Is Juvenile Hyaline Fibromatosis hereditary?
Here you can see if Juvenile Hyaline Fibromatosis can be hereditary. Do you have any genetic components? Does any member of your family have Juvenile Hyaline Fibromatosis or may be more predisposed to developing the condition?
Yes, Juvenile Hyaline Fibromatosis is hereditary. It is a rare genetic disorder characterized by the formation of tumors in the skin, joints, and other connective tissues. It is inherited in an autosomal recessive manner, meaning that both parents must carry a copy of the mutated gene for their child to be affected. The condition is caused by mutations in the ANTXR2 gene. Early diagnosis and genetic counseling are crucial for families affected by this condition.
Juvenile Hyaline Fibromatosis (JHF) is a rare genetic disorder that affects the connective tissues in the body. It is characterized by the formation of tumors called fibromas, which can occur in various parts of the body including the skin, joints, and bones. These fibromas can lead to a range of symptoms such as joint stiffness, limited mobility, and skin lesions.
The inheritance pattern of JHF is autosomal recessive, which means that both parents must carry a copy of the mutated gene for their child to be affected. When both parents are carriers, there is a 25% chance with each pregnancy that the child will inherit two copies of the mutated gene and develop JHF.
The specific gene mutations responsible for JHF have been identified as the CMG2 gene, also known as ANO5. This gene provides instructions for producing a protein involved in the formation and maintenance of connective tissues. Mutations in the CMG2 gene disrupt the normal function of this protein, leading to the development of fibromas in affected individuals.
While JHF is a hereditary condition, it is important to note that not all individuals who inherit the mutated gene will develop the disorder. Some carriers may not exhibit any symptoms or may have milder forms of the condition. Genetic counseling and testing can help determine the risk of passing on the mutated gene and provide guidance for affected families.
