |
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| definition source |
GeneRIF:16246722 NCIt:C9460 SNOMEDCT:21086008 GeneRIF:12748643 DOID:2962 GeneRIF:11809892 MSH:D003057 GeneRIF:15082767 GeneRIF:12095617 |
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| label |
Cockayne syndrome |
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| prefixIRI |
efo:EFO_0000359 |
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| prefLabel |
Cockayne syndrome |
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| see also | ||
| term editor |
James Malone |
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| subClassOf |
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