Symptoms and Testing information for CCBE1 Gene Hennekam lymphangiectasia-lymphedema syndrome type 1 Genetic Test

Symptoms and Testing information for CCBE1 Gene Hennekam lymphangiectasia-lymphedema syndrome type 1 Genetic Test

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 […]

Symptoms and Testing information for SP110 Gene Hepatic venoocclusive disease with immunodeficiency Genetic Test

Symptoms and Testing information for SP110 Gene Hepatic venoocclusive disease with immunodeficiency Genetic Test

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 and Testing information for NCF2 Gene Granulomatous disease chronic autosomal recessive cytochrome b-positive type 2 Genetic Test

Symptoms and Testing information for NCF2 Gene Granulomatous disease chronic autosomal recessive cytochrome b-positive type 2 Genetic Test

Understanding NCF2 Gene Granulomatous Disease Chronic Granulomatous Disease (CGD) is a rare and inherited disorder that affects the immune system’s ability to fight off certain infections. Among the various types of CGD, the autosomal recessive cytochrome b-positive type 2, caused by mutations in the NCF2 gene, stands out due to its unique characteristics and inheritance […]

Symptoms and Testing information for NCF4 Gene Granulomatous disease chronic autosomal recessive cytochrome b-positive type 3 Genetic Test

Symptoms and Testing information for NCF4 Gene Granulomatous disease chronic autosomal recessive cytochrome b-positive type 3 Genetic Test

Chronic Granulomatous Disease (CGD) is a rare and serious genetic disorder that affects the immune system. Among the types of CGD, the Autosomal Recessive Cytochrome b-Positive Type 3, linked to mutations in the NCF4 gene, is one of the less common forms. Patients with this condition have immune systems that struggle to fight off certain […]

Symptoms and Testing information for COL11A2 Gene Fibrochondrogenesis 2 Genetic Test

Symptoms and Testing information for COL11A2 Gene Fibrochondrogenesis 2 Genetic Test

Fibrochondrogenesis 2 is a rare genetic disorder that arises from mutations in the COL11A2 gene. This condition is characterized by a range of symptoms that affect the skeletal system, leading to significant health challenges from birth. Understanding the symptoms and the availability of genetic testing is crucial for early diagnosis and management of the condition. […]

Symptoms and Testing information for COL11A1 Gene Fibrochondrogenesis type 1 Genetic Test

Symptoms and Testing information for COL11A1 Gene Fibrochondrogenesis type 1 Genetic Test

Fibrochondrogenesis type 1 is a rare genetic disorder that significantly affects the development of the skeletal system. This condition is caused by mutations in the COL11A1 gene, which plays a crucial role in the formation of collagen, a fundamental protein in the body’s connective tissues. Recognizing the symptoms of this disorder early on can lead […]

Symptoms and Testing information for LBR Gene Greenberg skeletal dysplasia Genetic Test

Symptoms and Testing information for LBR Gene Greenberg skeletal dysplasia Genetic Test

Greenberg skeletal dysplasia, also known as HEM skeletal dysplasia, is a rare genetic disorder that affects the development of bones and other tissues in the body. This condition is caused by mutations in the LBR gene, which plays a crucial role in the structure and function of the nuclear envelope. Individuals with Greenberg skeletal dysplasia […]

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