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Details on Person hereditary spastic paraplegia

Class:IdDisease:5602229
_displayNamehereditary spastic paraplegia
_timestamp2014-06-20 14:39:20
created[InstanceEdit:5602246] Jassal, Bijay, 2014-06-20
definitionA paraplegia that is characterized by progressive stiffness and contraction (spasticity) in the lower limbs.
identifier2476
namehereditary spastic paraplegia
referenceDatabase[ReferenceDatabase:1247631] DOID
synonymHereditary spastic paraplegia
Hereditary spastic paraplegia
Hereditary spastic paraplegia (disorder)
Hereditary spastic paraplegia
familial spastic paraplegia
HSMN V
(disease)[Pathway:5579011] Defective CYP2U1 causes SPG56 [Homo sapiens]
[Pathway:5579013] Defective CYP7B1 causes SPG5A and CBAS3 [Homo sapiens]
[FailedReaction:5602242] Defective CYP2U1 does not omega-hydroxylate ARA [Homo sapiens]
[FailedReaction:5602885] Defective CYP7B1 does not 7-hydroxylate 25OH-CHOL [Homo sapiens]
[Pathway:5619061] Defective SLC33A1 causes spastic paraplegia 42 (SPG42) [Homo sapiens]
[FailedReaction:5649742] Defective SLC33A1 does not transport Ac-CoA from cytosol to Golgi lumen [Homo sapiens]
[DefinedSet:5602201] CYP2U1 mutants [endoplasmic reticulum membrane] [Homo sapiens]
[EntityWithAccessionedSequence:5602212] CYP2U1 E380G [endoplasmic reticulum membrane] [Homo sapiens]
[EntityWithAccessionedSequence:5602217] CYP2U1 D316V [endoplasmic reticulum membrane] [Homo sapiens]
[EntityWithAccessionedSequence:5602238] CYP2U1 R488W [endoplasmic reticulum membrane] [Homo sapiens]
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No pathways have been reviewed or authored by hereditary spastic paraplegia (5602229)