Spastic Tetraplegia and Axial Hypotonia, Progressive (STAHP)

Alias:
Sod1 Deficiency, Autosomal Recessive
Stahp
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Spastic Tetraplegia and Axial Hypotonia, Progressive, also known as sod1 deficiency, autosomal recessive, is related to amyotrophic lateral sclerosis 1 and bronchopulmonary dysplasia. An important gene associated with Spastic Tetraplegia and Axial Hypotonia, Progressive is SOD1 (Superoxide Dismutase 1). Affiliated tissues include tongue, and related phenotypes are hyperreflexia and abnormal pyramidal sign
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Unknown
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1
18
3

Medical Symptom

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

Gene & Mutation

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Mutations
No data available

Related Drugs

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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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