Ontology Browser

Term:
hereditary spastic paraplegia (DOID:2476)
Annotations: Rat: (121) Mouse: (121) Human: (127) Chinchilla: (119) Bonobo: (121) Dog: (120) Squirrel: (120)
Parent Terms Term With Siblings Child Terms
paraplegia +     
Alstrom syndrome  
Brown-Sequard syndrome 
Cardioneuromyopathy with Hyaline Masses and Nemaline Rods 
Charcot-Marie-Tooth disease +   
Congenital Anterior Cervical Hypertrichosis with Peripheral Sensory and Motor Neuropathy 
Distal Hereditary Motor Neuropathy, Type VIIA  
Fryns Macrocephaly 
Giant Axonal Neuropathy +   
Hagemoser Weinstein Bresnick Syndrome 
Hereditary Essential Tremor, 2  
Hereditary Motor and Sensory Neuropathy with Excessive Myelin Folding Complex, Autosomal Recessive 
Hereditary Motor and Sensory Neuropathy, Okinawa Type  
hereditary neuropathy with liability to pressure palsies  
Hereditary Sensorimotor Neuropathy with Upper Motor Neuron, Visual Pathway and Autonomic Disturbance 
Hereditary Sensory Neuropathy with Spastic Paraplegia, Autosomal Recessive  
hereditary spastic paraplegia +   
A group of inherited diseases that share similar phenotypes but are genetically diverse. Different genetic loci for autosomal recessive, autosomal dominant, and x-linked forms of hereditary spastic paraplegia have been identified. Clinically, patients present with slowly progressive distal limb weakness and lower extremity spasticity. Peripheral sensory neurons may be affected in the later stages of the disease. (J Neurol Neurosurg Psychiatry 1998 Jan;64(1):61-6; Curr Opin Neurol 1997 Aug;10(4):313-8)
Hypomyelination with Brainstem and Spinal Cord Involvement and Leg Spasticity  
Mental Retardation with Spastic Paraplegia 
Neuropathy, Hereditary Thermosensitive 
Optic Atrophy Spastic Paraplegia Syndrome 
Polyneuropathy, Lethal Neonatal, Axonal Sensorimotor, Autosomal Recessive 
Refsum disease +   
Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis  
Slowed Nerve Conduction Velocity, Autosomal Dominant  
Spastic Paraplegia, Ataxia, and Mental Retardation 
SPOAN syndrome  
Tamari Goodman Syndrome 

Synonyms
Exact Synonyms: CMT with Pyramidal Features ;   Charcot Marie Tooth Disease with Pyramidal Features, Autosomal Dominant ;   French settlement disease ;   HMSN 5 ;   HMSN Type V ;   HMSN V ;   HMSN V (Hereditary Motor and Sensory Neuropathy Type V) ;   Hereditary Motor And Sensory Neuropathy V ;   Hereditary Motor Sensory Neuropathy with Pyramidal Signs ;   Hereditary Motor and Sensory Neuropathy 5 ;   Hereditary Spastic Paraplegias ;   Hereditary X Linked Recessive Spastic Paraplegia ;   Hypertrophic Motor Sensory Neuropathy Spastic Paraplegia ;   Peroneal Muscular Atrophy with Pyramidal Features, Autosomal Dominant ;   Strumpell-Lorrain disease ;   familial spastic paraplegia ;   hereditary spastic paraparesis ;   type V hereditary motor and sensory neuropathy
Narrow Synonyms: Autosomal Dominant Hereditary Spastic Paraplegia ;   Autosomal Recessive Hereditary Spastic Paraplegia ;   Dominant Spastic Paraplegia ;   PURE OR COMPLEX AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA ;   Recessive Spastic Paraplegia ;   X-linked hereditary spastic paraplegia
Primary IDs: MESH:D015419
Alternate IDs: RDO:0000354
Xrefs: GARD:6637 ;   OMIM:PS303350
Definition Sources: MESH:D015419, http://en.wikipedia.org/wiki/Familial_spastic_paraplegia

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.