Autosomal Dominant Intellectual Developmental Disorder 19 (MRD19)

Alias:
Autosomal Dominant Non-Syndromic Intellectual Disability 19
Autosomal Dominant Mental Retardation 19
Mrd19
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Autosomal Dominant Intellectual Developmental Disorder 19, also known as autosomal dominant non-syndromic intellectual disability 19, is related to neurodevelopmental disorder with spastic diplegia and visual defects and childhood kidney cell carcinoma. An important gene associated with Autosomal Dominant Intellectual Developmental Disorder 19 is SGPL1 (Sphingosine-1-Phosphate Lyase 1), and among its related pathways/superpathways are Infectious disease and Metabolism of proteins. Related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased mitotic index
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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Unknown
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13
213
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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
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Related Drugs

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No data available

Disease Model

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MGI
Related Gene
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Publications
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References Literature

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IF
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