Spastic Quadriplegic Cerebral Palsy

Alias:
Spastic Quadriplegia
Inherited Congenital Spastic Tetraplegia
Inherited Congenital Spastic Quadriplegia
Quadriplegic Infantile Cerebral Palsy
Tetraplegic Infantile Cerebral Palsy
Cerebral Palsy Spastic Quadriplegic
Quadriplegic Cerebral Palsy
Cerebral Palsy, Quadriplegic, Infantile
Cerebral Palsy with Spastic Tetraplegia
Spastic Tetraplegic Cerebral Palsy
Congenital Spastic Quadriplegia
Congenital Quadriplegia Nos
Tetraplegic Cerebral Palsy
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Spastic Quadriplegic Cerebral Palsy, also known as spastic quadriplegia, is related to hereditary spastic paraplegia 51 and spastic paraplegia 50, autosomal recessive, and has symptoms including muscle spasticity and opisthotonus. An important gene associated with Spastic Quadriplegic Cerebral Palsy is KANK1 (KN Motif And Ankyrin Repeat Domains 1), and among its related pathways/superpathways are Metabolism and Fatty acid metabolism. Affiliated tissues include brain and spinal cord, and related phenotype is nervous system.
Related ID:
MESH:D002547
ICD11:1155284708

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
Unknown
<1/1000000
45
330
--

Medical Symptom

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

Gene & Mutation

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No data available

Related Drugs

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No data available

Disease Model

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Name
MGI
Related Gene
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Publications
No data available

References Literature

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PMID
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IF
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