Spastic Paraplegia 9a, Autosomal Dominant (SPG9A)

Alias:
Hereditary Spastic Paraplegia 9a
Spastic Paraparesis-Amyopathy-Cataracts-Gastroesophageal Reflux Syndrome
Ad-Spg9a
Spg9a
Cataracts with Motor Neuronopathy, Short Stature, and Skeletal Abnormalities
Cataracts-Motor Neuropathy-Short Stature-Skeletal Anomalies Syndrome
Autosomal Dominant Spastic Paraplegia Type 9a
Spastic Paraparesis with Amyotrophy, Cataracts, and Gastroesophageal Reflux
Cataracts with Motor Neuronopathy, Short Stature and Skeletal Abnormalities
Spastic Paraparesis with Amyopathy, Cataracts, and Gastroesophageal Reflux
Spastic Paraparesis with Amyopathy, Cataracts and Gastroesophageal Reflux
Cataracts Motor Neuropathy-Short Stature-Skeletal Anomalies Syndrome
Autosomal Dominant Complex Spastic Paraplegia Type 9a
Autosomal Dominant Spastic Paraplegia 9a
Spastic Paraplegia 9, Autosomal Dominant
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Spastic Paraplegia 9a, Autosomal Dominant, also known as hereditary spastic paraplegia 9a, is related to spastic paraplegia 9b, autosomal recessive and spastic paraplegia type 5a, and has symptoms including upper motor neuron signs An important gene associated with Spastic Paraplegia 9a, Autosomal Dominant is ALDH18A1 (Aldehyde Dehydrogenase 18 Family Member A1). Affiliated tissues include eye and spinal cord, and related phenotypes are spastic gait and lower limb hyperreflexia
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Infant
<1/1000000
16
70
12

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

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PMID
Journal
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IF
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