Genetic imprinting disorders

Angelman syndrome is a rare genetic disorder caused by a mutation in the UBE3A gene on chromosome 15. It is characterized by developmental delay, intellectual disability, motor and balance problems, and frequent laughter. It is often associated with speech difficulties, seizures, and distinct facial features.

Beckwith-Wiedemann syndrome is a rare genetic disorder caused by changes in genes on chromosome 11, leading to abnormal tissue growth. It is characterized by overgrowth of organs such as the tongue, kidneys, liver, and intestines, as well as abnormally small body size. It may also be associated with an increased risk of certain types of cancer.

Kagami-Ogata syndrome is a rare genetic disorder characterized by abnormal cell growth in various organs, including symptoms such as organomegaly, growth retardation, and developmental delays in cognitive and motor functions. It may also be associated with heart and nervous system issues. This disorder is caused by an imprinting defect on chromosome 6.

MAGEL2-related Prader-Willi-like syndrome is a rare genetic disorder caused by a mutation in the MAGEL2 gene on chromosome 15. This syndrome is characterized by developmental delays in both cognitive and motor skills, difficulty with weight control (such as severe obesity), behavioral issues, and possible speech and motor delays. Although similar to Prader-Willi syndrome, the symptoms may be less severe.

Prader-Willi syndrome is a rare genetic disorder caused by the absence or dysfunction of genes on chromosome 15, specifically in the paternal copy. This syndrome is characterized by several symptoms, including growth deficiency, difficulty feeding in early childhood, followed by abnormal weight gain (obesity) in later stages, developmental delays, muscle weakness, and behavioral issues such as lack of motivation and emotional regulation problems.

Pseudo-hypoparathyroidism type 1A is a rare genetic disorder caused by a mutation in the GNAS gene, affecting the function of the parathyroid glands. This disorder leads to the body’s resistance to the effects of parathyroid hormone, resulting in low calcium levels in the blood and elevated phosphate levels. Common symptoms include growth retardation, skeletal abnormalities such as shortened fingers, and difficulty regulating calcium levels in the body.

Pseudo-hypoparathyroidism type 1B is a rare genetic disorder caused by a defect in the GNAS gene, leading to the body’s resistance to the effects of parathyroid hormone. In this type, there are no skeletal abnormalities as seen in type 1A, but the body is still unable to properly respond to parathyroid hormone, resulting in low calcium levels in the blood and elevated phosphate levels.

Pseudo-hypoparathyroidism type 1C is a rare genetic disorder similar to type 1A and 1B pseudo-hypoparathyroidism, caused by a defect in the GNAS gene. This type is characterized by resistance to parathyroid hormone, leading to low calcium levels in the blood and elevated phosphate levels. However, there are no skeletal abnormalities typically seen in type 1A. Symptoms and their severity can vary from person to person, but the focus is typically on disturbances in blood mineral levels.

Pseudo-pseudo-hypoparathyroidism is a rare genetic disorder that occurs when there is a defect in the GNAS gene, leading to resistance to parathyroid hormone. In this condition, individuals experience low calcium levels in the blood, but there are no skeletal or behavioral abnormalities typically associated with pseudo-hypoparathyroidism (such as short fingers or short stature). Symptoms persist without noticeable structural changes.