Cockayne Syndrome malady
Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Ear diseases, Skin diseases, Fetal diseases
Aliases & Descriptions for Cockayne Syndrome:
Orphanet epidemiological data:52
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: All ages; Age of death: any age
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Neuronal diseases, Eye diseases, Ear diseases, Skin diseases
ICD10: 29 28
Rare neurological diseases
Rare eye diseases
Rare otorhinolaryngological diseases
Rare skin diseases
Developmental anomalies during embryogenesis
NIH Rare Diseases:46 Cockayne syndrome is a rare condition which causes short stature, premature aging (progeria), severe photosensitivity, and moderate to severe learning delay. this syndrome also includes failure to thrive in the newborn, microcephaly, and impaired nervous system development. other symptoms may include hearing loss, tooth decay, and eye and bone abnormalities. cockayne syndrome type 1 (type a) is sometimes called “classic” or "moderate" cockayne syndrome and is diagnosed during early childhood. cockayne syndrome type 2 (type b) is sometimes referred to as the “severe” or "early-onset" type. this more severe form presents with growth and developmental abnormalities at birth. the third type, cockayne syndrome type 3 (type c) is a milder form of the disorder. cockayne syndrome is caused by mutations in either the ercc8 (csa) or ercc6 (csb) genes and is inherited in an autosomal recessive pattern. the typical lifespan for individuals with cockayne syndrome type 1 is ten to twenty years. individuals with type 2 usually do not survive past childhood. those with type 3 live into middle adulthood. last updated: 10/26/2015
MalaCards based summary: Cockayne Syndrome, also known as cockayne's syndrome, is related to cockayne syndrome type iii and xeroderma pigmentosum, group b, and has symptoms including microcephaly, abnormality of the nose and macrotia. An important gene associated with Cockayne Syndrome is ERCC8 (ERCC Excision Repair 8, CSA Ubiquitin Ligase Complex Subunit), and among its related pathways are Cyclophosphamide Pathway, Pharmacodynamics and RNA Polymerase I Promoter Escape. Affiliated tissues include eye, skin and brain, and related mouse phenotypes are liver/biliary system and vision/eye.
Disease Ontology:11 An autosomal recessive disease that is caused by rare 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.
Genetics Home Reference:24 Cockayne syndrome is a rare disorder characterized by an abnormally small head size (microcephaly), a failure to gain weight and grow at the expected rate (failure to thrive) leading to very short stature, and delayed development. The signs and symptoms of this condition are usually apparent from infancy, and they worsen over time. Most affected individuals have an increased sensitivity to sunlight (photosensitivity), and in some cases even a small amount of sun exposure can cause a sunburn or blistering of the skin. Other signs and symptoms often include hearing loss, vision loss, severe tooth decay, bone abnormalities, hands and feet that are cold all the time, and changes in the brain that can be seen on brain scans.
Wikipedia:69 Cockayne syndrome (CS), also called Neill-Dingwall syndrome, is a rare fatal autosomal recessive... more...
GeneReviews summary for NBK1342
Symptoms:52 (show all 62)
HPO human phenotypes related to Cockayne Syndrome:(show all 52)
UMLS symptoms related to Cockayne Syndrome:hyperexplexia
Drugs for Cockayne Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):
Interventional clinical trials:
Search NIH Clinical Center for Cockayne Syndrome
MalaCards organs/tissues related to Cockayne Syndrome:34
Eye, Skin, Brain, Bone, B cells, Breast, Kidney
MGI Mouse Phenotypes related to Cockayne Syndrome:39 (show all 11)
Articles related to Cockayne Syndrome:(show top 50) (show all 384)
Search GEO for disease gene expression data for Cockayne Syndrome.
Pathways related to Cockayne Syndrome according to GeneCards Suite gene sharing:
Cellular components related to Cockayne Syndrome according to GeneCards Suite gene sharing:(show all 12)
Biological processes related to Cockayne Syndrome according to GeneCards Suite gene sharing:(show all 32)
Molecular functions related to Cockayne Syndrome according to GeneCards Suite gene sharing:(show all 14)
29ICD10 via Orphanet
38MESH via Orphanet
51OMIM via Orphanet
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
67UMLS via Orphanet