Disease: CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1839566
Disease: CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5
CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5 		0.740 GeneticVariation disease BEFREE New PRPS1 variant p.(Met68Leu) located in the dimerization area identified in a French CMTX5 patient. 31338985 2019
CUI: C1839566
Disease: CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5
CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5 		0.740 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C1839566
Disease: CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5
CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5 		0.740 Biomarker disease BEFREE Mild PRS-I deficiency (DFNX-2) results in non-syndromic progressive hearing loss whereas moderate PRS-I deficiency (CMTX5) and severe PRS-I deficiency (Arts syndrome) present with peripheral or optic neuropathy, prelingual progressive sensorineural hearing loss, and central nervous system impairment. 26089585 2015
CUI: C1839566
Disease: CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5
CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5 		0.740 CausalMutation disease CLINVAR The expanding spectrum of PRPS1-associated phenotypes: three novel mutations segregating with X-linked hearing loss and mild peripheral neuropathy. 25182139 2015
CUI: C1839566
Disease: CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5
CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5 		0.740 GeneticVariation disease BEFREE X-linked Charcot-Marie-Tooth disease type 5 (CMTX5), Arts syndrome, and non-syndromic sensorineural deafness (DFN2) are allelic syndromes, caused by reduced activity of phosphoribosylpyrophosphate synthetase 1 (PRS-I) due to loss-of-function mutations in PRPS1. 24528855 2014
CUI: C1839566
Disease: CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5
CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5 		0.740 Biomarker disease GENOMICS_ENGLAND Genome sequencing identifies major causes of severe intellectual disability. 24896178 2014
CUI: C1839566
Disease: CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5
CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5 		0.740 Biomarker disease GENOMICS_ENGLAND Exome Sequencing Reveals a Novel PRPS1 Mutation in a Family with CMTX5 without Optic Atrophy. 24285972 2013
CUI: C1839566
Disease: CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5
CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5 		0.740 GeneticVariation disease BEFREE Gain of function mutations in PRPS1 cause a superactivity of the PRS-I protein whereas the loss-of-function mutations result in X-linked nonsyndromic sensorineural deafness type 2 (DFN2), or in syndromic deafness including Arts syndrome and X-linked Charcot-Marie-Tooth disease-5 (CMTX5). 23190330 2013
CUI: C1839566
Disease: CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5
CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5 		0.740 Biomarker disease GENOMICS_ENGLAND The mutations identified were E43D, in patients with Rosenberg-Chutorian syndrome, and M115T, in the Korean patients with CMTX5. 17701900 2007
CUI: C1839566
Disease: CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5
CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5 		0.740 GeneticVariation disease UNIPROT The mutations identified were E43D, in patients with Rosenberg-Chutorian syndrome, and M115T, in the Korean patients with CMTX5. 17701900 2007
CUI: C1839566
Disease: CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5
CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5 		0.740 Biomarker disease GENOMICS_ENGLAND Mapping of DFN2 to Xq22. 8968763 1996
CUI: C1839566
Disease: CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5
CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5 		0.740 Biomarker disease GENOMICS_ENGLAND X-linked ataxia, weakness, deafness, and loss of vision in early childhood with a fatal course. 8498830 1993
CUI: C1839566
Disease: CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5
CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5 		0.740 Biomarker disease CTD_human