Rare Disease
Syngap1-Related Intellectual Disability (MRD5)
Alias:
Syngap1-Related Developmental and Epileptic Encephalopathy
Syngap1-Related Developmental Epileptic Encephalopathy
Mental Retardation, Autosomal Dominant 5
Syngap1-Related Dee
Mrd5
Neuronal diseases
Mental diseases
Gastrointestinal diseases
Blood diseases
Basic Information
Syngap1-Related Intellectual Disability, also known as syngap1-related developmental and epileptic encephalopathy, is related to intellectual developmental disorder, autosomal dominant 5 and cerebellar atrophy, developmental delay, and seizures, and has symptoms including seizures An important gene associated with Syngap1-Related Intellectual Disability is SYNGAP1 (Synaptic Ras GTPase Activating Protein 1). Affiliated tissues include tongue and eye, and related phenotypes are intellectual disability and global developmental delay
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Basic Information
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MALACARD
Medical Symptom
Even among those with the same illness, each patient's condition and symptoms are unique. To provide patient-centered medical care, medical professionals must carefully evaluate individual differences between patients. This involves thorough assessment of medical details when diagnosing and developing treatment plans. To achieve personalized and maximally effective care, practitioners refer to the latest research and standards of care to tailor treatment strategies for each patient.
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Gene & Mutation
Diseases are frequently associated with anomalies or mutations in certain genes. These genes and mutations can disrupt cellular functioning and induce physiological imbalances, resulting in illnesses. In-depth research on illness genes and mutations can help us better understand disease etiology and give new ideas and approaches for disease prevention, diagnosis, and therapy.
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Drugs
Gene target medications are a novel form of treatment that can alter genes or proteins while also blocking disease processes. It precisely detects and chooses target proteins in order to induce therapeutic effects. Target medications are categorized into several groups based on disease causes and molecular foundation, and numerous ways are employed to treat illnesses.
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Disease Model
The mouse disease model refers to the manipulation of the mouse genome through gene editing and other techniques, enabling it to carry a specific disease gene or lack an important gene. This provides an experimental platform for researching the mechanism of disease occurrence, drug development, and treatment efficacy.
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MGI
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Disease literature reviews provide a wide spectrum of research findings and clinical data, giving vital information for our comprehensive understanding of illnesses. By researching this material, we may gain a better understanding of the illness's pathophysiology and treatment strategies, as well as give a scientific foundation for disease prevention and management.
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BioGPT