Pompe disease, also known as glycogen storage disease type II, is a rare genetic disorder that affects approximately 1 in 40,000 people worldwide. It is caused by a deficiency of the enzyme acid alpha-glucosidase (GAA), which is responsible for breaking down glycogen (a form of sugar) in the body. Without enough GAA, glycogen builds up …
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Cushing syndrome is a rare benign or non-cancerous tumor. This syndrome affects both men and women, but it has a higher frequency in women. It results from excess cortisol production (endogenous) as a result of tumor growth in the pituitary gland in the brain or adrenal gland above the kidneys. Additionally, people that take cortisol …
Carcinoid syndrome usually takes place in patients with an advanced stage of carcinoid tumors. Carcinoid tumor is a type of rare tumors that occur in the small intestine, appendix, and lung. Moreover, it may grow in other organs of the body like ovaries. According to recent data, 40% of neuroendocrine tumors patients develop carcinoid syndrome …
Char syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by: Triad of patent ductus arteriosus (PDA) Typical facial features with depressed nasal bridge and broad flat nasal tip, widely spaced eyes, down slanted palpebral fissures. Aplasia or hypoplasia of the middle phalanges of the fifth fingers The incidence of Char syndrome is less …
Calciphylaxis is an uncommon, rare, serious, and fatal disorder that is characterized by: Calcification of the small blood vessels located within the fatty tissue and deeper layers of the skin. Blood clots formation. Death of skin cells due to too little blood flow. Recent studies estimated that the incidence of calciphylaxis is around 3.5 new …
What is Amyloidosis? An amyloidosis is a group of serious and rare diseases in which abnormal proteins, known as amyloid fibrils, build up in tissues and organs. Building up of these proteins leads to improper functionality of the organs and hence the failure. It results from abnormalities in plasma cells. Amyloidosis could be either genetic …
Sarcoidosis is a rare disease where inflamed cells clump together to make small lumps called granulomas which can develop in any part of the body. However, sarcoidosis is mainly found in the lungs (90%), and the lymph glands that drain the lungs. Additionally, it can affect other parts like the liver, nervous system, skin, eyes, …
What is Wilson’s disease? Wilson’s disease is a rare genetic autosomal disease. It occurs in approximately one in 30,000 to 40,000 people worldwide. Approximately one in 90 people may be carriers of the disease gene. It is caused by disruption or changes (mutations) of the ATP7B gene, which plays an important role in the movement …
Welcome to WordPress. This is your first post. Edit or del What is Alport syndrome? Alport syndrome is one of the rare genetic diseases that affect the kidney and may lead to kidney failure with time. Additionally, both the hearing and vision of patients will be impacted with time. It is considered rare since it …
