PRX, periaxin, 57716

N. diseases: 75; N. variants: 21
Disease: Peripheral demyelinating neuropathy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0270922
Disease: Peripheral demyelinating neuropathy
Peripheral demyelinating neuropathy 		0.140 Biomarker disease BEFREE Mutations that truncate periaxin from the C terminus cause demyelinating peripheral neuropathy, Charcot-Marie-Tooth (CMT) disease type 4F, indicating a function for the periaxin C-terminal region in myelination. 31024253 2019
CUI: C0270922
Disease: Peripheral demyelinating neuropathy
Peripheral demyelinating neuropathy 		0.140 CausalMutation disease CLINVAR The use of whole-exome sequencing to disentangle complex phenotypes. 26059842 2016
CUI: C0270922
Disease: Peripheral demyelinating neuropathy
Peripheral demyelinating neuropathy 		0.140 CausalMutation disease CLINVAR Late-onset Charcot-Marie-Tooth disease 4F caused by periaxin gene mutation. 22847150 2012
CUI: C0270922
Disease: Peripheral demyelinating neuropathy
Peripheral demyelinating neuropathy 		0.140 CausalMutation disease CLINVAR Four novel cases of periaxin-related neuropathy and review of the literature. 21079185 2010
CUI: C0270922
Disease: Peripheral demyelinating neuropathy
Peripheral demyelinating neuropathy 		0.140 GeneticVariation disease BEFREE Mutations in the periaxin (PRX) gene cause autosomal recessive demyelinating neuropathy Charcot-Marie-Tooth (CMT) type 4F. 18410371 2008
CUI: C0270922
Disease: Peripheral demyelinating neuropathy
Peripheral demyelinating neuropathy 		0.140 CausalMutation disease CLINVAR Periaxin mutation causes early-onset but slow-progressive Charcot-Marie-Tooth disease. 15197604 2004
CUI: C0270922
Disease: Peripheral demyelinating neuropathy
Peripheral demyelinating neuropathy 		0.140 Biomarker disease BEFREE Two themes dominated the literature on demyelinating neuropathies in the past 2 years: (1) the dissection of the localization and roles of new molecules in the axon-Schwann cell unit, including periaxin and connexin32, which are mutated in specific heritable neuropathies; (2) the recognition of the range of phenotypes associated with individual genetic abnormalities, so that the same defects can even produce both demyelinating and axonal forms of heritable neuropathies. 12858066 2003
CUI: C0270922
Disease: Peripheral demyelinating neuropathy
Peripheral demyelinating neuropathy 		0.140 Biomarker disease BEFREE Although periaxin-null mice myelinate normally, they develop a demyelinating peripheral neuropathy later in life. 12090399 2002
CUI: C0270922
Disease: Peripheral demyelinating neuropathy
Peripheral demyelinating neuropathy 		0.140 CausalMutation disease CLINVAR A mutation in periaxin is responsible for CMT4F, an autosomal recessive form of Charcot-Marie-Tooth disease. 11157804 2001