Neuropathy, Hereditary Sensory, with Spastic Paraplegia, Autosomal Recessive (HSNSP)

Alias:
Neuropathy, Hereditary Sensory, with Spastic Paraplegia
Neuropathy, Sensory, with Spastic Paraplegia, Hereditary, Autosomal Recessive
Hereditary Sensory and Autonomic Neuropathy with Spastic Paraplegia
Mutilating Hereditary Sensory Neuropathy with Spastic Paraplegia
Mutilating Hsan with Spastic Paraplegia
Hsnsp
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Neuropathy, Hereditary Sensory, with Spastic Paraplegia, Autosomal Recessive, is also known as neuropathy, hereditary sensory, with spastic paraplegia. An important gene associated with Neuropathy, Hereditary Sensory, with Spastic Paraplegia, Autosomal Recessive is CCT5 (Chaperonin Containing TCP1 Subunit 5). Affiliated tissues include spinal cord and skin, and related phenotypes are spasticity and hyperreflexia
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Infant
<1/1000000
1
3
4

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

Name
CAS Number
Status
Phase
No data available

Disease Model

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

References Literature

Title
PMID
Journal
Year
IF
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