Epidermolysis bullosa simplex (EBS) is a group of rare genetic conditions characterized by fragile skin that easily blisters and tears from minor friction or trauma. Specifically, the KRT14 gene epidermolysis bullosa simplex autosomal recessive type 1 is a severe form of the disease caused by mutations in the KRT14 gene. This condition is inherited in […]
Osteology Diseases
Symptoms and Testing information for DST Gene Epidermolysis bullosa simplex autosomal recessive type 2 Genetic Test
Epidermolysis bullosa simplex (EBS) represents a group of rare genetic conditions that result in easy blistering of the skin and mucous membranes in response to minor injury or friction. Among the various types of EBS, the autosomal recessive type 2, linked with mutations in the DST gene, stands out due to its unique genetic inheritance […]
Symptoms and Testing information for KRT14 Gene Epidermolysis bullosa simplex Dowling-Meara type Genetic Test
Epidermolysis bullosa simplex (EBS) is a group of genetic conditions that cause the skin to be very fragile and to blister easily. Among its various types, the Dowling-Meara type, also known as EBS Dowling-Meara, is considered one of the more severe forms. This condition is primarily caused by mutations in the KRT14 gene, which provides […]
Symptoms and Testing information for KRT14 Gene Epidermolysis bullosa simplex Koebner type Genetic Test
Epidermolysis bullosa simplex (EBS) Koebner type is a genetic condition characterized by the fragility of the skin that results in blistering and erosions from minor mechanical trauma. This condition is specifically associated with mutations in the KRT14 gene, which encodes for keratin 14, a protein essential for the structural integrity of the skin. Understanding the […]
Symptoms and Testing information for GJB6 Gene Ectodermal Dysplasia Hidrotic Genetic Test
Ectodermal dysplasias are a group of genetic disorders that involve defects in the development of ectodermal structures, including the skin, hair, nails, teeth, and sweat glands. One specific type, Hidrotic Ectodermal Dysplasia (HED), also known as Clouston Syndrome, is primarily caused by mutations in the GJB6 gene. This condition is characterized by a distinct set […]
Symptoms and Testing information for EDAR Gene Ectodermal Dysplasia Hypohidrotic Autosomal Recessive Genetic Test
Symptoms of EDAR Gene Ectodermal Dysplasia Hypohidrotic Autosomal Recessive Genetic Test Ectodermal Dysplasia Hypohidrotic (ED) is a genetic disorder affecting the development of the ectoderm, the outermost layer of the developing embryo. This layer contributes to the formation of many structures, including the skin, hair, nails, teeth, and sweat glands. One of the genes associated […]
Symptoms and Testing information for EDARADD Gene Ectodermal Dysplasia Hypohidrotic Autosomal Recessive Genetic Test
Ectodermal Dysplasia Hypohidrotic (ED) is a rare genetic condition that affects the development of the ectodermal structures, including the skin, hair, teeth, and sweat glands. The EDARADD gene plays a crucial role in the development of these ectodermal structures. Mutations in the EDARADD gene can lead to Hypohidrotic Ectodermal Dysplasia (HED), a form of the […]
Symptoms and Testing information for IKBKG Gene Ectodermal Dysplasia Hypohidrotic with Immune Deficiency Genetic Test
Understanding the complexities of genetic conditions is crucial for early diagnosis and management. One such rare genetic disorder is the IKBKG gene ectodermal dysplasia hypohidrotic with immune deficiency. This condition, as daunting as it sounds, can have a significant impact on the quality of life of those affected. In this article, we will delve into […]
Symptoms and Testing information for EDA Gene Ectodermal Dysplasia Hypohidrotic X-Linked Genetic Test
Ectodermal Dysplasia Hypohidrotic (EDH) is a rare genetic condition primarily affecting the development of the skin, hair, teeth, and sweat glands. The condition is often inherited in an X-linked pattern, meaning the gene causing the condition, known as the EDA gene, is located on the X chromosome. Given its genetic basis, testing for this condition […]
Symptoms and Testing information for PKP1 Gene Ectodermal Dysplasiaskin Fragility Syndrome Genetic Test
DNA Labs UAE is at the forefront of genetic testing and diagnostics, offering a comprehensive array of services to identify various genetic conditions, including the PKP1 Gene Ectodermal Dysplasia/Skin Fragility Syndrome. This condition, caused by mutations in the PKP1 gene, presents a unique set of challenges and symptoms for those affected. Understanding these symptoms and […]