Symptoms of FBLIM1 Gene Kindler Syndrome Genetic Test Kindler Syndrome is a rare genetic disorder that affects the skin and mucous membranes. It is caused by mutations in the FBLIM1 gene, which plays a crucial role in the development and maintenance of epithelial tissues. Individuals with Kindler Syndrome may experience a wide range of symptoms, […]
Osteology Diseases
Symptoms and Testing information for FERMT1 Gene Kindler Syndrome Genetic Test
Symptoms of FERMT1 Gene Kindler Syndrome Genetic Test Kindler Syndrome is a rare genetic disorder that affects the skin primarily, but can also have systemic implications. It is caused by mutations in the FERMT1 gene, which plays a crucial role in the connection between cells and their surrounding extracellular matrix. This connection is vital for […]
Symptoms and Testing information for LAMA3 Gene Laryngoonychocutaneous Syndrome Genetic Test
Laryngoonychocutaneous syndrome is a rare genetic disorder that affects various parts of the body, including the larynx (voice box), nails, and skin. This condition is caused by mutations in the LAMA3 gene, which plays a crucial role in the development and maintenance of these tissues. Recognizing the symptoms of this syndrome early on can be […]
Symptoms and Testing information for COL2A1 Gene Legg-Calve-Perthes Disease Genetic Test
Legg-Calve-Perthes Disease (LCPD) is a rare condition that affects the hip joint in children. It occurs when blood supply to the femoral head (the ball part of the hip) is temporarily disrupted, causing the bone to die. This can lead to pain, stiffness, and eventually, joint deformity. Understanding the genetic underpinnings of this disease, particularly […]
Symptoms and Testing information for ADAM17 Gene Inflammatory Skin and Bowel Disease Neonatal Type 1 Genetic Test
Symptoms of ADAM17 Gene Inflammatory Skin and Bowel Disease Neonatal Type 1 Genetic Test In the realm of genetic testing and diagnostics, the ADAM17 gene inflammatory skin and bowel disease neonatal type 1 genetic test represents a significant advancement in identifying a rare but serious condition affecting newborns. This condition, stemming from mutations in the […]
Symptoms and Testing information for IL12A Gene Interleukin 12A Deficiency Genetic Test
Symptoms of IL12A Gene Interleukin 12A Deficiency The IL12A gene plays a crucial role in the immune system by encoding the interleukin-12 subunit p35. This protein is part of a cytokine that acts as a communication signal among immune cells, helping to initiate and regulate the body’s defense mechanisms against infections. A deficiency in the […]
Symptoms and Testing information for IL2RA Gene Interleukin 2 Receptor Deficiency Genetic Test
Symptoms of IL2RA Gene Interleukin 2 Receptor Deficiency Genetic Test The IL2RA gene plays a crucial role in the immune system by encoding the alpha chain of the interleukin-2 receptor (IL-2Rα), which is essential for the activation and proliferation of lymphocytes, key players in our body’s defense mechanism. A deficiency in the IL2RA gene can […]
Symptoms and Testing information for RORC Gene Immunodeficiency Type 42 Genetic Test
Symptoms of RORC Gene Immunodeficiency Type 42 Genetic Test The RORC gene plays a crucial role in the immune system, particularly in the development and function of several types of immune cells, including T cells and innate lymphoid cells. Mutations in the RORC gene can lead to a form of primary immunodeficiency known as Immunodeficiency […]
Symptoms and Testing information for ITGA3 Gene Interstitial Lung Disease Nephrotic Syndrome and Epidermolysis Bullosa Congenita Genetic Test
Symptoms of ITGA3 Gene Interstitial Lung Disease, Nephrotic Syndrome, and Epidermolysis Bullosa Congenita The ITGA3 gene plays a crucial role in the proper development and functioning of various organs in the human body, including the skin, lungs, and kidneys. Mutations in the ITGA3 gene can lead to a complex spectrum of diseases, including Interstitial Lung […]
Symptoms and Testing information for UNG Gene Immunodeficiency Type 5 with Hyper IgM Genetic Test
Understanding the intricate nature of genetic conditions is pivotal for both medical professionals and patients. One such condition that has garnered attention in recent years is UNG Gene Immunodeficiency Type 5 with Hyper IgM. This condition, though rare, presents a unique set of symptoms and challenges that are crucial for affected individuals and their families […]