2 results for nipa1
Disease
Source: DOID:0110811
Definition: A hereditary spastic paraplegia that is usually characterized by rapidly progressive and severe spastic paraplegia and has_material_basis_in mutation in the NIPA1 gene on chromosome 15q11.2.
Genes: nipa1 (Xtr)...NIPA1 (Hsa)...Nipa1 (Mmu)...Nipa1 (Rno)...nipa1 (Dre)

Source: DOID:2476
Definition: A paraplegia that is characterized by progressive stiffness and contraction (spasticity) in the lower limbs.
Genes: Nipa1 (Mmu)...NIPA1 (Hsa)...nipa1 (Xtr)...Nipa1 (Rno)...nipa1 (Dre)