DISEASE: Spastic paraplegia, intellectual disability, nystagmus, and obesity
Entry
H02777 Disease
Name
Spastic paraplegia, intellectual disability, nystagmus, and obesity
Description
Spastic paraplegia, intellectual disability, nystagmus, and obesity (SINO) is a rare autosomal dominant disorder characterized by lower-limb hypertonia and weakness combined with obesity and intellectual disability. This disorder has recently been related to KIDINS220 mutation. KIDINS220 is a conserved scaffold protein that controls axonal and dendritic maturation.
Category
Nervous system disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
08 Diseases of the nervous system
Spinal cord disorders excluding trauma
8B44 Degenerative myelopathic disorders
H02777 Spastic paraplegia, intellectual disability, nystagmus, and obesity
Josifova DJ, Monroe GR, Tessadori F, de Graaff E, van der Zwaag B, Mehta SG, Harakalova M, Duran KJ, Savelberg SM, Nijman IJ, Jungbluth H, Hoogenraad CC, Bakkers J, Knoers NV, Firth HV, Beales PL, van Haaften G, van Haelst MM
Title
Heterozygous KIDINS220/ARMS nonsense variants cause spastic paraplegia, intellectual disability, nystagmus, and obesity.
