Disase Detail : MGeND

Information

Disease name: Zellweger syndrome
Disease ID: DOID:905
Description: "A peroxisomal biogenesis disorder that is characterized by severe neurologic dysfunction, craniofacial abnormalities, and liver dysfunction, and biochemically by the absence of peroxisome and that has_material_basis_in autosomal recessive inheritance of a mutation in the peroxisome biogenesis factor (PEX) genes." [url:http\://en.wikipedia.org/wiki/Zellweger_Syndrome, url:http\://www.ninds.nih.gov/disorders/zellweger/zellweger.htm, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=912]

Disease area statistics

Chromosome band

Gene symbol	Chromosome	Start	Stop	The number of variant
PEX2	8	76,980,258	77,000,078	8

Annotation

Genes	Mutation	Description	Source	Links

NCT ID	Status	Phase	Summary	Start date	Completion date
NCT02699190	Active, not recruiting		LeukoSEQ: Whole Genome Sequencing as a First-Line Diagnostic Tool for Leukodystrophies	January 6, 2017	December 2024
NCT00007020	Completed	Phase 3	Compassionate Treatment of Patients With Inborn Errors of Bile Acid Metabolism With Cholic Acid	January 1992	December 2009
NCT03856866	Completed	Phase 2	Hydroxychloroquine Administration for Reduction of Pexophagy	January 11, 2019	May 5, 2020
NCT02171104	Recruiting	Phase 2	MT2013-31: Allo HCT for Metabolic Disorders and Severe Osteopetrosis	July 10, 2014	July 14, 2028
NCT03047369	Recruiting		The Myelin Disorders Biorepository Project	December 8, 2016	December 8, 2030
NCT00004442	Terminated	N/A	Study of Bile Acids in Patients With Peroxisomal Disorders		April 1999

Zellweger syndrome