Understanding EXT2 Gene Exostoses Multiple Type 2 EXT2 gene exostoses multiple type 2, also known as Hereditary Multiple Exostoses (HME) type 2, is a genetic disorder characterized by the growth of multiple noncancerous (benign) bone tumors, known as exostoses or osteochondromas. These growths typically appear in childhood and continue to develop until puberty. The EXT2 […]
Osteology Diseases
Symptoms and Testing information for LAMB3 Gene Epidermolysis bullosa junctional Herlitz type Genetic Test
Epidermolysis Bullosa (EB) is a group of genetic skin disorders that cause the skin to be very fragile and to blister easily. Among its subtypes, the Junctional Epidermolysis Bullosa Herlitz type (JEB-Herlitz) is one of the most severe, with symptoms often appearing at birth or in early infancy. The LAMB3 gene plays a crucial role […]
Symptoms and Testing information for ERCC4 Gene Fanconi anemia complementation group Q Genetic Test
Symptoms of ERCC4 Gene Fanconi Anemia Complementation Group Q Genetic Test Fanconi anemia (FA) is a rare, inherited blood disorder that leads to bone marrow failure. It is caused by genetic mutations in one of several genes, with the ERCC4 gene being one of them, specifically related to Fanconi anemia complementation group Q. Recognizing the […]
Symptoms and Testing information for LAMB3 Gene Epidermolysis bullosa junctional non-Herlitz type Genetic Test
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 […]
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 KRT1 Gene Epidermolytic hyperkeratosis Genetic Test
Understanding KRT1 Gene Epidermolytic Hyperkeratosis Epidermolytic hyperkeratosis, also known as bullous congenital ichthyosiform erythroderma, is a rare genetic skin disorder. It is characterized by blistering and a marked thickening of the skin on the palms and soles, along with generalized skin fragility. This condition is primarily caused by mutations in the KRT1 gene, which plays […]
Symptoms and Testing information for KRT10 Gene Epidermolytic hyperkeratosis Genetic Test
Epidermolytic hyperkeratosis (EHK), also known as bullous congenital ichthyosiform erythroderma, is a rare genetic skin disorder characterized by blistering and thickening of the skin. This condition is caused by mutations in the KRT10 gene, which plays a crucial role in the structure and function of the keratin in the skin. Understanding the symptoms of this […]
Symptoms and Testing information for KRT9 Gene Epidermolytic palmoplantar keratoderma Genetic Test
Epidermolytic palmoplantar keratoderma (EPPK) is a rare genetic skin disorder characterized by thickening of the skin on the palms of the hands and the soles of the feet. This condition is primarily caused by mutations in the KRT9 gene, which plays a crucial role in the development and maintenance of the skin’s structure. Understanding the […]