Osteology Diseases

— 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. […]

Hemophagocytic lymphohistiocytosis (HLH) is a rare but severe syndrome of excessive immune activation. It can be inherited or acquired, with the genetic form often presenting in infancy or early childhood. Among the genetic causes, mutations in the UNC13D gene lead to a form of the disease known as familial hemophagocytic lymphohistiocytosis type 3 (FHL3). Understanding […]

Symptoms of STX11 Gene Hemophagocytic Lymphohistiocytosis Type 4 Hemophagocytic lymphohistiocytosis (HLH) is a rare but severe syndrome of excessive immune activation. Type 4, associated with mutations in the STX11 gene, presents unique challenges and symptoms. Understanding these can be crucial for early diagnosis and treatment. Hemophagocytic lymphohistiocytosis type 4, caused by mutations in the STX11 […]

Hemophagocytic lymphohistiocytosis (HLH) is a rare but potentially life-threatening condition that affects the immune system. Among the genetic forms of this disease, type 5 is caused by mutations in the STXBP2 gene. This particular form of HLH can lead to severe inflammation and damage to organs throughout the body, including the liver, spleen, and bone […]

Hennekam Lymphangiectasia-Lymphedema Syndrome Type 1 (HLLS1) is a rare genetic disorder characterized by a combination of lymphedema, lymphangiectasia, and developmental anomalies. It is caused by mutations in the CCBE1 gene, which plays a crucial role in the development and maintenance of the lymphatic system. This condition can lead to significant medical complications and impact the […]

Understanding SP110 Gene Hepatic Venoocclusive Disease with Immunodeficiency Hepatic veno-occlusive disease with immunodeficiency (VODI) is a rare genetic disorder that poses significant health challenges to those affected. This condition is characterized by severe liver disease and a compromised immune system, making it crucial for early diagnosis and intervention. The genetic underpinnings of this disease have […]

Symptoms of TLR3 Gene Herpes Simplex Encephalitis Type 2 Susceptibility Herpes Simplex Encephalitis (HSE) is a serious condition caused by the herpes simplex virus (HSV). It leads to inflammation of the brain, causing a range of neurological problems. While anyone can be affected by HSE, certain individuals are more susceptible due to genetic factors. One […]

SLC29A3 gene histiocytosis-lymphadenopathy plus syndrome is a rare genetic disorder that can affect multiple systems in the body, leading to a wide range of symptoms. Understanding these symptoms is crucial for early diagnosis and treatment. At DNA Labs UAE, we offer a comprehensive genetic test for this condition, ensuring that individuals and families have access […]