Mitochondria Phenome Knowledgebase

Gene Symbol SPAST
Ensembl ID ENSG00000021574 Entrez 6683
Gene Alias ADPSP; FSP2; KIAA1083; SPG4 Subcellular Locations Microtubulus Mitochondria-related Nucleus
Map Position 2p24-p21 Subcell PMIDs 11309190 14681884 15210521
OMIM Gene 604277 Protein Complex
Swissprot ID Q9UBP0 Swissprot Description Spastin
OMIM Disease Autosomal dominant spastic paraplegia (SPG4) [182601]

Gene-Feature associations that are associated with 1 Gene

Gene OMIM Disease Phenotypic Feature Phenotype Annotation Clinical Category PMIDs
SPAST 182601 Musculoskeletal-diseases musculoskeletal #8931574 #10699187 #11015453 #11134375 #11723204 #11843700 #15197701 #15667412
SPAST 182601 Bone-diseases musculoskeletal #8931574 #10699187 #11015453 #11723204 #15667412
SPAST 182601 Spinal-diseases scoliosis; lower back pain; lumbar lordosis musculoskeletal 8931574 10699187 11015453 11723204 15667412
SPAST 182601 Foot-deformities pes cavus; pes planus; foot deformities; footdrop musculoskeletal 8931574 10699187 11015453 11134375 11843700 15197701
SPAST 182601 Joint-diseases musculoskeletal #11843700
SPAST 182601 Arthritis musculoskeletal 11843700
SPAST 182601 Digestive-system-diseases gastrointestinal #11015453 #11266693 #11723204 #11843700
SPAST 182601 Gastrointestinal-diseases faecal urgency; fecal incontinence; gastrointestinal complaints gastrointestinal 11015453 #11266693 11723204 11843700
SPAST 182601 Deglutition-disorders dysphagia gastrointestinal 11843700
SPAST 182601 Intestinal-obstruction severe constipation; ileus gastrointestinal 11266693 11723204
SPAST 182601 Abdominal-pain gastrointestinal 11723204
SPAST 182601 Nervous-system-diseases neurologic #8931574 #10610178 #10699187 #10980739 #11015453 #11134375 #11266693 #11309678 #11723204 #11843700 #12124993 #12163196 #12202986 #12552568 #15197701 #15210521 #15326248 #15667412
SPAST 182601 Central-nervous-system-diseases neurologic #11015453 #11266693 #11723204 #11843700 #12163196 #15210521 #15667412
SPAST 182601 Brain-diseases neurologic #11015453 #11266693 #11723204 #11843700 #15210521 #15667412
SPAST 182601 Cerebrovascular-disorders neurologic #11015453 #11266693 #15667412
SPAST 182601 Intracranial-hemorrhages cerebral hemorrhage; PET findings; positron emission tomography; cerebral blood flow decreased; cerebellum affected; cerebellum hemispheres affected neurologic 11015453 11266693 15667412
SPAST 182601 Seizures late onset seizures; atypical seizures; generalized epilepsy; epilepsy with absence; convulsions; tonic clonic seizures neurologic 11723204 11843700 15667412
SPAST 182601 Headache-disorders migraine neurologic 15667412
SPAST 182601 Leukoencephalopathy MRI findings; white matter abnormal; periventricular white matter abnormal; white matter lesions neurologic 11723204
SPAST 182601 Cerebellar-atrophy cerebellar atrophy; cerebellar vermis atrophy neurologic 15210521 15667412
SPAST 182601 Corpus-callosum-hypoplasia rare finding neurologic 15210521
SPAST 182601 Electroencephalogram-abnormal findings related to primary generalized epilepsia neurologic 15667412
SPAST 182601 Movement-disorders neurologic #12163196 #15667412
SPAST 182601 Dyskinesias dysdiadochokinesis; bilateral; dysmetria neurologic 12163196 15667412
SPAST 182601 Tremor intention tremor neurologic 15667412
SPAST 182601 Spinal-cord-diseases corticospinal tracts impaired; spinal cord involvement; myelin loss neurologic 11015453
