Symptoms and Testing information for KRT2 Gene Ichthyosis bullous type Genetic Test

Symptoms and Testing information for KRT2 Gene Ichthyosis bullous type Genetic Test

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 […]

Symptoms and Testing information for LAMTOR2 Gene Immunodeficiency due to Defect in MAPBP-Interacting Protein Genetic Test

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 ABCA12 Gene Ichthyosis lamellar type 2 Genetic Test

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

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 […]

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