BMPR1B
BMPR1B: A Gene Linked to Rare but Impactful Disorders
Description
BMPR1B is a gene located on chromosome 4q22. It encodes a type I transmembrane serine/threonine kinase receptor for bone morphogenetic proteins (BMPs), which are signaling molecules essential for various developmental processes, including bone formation, cartilage differentiation, and immune regulation. Mutations in the BMPR1B gene disrupt BMP signaling, leading to a spectrum of rare but potentially severe diseases.
Associated Diseases
The primary diseases associated with BMPR1B mutations are:
- Juvenile Polyposis Syndrome (JPS): An inherited disorder characterized by the development of multiple non-cancerous polyps in the colon and rectum. These polyps often require surgical removal to prevent complications such as bowel obstruction and cancer.
- Pulmonary Arterial Hypertension (PAH): A life-threatening condition where the arteries in the lungs become thickened and narrowed, leading to increased blood pressure in the lungs. PAH can cause shortness of breath, chest pain, and eventual heart failure.
- Hereditary Hemorrhagic Telangiectasia (HHT): A rare genetic disorder that causes abnormal blood vessel development, leading to recurrent nosebleeds, gastrointestinal bleeding, and potential complications involving the lungs, brain, and liver.
- Multiple Osteochondromas (MO): A condition characterized by multiple benign bone tumors called osteochondromas that develop on the surface of long bones. MO can cause bone pain, joint deformities, and nerve compression.
Did you Know ?
Approximately 1 in 100,000 people worldwide are affected by JPS, making it one of the rarer inherited disorders. However, the exact prevalence of BMPR1B-associated diseases combined may be higher, as many cases are likely undiagnosed or misdiagnosed.