SPAST 182601 Neuronal-loss-and-lesions MRI findings; signal intensity abnormalities; bilateral symmetric; white matter abnormal; periventricular white matter abnormal; white matter lesions neurologic 11723204
SPAST 182601 Neurodegenerative-diseases neurodegenerative disease; progressive neurologic 10610178 11015453 11309678 11723204 11843700 12124993 12202986 15210521 15667412
SPAST 182601 Axonal-degeneration Pathology findings; corticospinal tracts abnormal; myelin pallor; loss of axons; lateral corticospinal tracts abnormal; ventral corticospinal tracts abnormal neurologic 10610178 11015453
SPAST 182601 Neurologic-manifestations neurologic #8931574 #10610178 #10699187 #10980739 #11015453 #11134375 #11266693 #11309678 #11723204 #11843700 #12124993 #12163196 #12202986 #12552568 #15197701 #15210521 #15326248 #15667412
SPAST 182601 Neurogenic-bladder bladder sphincter disturbance; urinary hesitancy; urinary urgency neurologic 8931574 10699187 10980739 11015453 11843700 12124993 12163196 15197701 15326248 15667412
SPAST 182601 Ataxia upper extremities; limb ataxia; cerebellar ataxia neurologic 11723204 15667412
SPAST 182601 Myoclonus ankle clonus; nocturnal myoclonus; bilateral clonus neurologic 10699187 11134375 11266693 11723204 11843700 12124993 12202986 15197701 15667412
SPAST 182601 Gait-disorders gait problems; unsteadiness; spastic gait; problems running; paretic gait; scissors gait; balance impaired neurologic 10699187 10980739 11134375 11266693 11309678 11723204 11843700 12124993 12163196 12202986 15197701 15210521 15326248 15667412
SPAST 182601 Neurobehavioral-manifestations neurologic #8931574 #11015453 #11723204 #11843700 #15210521 #15667412
SPAST 182601 Speech-disorders neurologic #8931574 #11723204 #11843700 #15667412
SPAST 182601 Dysarthria slurring dysarthria neurologic 8931574 11723204 11843700 15667412
SPAST 182601 Memory-disorders memory impaired neurologic 11015453
SPAST 182601 Mental-retardation rare finding neurologic 8931574 15210521
SPAST 182601 Developmental-delay motor milestones delayed neurologic 15326248
SPAST 182601 Neuromuscular-manifestations neurologic #8931574 #10610178 #10699187 #10980739 #11015453 #11134375 #11266693 #11309678 #11723204 #11843700 #12124993 #12163196 #12202986 #12552568 #15197701 #15210521 #15326248 #15667412
SPAST 182601 Fasciculations neurologic 15197701
SPAST 182601 Muscle-hypertonia muscle tone increased; lower extremities neurologic 11134375 11723204 12202986 15197701 15326248
SPAST 182601 Muscle-spasticity spastic paraparesis; spastic paraplegia; lower limb spasticity; corticospinal tract dysfunction; atrophy; asymmetric spasticity; progressive neurologic 10610178 10699187 10980739 11015453 11134375 11266693 11309678 11723204 11843700 12124993 12163196 12202986 12552568 15197701 15210521 15326248 15667412
SPAST 182601 Muscle-weakness lower extremities; tibialis anterior weakness; gastrocnemius weakness; hamstring muscle weakness neurologic 8931574 10699187 11015453 11134375 11266693 11723204 11843700 12163196 12202986 12552568 15197701 15210521 15667412
SPAST 182601 Muscular-atrophy muscle wasting; lower extremities amyotrophy; amyotrophy; distal wasting neurologic 10699187 11015453 11134375 15197701 15667412
SPAST 182601 Paralysis-Paresis spastic paraparesis; spastic paraplegia; progressive neurologic 10610178 10699187 10980739 11015453 11134375 11266693 11309678 11723204 11843700 12124993 12163196 12202986 12552568 15197701 15326248 15667412
