LMNB1, lamin B1, 4001

N. diseases: 128; N. variants: 1
Disease: Dysautonomia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0013363
Disease: Dysautonomia
Dysautonomia 		0.020 GeneticVariation disease BEFREE The first, autosomal dominant leukodystrophy, is characterized clinically by early autonomic dysfunction and genetically by LMNB1 (lamin B1 gene) duplication. 24128683 2013
CUI: C0013363
Disease: Dysautonomia
Dysautonomia 		0.020 GeneticVariation disease BEFREE LMNB1 gene duplication appears characteristic of a subset of adult-onset autosomal dominant leucoencephalopathies, sharing autonomic dysfunction at onset, diffuse T2-hyperintensity of supra- and infratentorial white matter, sparing of U-fibres and optic radiations. 19151023 2009