X-linked adrenoleukodystrophy (X-ALD) is a rare, inherited peroxisomal disorder that predominantly affects males. Characterized by the accumulation of very long-chain fatty acids (VLCFAs) in various tissues, it leads to progressive damage of the adrenal cortex, spinal cord, and white matter of the brain. The disorder stems from mutations in the ABCD1 gene, resulting in impaired
Wiskott-Aldrich Syndrome (WAS) is a rare, X-linked recessive primary immunodeficiency disorder characterized by a clinical triad of eczema, thrombocytopenia with small platelets, and recurrent infections due to combined immunodeficiency. The syndrome is caused by mutations in the WAS gene, which encodes the Wiskott-Aldrich Syndrome protein (WASp), essential for the normal functioning of blood cells, particularly
Wilson’s disease is a rare autosomal recessive genetic disorder characterized by excessive accumulation of copper in vital organs, primarily the liver and brain. It is caused by mutations in the ATP7B gene, responsible for encoding a protein crucial in copper transport. In healthy individuals, copper is absorbed from food and excess amounts are excreted via
Wilms’ tumor, also known as nephroblastoma, is the most common form of kidney cancer in children. It primarily affects children under the age of five and accounts for approximately 6% of all childhood cancers. Due to advancements in diagnostic techniques and multimodal therapy, Wilms’ tumor now boasts a survival rate exceeding 90% in developed countries.
Colorectal cancer (CRC) remains a leading cause of cancer-related morbidity and mortality worldwide. In recent years, molecular diagnostics have transformed CRC treatment, particularly through identification of biomarkers such as epidermal growth factor receptor (EGFR) expression and wild-type KRAS status. This combination—wild-type KRAS, EGFR-positive colorectal cancer—defines a patient subset highly responsive to EGFR-targeted therapies, offering a
Colorectal cancer (CRC) represents a significant global health burden, ranking among the top three most commonly diagnosed cancers worldwide. Among its molecular determinants, RAS oncogenes, particularly KRAS and NRAS, play a pivotal role in tumor behavior and treatment responsiveness. Patients with wild-type KRAS and NRAS colorectal cancer, which denotes the absence of mutations in these
Whipple’s disease is a rare, systemic infectious disease caused by the bacterium Tropheryma whipplei. Primarily affecting the small intestine, it leads to malabsorption, but the infection can become systemic, involving multiple organs, including the heart, brain, joints, and eyes. Left untreated, it is progressively debilitating and potentially fatal. Causative Agent: Tropheryma Whipplei Tropheryma whipplei is
WHIM syndrome (Warts, Hypogammaglobulinemia, Infections, and Myelokathexis) is a rare, autosomal dominant primary immunodeficiency disorder caused primarily by gain-of-function mutations in the CXCR4 gene. It is characterized by recurrent bacterial infections, reduced levels of immunoglobulins, chronic warts due to HPV infection, and neutropenia linked to bone marrow abnormalities. The syndrome presents early in life and
Walking impairment due to multiple sclerosis (MS) is a common and often debilitating symptom that significantly impacts the independence and quality of life of individuals with MS. This condition stems from the demyelination of nerve fibers within the central nervous system, disrupting the communication between the brain and muscles that coordinate movement. Neurological Basis of
Waldenström’s Macroglobulinemia (WM) is a rare, indolent type of non-Hodgkin lymphoma characterized by the excessive production of immunoglobulin M (IgM) monoclonal proteins. This blood cancer originates from abnormal B lymphocytes that evolve into lymphoplasmacytic cells. These malignant cells infiltrate the bone marrow, spleen, liver, and lymph nodes, impairing the body’s ability to produce healthy blood