Epidermolysis Bullosa (EB) is a group of rare genetic skin disorders that cause the skin to become very fragile. Among its types, the Junctional Non-Herlitz form, associated with mutations in the LAMB3 gene, presents unique challenges and symptoms for those affected. Understanding these symptoms is crucial for early diagnosis and management of the condition. DNA […]
Osteology Diseases
Symptoms and Testing information for MIR17HG Gene Feingold syndrome type 2 Genetic Test
Symptoms of MIR17HG Gene Feingold Syndrome Type 2 Genetic Test Feingold syndrome type 2, a rare genetic disorder, is caused by mutations in the MIR17HG gene. This condition is characterized by a spectrum of physical and developmental anomalies. Understanding the symptoms is crucial for early diagnosis and management. DNA Labs UAE offers a comprehensive genetic […]
Symptoms and Testing information for DSP Gene Epidermolysis bullosa lethal acantholytic Genetic Test
Epidermolysis Bullosa (EB) is a group of rare genetic skin disorders that cause the skin to become very fragile. Among the various types of EB, the DSP Gene Epidermolysis Bullosa Lethal Acantholytic is one of the most severe forms. This condition is caused by mutations in the DSP gene, which plays a critical role in […]
Symptoms and Testing information for EXPH5 Gene Epidermolysis bullosa nonspecific autosomal recessive Genetic Test
Epidermolysis bullosa (EB) is a group of rare diseases that cause fragile, blistering skin. The condition can vary from mild to severe, and it typically manifests shortly after birth. Among the genetic variants responsible for this condition, mutations in the EXPH5 gene have been identified to cause a specific form of epidermolysis bullosa, known as […]
Symptoms and Testing information for KRT5 Gene Epidermolysis bullosa simplex Genetic Test
Epidermolysis bullosa simplex (EBS) is a genetic condition that affects the skin, causing it to be very fragile and to blister easily. This condition is primarily caused by mutations in the KRT5 gene, which plays a crucial role in the production of keratin, a protein that provides strength and resilience to the skin. Understanding the […]
Symptoms and Testing information for PLEC Gene Epidermolysis bullosa simplex with pyloric atresia Genetic Test
Epidermolysis bullosa simplex with pyloric atresia (EBS-PA) is a rare genetic disorder characterized by fragile skin that easily blisters and pyloric atresia, which is a blockage of the stomach to the intestines. This condition is caused by mutations in the PLEC gene, which plays a crucial role in the integrity and function of skin cells […]
Symptoms and Testing information for KRT14 Gene Epidermolysis bullosa simplex autosomal recessive type 1 Genetic Test
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 […]
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 […]