Rare Disease
Hemophilia B (HEMB)
Alias:
Christmas Disease
Factor Ix Deficiency
Congenital Factor Ix Deficiency
Plasma Thromboplastin Component Deficiency
Hereditary Factor Ix Deficiency Disease
Congenital Factor Ix Disorder
Congenital F9 Deficiency
Severe Hemophilia B
Mild Hemophilia B
F9 Deficiency
Hemb
Bleeding Disorder in Hemophilia B Carriers
Moderate Congenital Factor Ix Deficiency
Severe Congenital Factor Ix Deficiency
Mild Congenital Factor Ix Deficiency
Moderate Congenital F9 Deficiency
Deficiency, Functional Factor Ix
Severe Congenital F9 Deficiency
Recessive X-Linked Hemophilia B
Mild Congenital F9 Deficiency
Intravascular Clotting Defect
Moderate Hemophilia B
Factor 9 Deficiency
Immune diseases
Blood diseases
Neuronal diseases
Muscle diseases
Basic Information
Hemophilia B, also known as christmas disease, is related to hemophilia b leyden and hemophilia. An important gene associated with Hemophilia B is F9 (Coagulation Factor IX), and among its related pathways/superpathways are Response to elevated platelet cytosolic Ca2+ and Collagen chain trimerization. The drugs Anti-inhibitor coagulant complex and Ropivacaine have been mentioned in the context of this disorder. Affiliated tissues include brain and whole blood, and related phenotypes are hematuria and intracranial hemorrhage
Basic Information
Inheritance
Age Of Onset
Prevalence
Related Gene
Disease Model
Reference
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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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
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
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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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CAS Number
Status
Phase
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
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
Journal
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Comparison
BioGPT