Rare Disease
Fanconi Anemia, Complementation Group D1 (FANCD1)
Alias:
Fanconi Anemia Complementation Group D1
Fancd1
Fad1
Inherited Cancer-Predisposing Syndrome Due to Biallelic Brca2 Mutations
Nephrological diseases
Blood diseases
Bone diseases
Immune diseases
Mental diseases
Neuronal diseases
Skin diseases
Basic Information
Fanconi Anemia, Complementation Group D1, also known as fanconi anemia complementation group d1, is related to fanconi anemia, complementation group e and hereditary breast cancer. An important gene associated with Fanconi Anemia, Complementation Group D1 is BRCA2 (BRCA2 DNA Repair Associated), and among its related pathways/superpathways are Cytokine Signaling in Immune system and Homology Directed Repair. Affiliated tissues include bone marrow and bone, and related phenotypes are intrauterine growth retardation and failure to thrive
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Basic Information
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MALACARDS
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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