Cockayne Syndrome malady
Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Ear diseases, Skin diseases, Fetal diseases, Cancer diseases
Aliases & Descriptions for Cockayne Syndrome:
Orphanet epidemiological data:51
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, Cancer diseases
Anatomical: Neuronal diseases, Eye diseases, Ear diseases, Skin diseases
ICD10: 28 27
Rare neurological diseases
Rare eye diseases
Rare otorhinolaryngological diseases
Rare skin diseases
Developmental anomalies during embryogenesis
NIH Rare Diseases:45 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 dwarfism-retinal atrophy-deafness syndrome, is related to cockayne syndrome type ii and cockayne syndrome type iii, and has symptoms including microcephaly, abnormality of the nose and macrotia. An important gene associated with Cockayne Syndrome is ERCC8 (Excision Repair Cross-Complementation Group 8), and among its related pathways are Cyclophosphamide Pathway, Pharmacodynamics and RNA Polymerase I Promoter Escape. Affiliated tissues include eye, brain and bone, and related mouse phenotypes are pigmentation and adipose tissue.
Disease Ontology:10 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:23 Cockayne syndrome is a rare disorder characterized by short stature and an appearance of premature aging. Features of this disorder include a failure to gain weight and grow at the expected rate (failure to thrive), abnormally small head size (microcephaly), and impaired development of the nervous system. Affected individuals have an extreme sensitivity to sunlight (photosensitivity), and even a small amount of sun exposure can cause a sunburn. Other possible signs and symptoms include hearing loss, eye abnormalities, severe tooth decay, bone abnormalities, and changes in the brain that can be seen on brain scans.
Wikipedia:68 Cockayne syndrome (CS), also called Neill-Dingwall syndrome, is a rare autosomal recessive... more...
GeneReviews summary for NBK1342
Symptoms:51 (show all 61)
HPO human phenotypes related to Cockayne Syndrome:(show all 52)
UMLS symptoms related to Cockayne Syndrome:hyperexplexia
FDA approved drugs:
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:33
Eye, Brain, Bone, Skin, Prostate, Breast, B cells
MGI Mouse Phenotypes related to Cockayne Syndrome:38 (show all 14)
Articles related to Cockayne Syndrome:(show top 50) (show all 380)
Search GEO for disease gene expression data for Cockayne Syndrome.
Pathways related to Cockayne Syndrome according to GeneCards Suite gene sharing:
Biological processes related to Cockayne Syndrome according to GeneCards Suite gene sharing:(show all 26)
Molecular functions related to Cockayne Syndrome according to GeneCards Suite gene sharing:
28ICD10 via Orphanet
37MESH via Orphanet
50OMIM via Orphanet
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
66UMLS via Orphanet