PedAM
Pediatric Disease Annotations & Medicines
| Disease | leukoencephalopathy with vanishing white matter |
| Phenotype | C0270612|leukoencephalopathy |
| Sentences | 8 |
| PubMedID- 26285592 | leukoencephalopathy with vanishing white matter (vwm; also known as childhood ataxia with central nervous system hypomyelination (cach)) is an autosomal recessive neurological disorder with variable features including progressive cerebellar ataxia, spasticity and cognitive impairment [1]. |
| PubMedID- 21722374 | Mutations in each of the five subunits of the translation initiation factor eif2b, including eif2a encoded by eif2b1 [ensembl:enscafg00000007434], can cause leukoencephalopathy with vanishing white matter (vwm, [omim:603896]) [17]. |
| PubMedID- 20444979 | In addition, mutations in all five eif2b subunits have been identified as linked to the human inherited disorder leukoencephalopathy with vanishing white matter (vwm) or childhood ataxia with central hypomyelination (cach; scali et al., 2006). |
| PubMedID- 24027754 | Callosal demyelination is observed in many neurometabolic diseases, for example, in globoid leukodystrophy (krabbe disease) (figure 13), metachromatic leukodystrophy, leukoencephalopathy with vanishing white matter (figure 14), and mitochondrial diseases (figure 15). |
| PubMedID- 25689268 | 5 offers the disease proteins of leukoencephalopathy with vanishing white matter and their interactions in the protein interaction network constructed based on the i2d database. |
| PubMedID- 24811713 | They also provide insightsinto the molecular basis of a number of mutations in human eif2b thatcause leukoencephalopathy with vanishing white matter. |
| PubMedID- 25761052 | leukoencephalopathy with vanishing white matter (vwm, omim306896) is one of the most prevalent inherited leukoencephalopathies in children [1,2]. |
| PubMedID- 24412566 | Interestingly these diseases also lead to tissue specific clinical presentations mainly affecting brain, spinal cord and peripheral neurons, illustrated by clinical presentations such as charcot–marie–tooth disease (cmt), distal hereditary motor neuropathies (dhmn) or leukoencephalopathy with vanishing white matter (vwm). |
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