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 […]
Osteology Diseases
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 CDH3 Gene Ectodermal Dysplasia Ectrodactyly and Macular Dystrophy Genetic Test
Ectodermal dysplasia, ectrodactyly, and macular dystrophy (EEM) are rare, inherited conditions caused by mutations in the CDH3 gene. This complex syndrome is characterized by a unique combination of symptoms affecting the skin, limbs, and eyes. Recognizing the signs and understanding the genetic basis of these conditions is crucial for early diagnosis and management. DNA Labs […]
Symptoms and Testing information for ADAMTS2 Gene Ehlers-Danlos Syndrome Type 7C Genetic Test
Ehlers-Danlos Syndrome (EDS) is a group of inherited disorders that affect the connective tissues, primarily the skin, joints, and blood vessel walls. Among its various types, the Ehlers-Danlos Syndrome Type 7C, also known as the Dermatosparaxis type, is caused by mutations in the ADAMTS2 gene. This rare type of EDS is characterized by extremely fragile […]
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 […]