Disease Index

human disease

hereditary sensory neuropathy characterized by congenital insensitivity to pain and decreased sweating and tear production that has material basis in homozygous mutation in the PRDM12 gene on chromosome 9q34

medical condition

This syndrome is characterized by a sensory and autonomic axonal neuropathy, sensorineural hearing loss and persistent global developmental delay

This syndrome is characterized by the association of an axonal sensory and autonomic neuropathy with spastic paraplegia

hereditary sensory neuropathy characterized by axonal neuropathy with distal sensory impairment, cough, and gastroesophageal reflux that has material basis in variation in the chromosome region 3p24-p22

hereditary sensory neuropathy characterized by adult onset of progressive peripheral sensory loss, progressive hearing impairment, and early-onset dementia that has material basis in heterozygous mutation in the DNMT1 gene on chromosome 19p13

human disease

human disease

genetically and clinically heterogeneous group of neurodegenerative disorders characterized by progressive spasticity and hyperreflexia of the lower limbs

hereditary spastic paraplegia that has material basis in mutation in the KIF5A gene on chromosome 12q13

hereditary spastic paraplegia that has material basis in mutation in the SPG11 gene on chromosome 15q21

hereditary spastic paraplegia that has material basis in mutation in the RTN2 gene on chromosome 19q13

hereditary spastic paraplegia that is characterized by a pure form of the disease with late onset and has material basis in mutation in the HSPD1 on chromosome 2q33

hereditary spastic paraplegia that has material basis in variation in the chromosome region 3q27-q28

hereditary spastic paraplegia that has material basis in mutation in the ZFYVE26 gene on chromosome 14q24.1

hereditary spastic paraplegia that has material basis in variation in the chromosome region Xq11.2

hereditary spastic paraplegia that has material basis in mutation in the BSCL2 gene on chromosome 11q12

gene (8p11.2) encoding the protein, Erlin-2.

hereditary spastic paraplegia that has material basis in variation in the chromosome region 9q

hereditary spastic paraplegia that has material basis in mutation in the PLP1 gene on chromosome Xq22.2

hereditary spastic paraplegia that has material basis in variation in the chromosome region 1q24-q32

hereditary spastic paraplegia that has material basis in variation in the chromosome region 13q14

hereditary spastic paraplegia that has material basis in variation in the chromosome region 6q23-q24.1

gene (12q13.3), encoding Beta-1, 4 N-acetylgalactosaminyltransferase 1.

hereditary spastic paraplegia that has material basis in variation in the chromosome region 10q22.1-q24.1

hereditary spastic paraplegia that has material basis in mutation in the DDHD1 gene on chromosome 14q22

hereditary spastic paraplegia that has material basis in variation in the chromosome region 1p31.1-p21.1

hereditary spastic paraplegia that has material basis in mutation in the KIF1A gene on chromosome 2q37

30 years). In some cases, it can present as a complex phenotype with additional associated manifestations including peripheral neuropathy, bulbar palsy (with dysarthria and dysphagia), distal amyotrophy, and impaired distal vibration sense.