KEGG   DISEASE: Leukodystrophy and acquired microcephaly with or without dystonia
Entry
H02377                      Disease                                
Name
Leukodystrophy and acquired microcephaly with or without dystonia
Description
Leukodystrophy and acquired microcephaly with or without dystonia (LDAMD) is a syndrome caused by a mutation in PLEKHG2, that encodes RhoGEF protein. PLEKHG2 has an effect on the rearrangement of the actin cytoskeleton.
Category
Nervous system disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
 08 Diseases of the nervous system
  Multiple sclerosis or other white matter disorders
   8A44  Leukodystrophies
    H02377  Leukodystrophy and acquired microcephaly with or without dystonia
Gene
PLEKHG2 [HSA:64857] [KO:K23859]
Other DBs
ICD-11: 8A44.3
OMIM: 616763
Reference
PMID:26573021
  Authors
Edvardson S, Wang H, Dor T, Atawneh O, Yaacov B, Gartner J, Cinnamon Y, Chen S, Elpeleg O
  Title
Microcephaly-dystonia due to mutated PLEKHG2 with impaired actin polymerization.
  Journal
Neurogenetics 17:25-30 (2016)
DOI:10.1007/s10048-015-0464-y
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