IDUA, alpha-L-iduronidase, 3425

N. diseases: 258; N. variants: 110
Disease: Hurler-Scheie Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0086431
Disease: Hurler-Scheie Syndrome
Hurler-Scheie Syndrome 		0.770 CausalMutation disease CLINVAR Worldwide distribution of common IDUA pathogenic variants. 29393969 2018
CUI: C0086431
Disease: Hurler-Scheie Syndrome
Hurler-Scheie Syndrome 		0.770 GeneticVariation disease BEFREE We report on novel mutations of the IDUA gene in one patient with the Scheie syndrome and in three patients with the Hurler/Scheie syndrome. 7550232 1995
CUI: C0086431
Disease: Hurler-Scheie Syndrome
Hurler-Scheie Syndrome 		0.770 Therapeutic disease CTD_human Correction of metabolic, craniofacial, and neurologic abnormalities in MPS I mice treated at birth with adeno-associated virus vector transducing the human alpha-L-iduronidase gene. 15194053 2004
CUI: C0086431
Disease: Hurler-Scheie Syndrome
Hurler-Scheie Syndrome 		0.770 CausalMutation disease CLINVAR A common mutation for mucopolysaccharidosis type I associated with a severe Hurler syndrome phenotype. 1301196 1992
CUI: C0086431
Disease: Hurler-Scheie Syndrome
Hurler-Scheie Syndrome 		0.770 Therapeutic disease CTD_human Gentamicin-mediated suppression of Hurler syndrome stop mutations restores a low level of alpha-L-iduronidase activity and reduces lysosomal glycosaminoglycan accumulation. 11159948 2001
CUI: C0086431
Disease: Hurler-Scheie Syndrome
Hurler-Scheie Syndrome 		0.770 CausalMutation disease CLINVAR alpha-L-iduronidase mutations (Q70X and P533R) associate with a severe Hurler phenotype. 1301941 1992
CUI: C0086431
Disease: Hurler-Scheie Syndrome
Hurler-Scheie Syndrome 		0.770 GeneticVariation disease UNIPROT IDUA mutational profiling of a cohort of 102 European patients with mucopolysaccharidosis type I: identification and characterization of 35 novel α-L-iduronidase (IDUA) alleles. 21394825 2011
CUI: C0086431
Disease: Hurler-Scheie Syndrome
Hurler-Scheie Syndrome 		0.770 GeneticVariation disease UNIPROT Identification and characterization of -3c-g acceptor splice site mutation in human alpha-L-iduronidase associated with mucopolysaccharidosis type IH/S. 10735634 2000
CUI: C0086431
Disease: Hurler-Scheie Syndrome
Hurler-Scheie Syndrome 		0.770 Biomarker disease BEFREE This review will focus on the recent outcomes and planned viral vector-mediated gene therapy clinical trials, and the pre-clinical data that supported these studies, for MPS-I (Hurler/Scheie syndrome), MPS-II (Hunter syndrome), and MPS-IIIA and -IIIB (Sanfilippo syndrome). 28660346 2017
CUI: C0086431
Disease: Hurler-Scheie Syndrome
Hurler-Scheie Syndrome 		0.770 Biomarker disease CTD_human alpha-L-iduronidase premature stop codons and potential read-through in mucopolysaccharidosis type I patients. 15081804 2004
CUI: C0086431
Disease: Hurler-Scheie Syndrome
Hurler-Scheie Syndrome 		0.770 GeneticVariation disease UNIPROT We report on novel mutations of the IDUA gene in one patient with the Scheie syndrome and in three patients with the Hurler/Scheie syndrome. 7550232 1995