Ichthyosis with confetti, also known as ichthyosis en confetti or congenital reticular ichthyosiform erythroderma, is a rare skin disorder. It is characterized by red, scaly skin that is present from birth. Over time, individuals with this condition develop areas of normal skin amidst the widespread scaling, which resembles confetti. The primary gene associated with this […]
Osteology Diseases
Symptoms and Testing information for CD81 Gene Immunodeficiency common variable type 6 Genetic Test
“` Symptoms of CD81 Gene Immunodeficiency Common Variable Type 6 Genetic Test Immunodeficiency disorders interfere with the normal functioning of the immune system, making it difficult for the body to fight infections and diseases. One such disorder is linked to the CD81 gene, leading to a condition known as Common Variable Immunodeficiency Type 6 (CVID6). […]
Symptoms and Testing information for TGM1 Gene Ichthyosis congenital autosomal recessive type 1 Genetic Test
Ichthyosis congenital autosomal recessive type 1, also known as ARCI1, is a rare genetic condition that affects the skin. It is caused by mutations in the TGM1 gene, which plays a crucial role in the development of the skin’s outer layer. This condition is characterized by dry, thickened, scaly skin that can be present from […]
Symptoms and Testing information for LRBA Gene Immunodeficiency common variable type 8 Genetic Test
Symptoms of LRBA Gene Immunodeficiency Common Variable Type 8 Genetic Test The LRBA gene plays a pivotal role in the human immune system, and mutations in this gene can lead to a condition known as LRBA deficiency. This deficiency falls under the broader category of immunodeficiency disorders, specifically classified as Common Variable Immunodeficiency Type 8 […]
Symptoms and Testing information for ST14 Gene Ichthyosis congenital autosomal recessive type 11 Genetic Test
Symptoms of ST14 Gene Ichthyosis Congenital Autosomal Recessive Type 11 Ichthyosis congenital autosomal recessive type 11, caused by mutations in the ST14 gene, is a rare genetic disorder. This condition is characterized by the presence of thick, scaly skin which is the hallmark symptom of ichthyosis. The scales are usually white, gray, or brown, and […]
Symptoms and Testing information for LAMTOR2 Gene Immunodeficiency due to Defect in MAPBP-Interacting Protein Genetic Test
Symptoms of LAMTOR2 Gene Immunodeficiency due to Defect in MAPBP-Interacting Protein Genetic Test Understanding the symptoms of LAMTOR2 gene immunodeficiency is crucial for early diagnosis and treatment. This condition, resulting from a defect in the MAPBP-Interacting Protein, can lead to a range of health issues. The LAMTOR2 gene plays a significant role in the immune […]
Symptoms and Testing information for ALOX12B Gene Ichthyosis congenital autosomal recessive type 2 Genetic Test
Ichthyosis congenital autosomal recessive type 2, also known as ARCI2, is a rare genetic skin disorder caused by mutations in the ALOX12B gene. This condition is characterized by the appearance of scaly skin shortly after birth. The scales are usually large, dark, and plate-like, covering most parts of the body. It is a condition that […]
Symptoms and Testing information for CERS3 Gene Ichthyosis congenital autosomal recessive type 9 Genetic Test
Ichthyosis congenital autosomal recessive type 9, caused by mutations in the CERS3 gene, is a rare genetic disorder that significantly impacts the skin. DNA Labs UAE offers a comprehensive genetic test for this condition, aimed at providing crucial information for affected individuals and their families. The test, priced at 4400 AED, is a vital tool […]
Symptoms and Testing information for ABCA12 Gene Ichthyosis lamellar type 2 Genetic Test
Ichthyosis lamellar type 2, also known as Harlequin ichthyosis, is a severe genetic disorder that affects the skin. This condition is caused by mutations in the ABCA12 gene, which plays a crucial role in the development of the lipid barrier of the skin. Individuals with this condition are born with very hard, thick skin covering […]
Symptoms and Testing information for CYP4F22 Gene Ichthyosis lamellar type 3 Genetic Test
Ichthyosis lamellar type 3 is a rare genetic condition that significantly impacts the skin, causing it to become dry, scaly, and thickened. This condition is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to be affected. The CYP4F22 gene has been […]