SPAST 182601 Reflexes-abnormal neurologic #8931574 #10699187 #10980739 #11015453 #11134375 #11266693 #11309678 #11723204 #11843700 #12124993 #12163196 #12202986 #12552568 #15197701 #15210521 #15326248 #15667412
SPAST 182601 Hyperreflexia brisk; lower extremities reflexes abnormal neurologic 8931574 10699187 10980739 11015453 11134375 11266693 11309678 11723204 11843700 12124993 12163196 12202986 12552568 15197701 15210521 15326248 15667412
SPAST 182601 Pyramidal-tract-signs extensor plantar response; babinski sign neurologic 8931574 10980739 11266693 11723204 11843700 12124993 12163196 12202986 15197701 15210521 15326248 15667412
SPAST 182601 Peripheral-nervous-system-diseases neurologic #8931574 #10699187 #11015453 #11134375 #11723204 #12163196 #15197701 #15210521 #15667412
SPAST 182601 Polyneuropathies polyneuropathy; sensorimotor neuropathy; sensory signs; painful paresthesias; sensory loss neurologic 11723204 15197701 15667412
SPAST 182601 Proprioception-impaired vibration impaired; lower extremities neurologic 8931574 10699187 11015453 11134375 11723204 12163196 15197701 15210521
SPAST 182601 Restless-legs-symptoms atypical symptoms such as restless legs neurologic 11843700
SPAST 182601 Eye-diseases ophthalmologic #8931574 #11723204 #11843700 #12163196 #15667412
SPAST 182601 Ocular-motility-disorders ophthalmologic #8931574 #11843700 #12163196 #15667412
SPAST 182601 Pathologic-nystagmus horizontal nystagmus ophthalmologic 11843700 12163196 15667412
SPAST 182601 Ophthalmoplegia rare finding ophthalmologic 8931574
SPAST 182601 Vision-disorders rapid onset of visual disturbance; visual acuity impaired; hemianopia ophthalmologic 11723204
SPAST 182601 Color-vision-defects dyschromatopsia; colour vision impaired ophthalmologic 11723204
SPAST 182601 Genitourinary-diseases genitourinary #8931574 #10699187 #10980739 #11134375 #11723204 #15197701 #15667412
SPAST 182601 Urologic-diseases genitourinary #8931574 #10699187 #10980739 #11134375 #11723204 #15197701 #15667412
SPAST 182601 Urination-disorders urgency; urge incontinence; incontinence; nocturia; urinary incontinence genitourinary 8931574 10699187 10980739 11134375 11723204 15197701 15667412
SPAST 182601 Immune-system-diseases multiple sclerosis; oligoclonal immunoglobulin bands; CSF oligoclonal bands; absent in serum immunologic 11723204
SPAST 182601 Psychiatric-disorders psychiatric symptoms; psychiatric morbidity psychiatric #11015453 #11134375 11723204 #11843700 15197701 #15667412
SPAST 182601 Mental-disorders psychiatric #11015453 #11134375 #11723204 #11843700 #15197701 #15667412
SPAST 182601 Anxiety-disorders anxiety; anxiety depression psychiatric 11723204 15667412
SPAST 182601 Dementia progressive; cognitive decline; memory impaired; memory loss; learning impaired; cognitive impairment psychiatric 11015453 11134375 11843700 15667412
SPAST 182601 Mood-disorders mood problems psychiatric 11015453 #11723204 #11843700 #15197701 #15667412
SPAST 182601 Depressive-disorder depression psychiatric 11723204 11843700 15197701 15667412
SPAST 182601 Borderline-personality-disorder emotionally unstable; borderline personality psychiatric 15667412
SPAST 182601 Creatine-kinase-abnormal elevated; mildly miscellaneous 15326248

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