Osteology Diseases

Symptoms of CD59 Gene Hemolytic Anemia CD59-Mediated with or Without Immune-Mediated Polyneuropathy Hemolytic anemia caused by mutations in the CD59 gene, with or without associated immune-mediated polyneuropathy, is a rare but serious condition. This genetic disorder impacts the body’s ability to protect red blood cells from being destroyed by the immune system, leading to a […]

— Hypophosphatemic rickets is a rare genetic disorder that affects the bones, making them weak and soft. It is primarily caused by an abnormality in the FGF23 gene, leading to an autosomal dominant form of the disease. This condition disrupts the normal balance of phosphorus in the body, resulting in low levels of phosphate in […]

Hemophagocytic lymphohistiocytosis (HLH) is a rare but severe syndrome of excessive immune activation. Type 2 HLH, specifically, is caused by mutations in the PRF1 gene, leading to the disorder’s familial or primary form. This genetic anomaly disrupts the normal function of immune cells, causing them to aggressively attack the body’s own tissues and organs. Recognizing […]

DMP1 gene Hypophosphatemic rickets autosomal recessive type 1 is a rare genetic disorder that affects bone development and mineralization. This condition, caused by mutations in the DMP1 gene, leads to a range of symptoms that can significantly impact an individual’s quality of life. Recognizing these symptoms early on is crucial for managing the condition effectively. […]

Geroderma osteodysplasticum is a rare genetic disorder that is characterized by skin laxity and a prematurely aged appearance, as well as skeletal abnormalities. This condition is caused by mutations in the GORAB gene, which plays a crucial role in the development and maintenance of connective tissue. Understanding the symptoms associated with this disorder is essential […]

Ghosal Hematodiaphyseal Dysplasia (GHDD) is a rare genetic disorder that affects the development of bones and the production of blood cells. This condition is caused by mutations in the TBXAS1 gene, which plays a crucial role in bone development and the regulation of blood cell production. Recognizing the symptoms of this disorder is crucial for […]

Understanding the complexities of genetic conditions is crucial for early diagnosis and effective management. Among the various genetic disorders, Gnathodiaphyseal Dysplasia, linked to mutations in the ANO5 gene, presents unique challenges and symptoms. DNA Labs UAE offers a comprehensive genetic test specifically designed to identify mutations in the ANO5 gene, providing essential information for individuals […]

Gracile bone dysplasia, a rare genetic disorder, presents a significant challenge for affected individuals and their families. This condition, characterized by extremely slender bones and other skeletal anomalies, is caused by mutations in the FAM111A gene. Understanding the symptoms and genetic underpinnings of gracile bone dysplasia is crucial for early diagnosis and management. DNA Labs […]

Chronic Granulomatous Disease (CGD) is a rare and potentially life-threatening condition that affects the immune system’s ability to fight off certain infections. Among the genetic mutations leading to CGD, mutations in the NCF1 gene are responsible for a specific subtype known as “Chronic Granulomatous Disease, Autosomal Recessive, Cytochrome b-positive type 1” (CGD-AR-CYBB1). Recognizing the symptoms […]

Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome b-Negative, commonly referred to as CYBA gene-related granulomatous disease, is a rare genetic disorder that affects the immune system. It is characterized by an inability of phagocytes, a type of white blood cell, to produce a burst of reactive oxygen species (ROS) needed to kill certain ingested pathogens. This […]