Spastic Paraplegia 3, Autosomal Dominant (SPG3A)

Alias:
Hereditary Spastic Paraplegia 3a
Strumpell Disease
Spg3a
Autosomal Dominant Spastic Paraplegia Type 3
Fsp1
Spg3
Familial Spastic Paraplegia, Autosomal Dominant, 1
Autosomal Dominant Familial Spastic Paraplegia 1
Familial Spastic Paraplegia Autosomal Dominant 1
Paraplegia, Spastic, Autosomal Dominant, Type 3a
Spastic Paraplegia 3a, Autosomal Dominant
Autosomal Dominant Spastic Paraplegia 3
Spastic Paraplegia, Hereditary
Strumpell-Lorrain Syndrome
Strümpell Disease
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Spastic Paraplegia 3, Autosomal Dominant, also known as hereditary spastic paraplegia 3a, is related to neuropathy, hereditary sensory, type id and spastic paraplegia 80, autosomal dominant, and has symptoms including leg cramps, pain in lower limb and urgency of micturition. An important gene associated with Spastic Paraplegia 3, Autosomal Dominant is ATL1 (Atlastin GTPase 1). The drugs Acetylcholine and Cholinergic Agents have been mentioned in the context of this disorder. Affiliated tissues include spinal cord and bone marrow, and related phenotypes are babinski sign and distal lower limb muscle weakness
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Child
1-9/1000000
8
47
98

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Function
Score
Mutations
No data available

Related Drugs

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CAS Number
Status
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No data available

Disease Model

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Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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