Digeorge Syndrome (DGS)

Alias:
Chromosome 22q11.2 Deletion Syndrome
Third and Fourth Pharyngeal Pouch Syndrome
Hypoplasia of Thymus and Parathyroids
Dgs
22q11.2 Deletion Syndrome
Pharyngeal Pouch Syndrome
Digeorge's Syndrome
Shprintzen Syndrome
Di-George Syndrome
Digeorge Sequence
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Digeorge Syndrome, also known as chromosome 22q11.2 deletion syndrome, is related to chromosome 22q11.2 deletion syndrome, distal and opitz gbbb syndrome. An important gene associated with Digeorge Syndrome is TBX1 (T-Box Transcription Factor 1), and among its related pathways/superpathways is 22q11.2 copy number variation syndrome. The drugs Dopamine and Risperidone have been mentioned in the context of this disorder. Affiliated tissues include thymus and heart, and related phenotypes are intellectual disability and scoliosis
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Unknown
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Medical Symptom

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Description
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Gene & Mutation

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Disease Model

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MGI
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References Literature

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