Symptoms of POMP Gene Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma Genetic Test Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma (KLICK syndrome) is a rare genetic disorder, characterized by a trio of skin abnormalities. This condition is caused by mutations in the POMP gene, which plays a critical role in skin development and […]
Osteology Diseases
Symptoms and Testing information for GJC2 Gene Lymphedema Hereditary Type IC Genetic Test
Lymphedema Hereditary Type IC, caused by mutations in the GJC2 gene, is a rare genetic disorder that leads to the abnormal swelling of body parts, primarily the limbs. This condition stems from the improper functioning of the lymphatic system, which fails to properly drain lymph fluid. Understanding the symptoms associated with this condition is crucial […]
Symptoms and Testing information for DSG1 Gene Keratosis Palmoplantaris Striata Type 1 Genetic Test
Keratosis palmoplantaris striata type 1, also known as striate palmoplantar keratoderma (SPPK), is a rare genetic skin disorder characterized by the development of thickened skin (keratoderma) on the palms of the hands and the soles of the feet. This condition is caused by mutations in the DSG1 gene, which plays a crucial role in skin […]
Symptoms and Testing information for CD27 Gene Lymphoproliferative Syndrome Type 2 Genetic Test
Symptoms of CD27 Gene Lymphoproliferative Syndrome Type 2 Genetic Test CD27 Gene Lymphoproliferative Syndrome Type 2 is a rare genetic disorder that affects the immune system, leading to an increased risk of developing various autoimmune diseases and lymphomas. Understanding the symptoms associated with this condition is crucial for early diagnosis and management. DNA Labs UAE […]
Symptoms and Testing information for DSP Gene Keratosis Palmoplantaris Striata Type 2 Genetic Test
Keratosis Palmoplantaris Striata Type 2, also known as striate palmoplantar keratoderma (SPPK), is a rare genetic condition characterized by thickened skin areas on the palms of the hands and soles of the feet. This condition is caused by mutations in the DSP gene, which plays a crucial role in skin cell adhesion and integrity. Understanding […]
Symptoms and Testing information for FBLIM1 Gene Kindler Syndrome Genetic Test
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, […]
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 SPRED1 Gene Legius Syndrome Genetic Test
Legius syndrome, also known as SPRED1 syndrome, is a rare genetic condition that is often mistaken for Neurofibromatosis type 1 (NF1) due to the overlap in symptoms. It is caused by mutations in the SPRED1 gene, which plays a crucial role in the regulation of cell growth and differentiation. Understanding the symptoms of Legius syndrome […]