Rare Disease
Cardiomyopathy, Dilated, 2c (CMD2C)
Alias:
Cmd2c
Cardiomyopathy, Dialted, Type 2c
Dilated Cardiomyopathy 2c
Cardiovascular diseases
Neuronal diseases
Immune diseases
Bone diseases
Ear diseases
Muscle diseases
Basic Information
Medical Symptom
Gene & Mutation
Drugs
Disease Model
References
Basic Information
Cardiomyopathy, Dilated, 2c, also known as cmd2c, is related to cardiomyopathy, dilated, 1a. An important gene associated with Cardiomyopathy, Dilated, 2c is PPCS (Phosphopantothenoylcysteine Synthetase). Affiliated tissues include heart, and related phenotypes are dilated cardiomyopathy and increased serum lactate
Basic Information
Inheritance
Age Of Onset
Prevalence
Related Gene
Disease Model
Reference
MALACARD
AR
Unknown
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2
3
1
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
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available
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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Gene
Function
Score
Count
No data available
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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Phase
No data available
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.
Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available
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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PMID
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IF
No Data Found!
Comparison
BioGPT