Spastic Paraplegia 2, X-Linked (SPG2)

Alias:
Spg2
Hereditary Spastic Paraplegia 2
Spastic Paraplegia Type 2
Hereditary X-Linked Recessive Spastic Paraplegia
X-Linked Spastic Paraplegia Type 2
Spastic Paraparesis Type 2
Spastic Paraplegia 2
Spastic Gait Type 2
Sppx2
X Linked Recessive Hereditary Spastic Paraplegia
Spastic Paraplegia Type 2, X-Linked
X-Linked Spastic Paraplegia 2
Paraplegia, Spastic, Type 2
Spastic Paraplegia-2
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Spastic Paraplegia 2, X-Linked, also known as spg2, is related to pelizaeus-merzbacher disease and leukodystrophy, and has symptoms including ataxia and cerebellar signs. An important gene associated with Spastic Paraplegia 2, X-Linked is PLP1 (Proteolipid Protein 1). Affiliated tissues include spinal cord and eye, and related phenotypes are spasticity and hyperreflexia
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
XL
XLD
Child
<1/1000000
32
202
69

Medical Symptom

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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

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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
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IF
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