Spastic Paraplegia 73, Autosomal Dominant (SPG73)

Alias:
Hereditary Spastic Paraplegia 73
Spg73
Autosomal Dominant Spastic Paraplegia Type 73
Paraplegia, Spastic, Autosomal Dominant, Type 73
Autosomal Dominant Spastic Paraplegia 73
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Spastic Paraplegia 73, Autosomal Dominant, also known as hereditary spastic paraplegia 73, is related to neuropathy, hereditary sensory, type id and spastic paraplegia 6, autosomal dominant. An important gene associated with Spastic Paraplegia 73, Autosomal Dominant is CPT1C (Carnitine Palmitoyltransferase 1C). Affiliated tissues include brain and skeletal muscle, and related phenotypes are hyperreflexia and babinski sign
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Adult
<1/1000000
13
75
5

Medical Symptom

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

Gene & Mutation

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Gene
Function
Score
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
Journal
Year
IF
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