Spastic Paraplegia 7, Autosomal Recessive (SPG7)

Alias:
Spastic Paraplegia Type 7
Spg7
Hereditary Spastic Paraplegia 7
Hereditary Spastic Paraplegia, Paraplegin Type
Spastic Paraplegia 7
Autosomal Recessive Hereditary Spastic Paraplegia
Paraplegia, Spastic, Autosomal Recessive, Type 7
Autosomal Recessive Spastic Paraplegia 7
Spastic Paraplegia, Hereditary
Spastic Paraplegia-7
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Spastic Paraplegia 7, Autosomal Recessive, also known as spastic paraplegia type 7, is related to optic atrophy 9 and spinocerebellar ataxia, autosomal recessive 14, and has symptoms including leg cramps, pain in lower limb and urgency of micturition. An important gene associated with Spastic Paraplegia 7, Autosomal Recessive is SPG7 (SPG7 Matrix AAA Peptidase Subunit, Paraplegin), and among its related pathways/superpathways are Transport of inorganic cations/anions and amino acids/oligopeptides and Mitochondrial calcium ion transport. The drugs Acetylcholine and Cholinergic Agents have been mentioned in the context of this disorder. Affiliated tissues include spinal cord and eye, and related phenotypes are spastic gait and abnormal pyramidal sign
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Child
--
22
108
92

Medical Symptom

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Gene & Mutation

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References Literature

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