Chromosome 16p13.3 Deletion Syndrome, Proximal (RTS)

Alias:
Rubinstein-Taybi Syndrome
Broad Thumb-Hallux Syndrome
Chromosome 16p13.3 Deletion Syndrome
Broad Thumbs-Halluces Syndrome
Rubinstein-Taybi Syndrome Due to 16p13.3 Microdeletion
Proximal Chromosome 16p13.3 Deletion Syndrome
Rubinstein-Taybi Deletion Syndrome
Rsts Deletion Syndrome
Rubinstein Syndrome
Rsts
Rts
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Chromosome 16p13.3 Deletion Syndrome, Proximal, also known as rubinstein-taybi syndrome, is related to menke-hennekam syndrome 2 and floating-harbor syndrome, and has symptoms including constipation and seizures. An important gene associated with Chromosome 16p13.3 Deletion Syndrome, Proximal is DEL16P13.3 (Chromosome 16p13.3 Deletion Syndrome), and among its related pathways/superpathways are Gene expression (Transcription) and RNA Polymerase I Promoter Opening. The drugs Valproic acid and Neurotransmitter Agents have been mentioned in the context of this disorder. Affiliated tissues include eye and bone, and related phenotypes are intellectual disability and high palate
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Unknown
1-9/1000000
62
772
44

Medical Symptom

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Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Related Drugs

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No data available

Disease Model

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MGI
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Publications
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References Literature

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