Rare Disease
Cowden Syndrome 1 (CWS1)
Alias:
Bannayan-Riley-Ruvalcaba Syndrome
Pten Hamartoma Tumor Syndrome
Lhermitte-Duclos Disease
Bannayan-Zonana Syndrome
Phts
Dysplastic Gangliocytoma of the Cerebellum
Ruvalcaba-Myhre-Smith Syndrome
Riley-Smith Syndrome
Myhre-Riley-Smith Syndrome
Brrs
Bzs
Ldd
Pten Hamartoma Tumor Syndrome with Granular Cell Tumor
Bannayan-Ruvalcaba-Riley Syndrome
Cerebelloparenchymal Disorder Vi
Hamartoma Syndrome, Multiple
Multiple Hamartoma Syndrome
Cws1
Mham
Rmss
Cs
Cd
Macrocephaly, Pseudopapilledema, and Multiple Hemangiomata
Macrocephaly Pseudopapilledema and Multiple Hemangiomata
Cerebellar Granule Cell Hypertrophy and Megalencephaly
Macrocephaly, Multiple Lipomas, and Hemangiomata
Macrocephaly Multiple Lipomas and Hemangiomata
Pten Hamartoma Tumor Syndromes
Ruvalcaba-Myhre Syndrome
Cowden Syndrome, Type 1
Cowden Syndrome
Cowden Disease
Bbrs
Cpd6
Neuronal diseases
Cardiovascular diseases
Gastrointestinal diseases
Skin diseases
Basic Information
Cowden Syndrome 1, also known as bannayan-riley-ruvalcaba syndrome, is related to cowden syndrome 4 and cowden syndrome, and has symptoms including seizures, action tremor and cerebellar ataxia. An important gene associated with Cowden Syndrome 1 is PTEN (Phosphatase And Tensin Homolog), and among its related pathways/superpathways are Infectious disease and ERK Signaling. The drugs Everolimus and Temsirolimus have been mentioned in the context of this disorder. Affiliated tissues include cerebellum and skin, and related phenotypes are macrocephaly and seizure
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Basic Information
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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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Categorization
Description
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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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References
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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