Disase Detail : MGeND

Information

Disease name: Cockayne syndrome
Disease ID: DOID:2962
Description: "A syndrome that is 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." [url:http\://en.wikipedia.org/wiki/Cockayne_syndrome, url:https\://medlineplus.gov/genetics/condition/cockayne-syndrome/, url:https\://www.ncbi.nlm.nih.gov/books/NBK1342/]

Disease area statistics

Chromosome band

Gene symbol	Chromosome	Start	Stop	The number of variant
ERCC4	16	13,920,154	13,952,348	12
ERCC1	19	45,413,434	45,423,566	4

Annotation

Genes	Mutation	Description	Source	Links

NCT ID	Status	Phase	Summary	Start date	Completion date
NCT00001813	Active, not recruiting		Examination of Clinical and Laboratory Abnormalities in Patients With Defective DNA Repair: Xeroderma Pigmentosum, Cockayne Syndrome, or Trichothiodystrophy	May 10, 1999
NCT02699190	Active, not recruiting		LeukoSEQ: Whole Genome Sequencing as a First-Line Diagnostic Tool for Leukodystrophies	January 6, 2017	December 2024
NCT01142154	Completed	Phase 1/Phase 2	Pharmacokinetics and Safety Study of Single and Multiple Oral Doses Prodarsan™ in Patients With Cockayne Syndrome	June 2010	February 2011
NCT01793168	Recruiting		Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford	July 2010	December 2100
NCT05484570	Recruiting		Natural History Study for DNA Repair Disorders	October 1, 2022	August 2025
NCT03044210	Recruiting	N/A	Metabolic Study of Cockayne Syndrome	April 4, 2017	April 2024
NCT03047369	Recruiting		The Myelin Disorders Biorepository Project	December 8, 2016	December 8, 2030
NCT00985413	Terminated		Observational Study to Assess Natural History in Cockayne Syndrome Patients	September 2009	February 2011

Cockayne syndrome