KEGG   DISEASE: Hypomyelination with brainstem and spinal cord involvement and leg spasticity
Entry
H02433                      Disease                                
Name
Hypomyelination with brainstem and spinal cord involvement and leg spasticity
Description
Hypomyelination with brainstem and spinal cord involvement and leg spasticity (HBSL) is characterized by focal cerebral white matter abnormalities and spinal cord signal abnormalities. HBSL is the result of mutations in DARS, a cytoplasmic tRNA synthetase gene.
Category
Inherited metabolic disorder
Brite
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Inborn errors of metabolism
    5C55  Inborn errors of purine, pyrimidine or nucleotide metabolism
     H02433  Hypomyelination with brainstem and spinal cord involvement and leg spasticity
Pathway
hsa00970  Aminoacyl-tRNA biosynthesis
Gene
DARS1 [HSA:1615] [KO:K22503]
Other DBs
ICD-11: 5C55.Y
OMIM: 615281
Reference
PMID:23643384
  Authors
Taft RJ, Vanderver A, Leventer RJ, Damiani SA, Simons C, Grimmond SM, Miller D, Schmidt J, Lockhart PJ, Pope K, Ru K, Crawford J, Rosser T, de Coo IF, Juneja M, Verma IC, Prabhakar P, Blaser S, Raiman J, Pouwels PJ, Bevova MR, Abbink TE, van der Knaap MS, Wolf NI
  Title
Mutations in DARS cause hypomyelination with brain stem and spinal cord involvement and leg spasticity.
  Journal
Am J Hum Genet 92:774-80 (2013)
DOI:10.1016/j.ajhg.2013.04.006
Reference
PMID:25684057
  Authors
Helman G, Van Haren K, Bonkowsky JL, Bernard G, Pizzino A, Braverman N, Suhr D, Patterson MC, Ali Fatemi S, Leonard J, van der Knaap MS, Back SA, Damiani S, Goldman SA, Takanohashi A, Petryniak M, Rowitch D, Messing A, Wrabetz L, Schiffmann R, Eichler F, Escolar ML, Vanderver A
  Title
Disease specific therapies in leukodystrophies and leukoencephalopathies.
  Journal
Mol Genet Metab 114:527-36 (2015)
DOI:10.1016/j.ymgme.2015.01.014
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