Diseases

Beriberi

Beriberi is a nervous system ailment caused by thiamine (vitamin B1) deficiency. Thiamine is involved in the breakdown of energy molecules such as glucose. It is also found on the membranes of neurons. Symptoms of beriberi include severe lethargy and fatigue, together with complications affecting the cardiovascular, nervous, muscular, and gastrointestinal systems.

Berlin Breakage syndrome

Nijmegen breakage syndrome (NBS) (also known as Berlin breakage syndrome and Seemanova syndrome) is a rare syndrome characterised by chromosomal instability, probably as a result of a defect in the Double Holliday junction DNA repair mechanism. The name derives from the Dutch city Nijmegen where the condition was first described.[1] Most people with NBS have West Slavic origins. The largest number of them live in Poland

Bernard-Soulier Disease (Giant Platelet Syndrome)

 

The Bernard-Soulier Syndrome (B-SS) is a rare inherited bleeding disorder caused by abnormal platelets and subsequent abnormal clotting. It is one of the giant platelet syndromes. This syndrome was originally described in 1948 by two physicians who were treating a patient with a bleeding problem. They discovered that this patient had a prolonged bleeding time, fewer platelets, and larger platelets than the normal individual. Since then, the platelet abnormality has been described and determined to be due to the platelets lacking the ability to stick adequately to injured blood-vessel walls. This is a crucial aspect of the process of forming a blood clot, and as a result of this problem, there is abnormal bleeding.

The Bernard-Soulier Syndrome (B-SS) is a rare inherited bleeding disorder caused by abnormal platelets and subsequent abnormal clotting. It is one of the giant platelet syndromes. This syndrome was originally described in 1948 by two physicians who were treating a patient with a bleeding problem. They discovered that this patient had a prolonged bleeding time, fewer platelets, and larger platelets than the normal individual. Since then, the platelet abnormality has been described and determined to be due to the platelets lacking the ability to stick adequately to injured blood-vessel walls. This is a crucial aspect of the process of forming a blood clot, and as a result of this problem, there is abnormal bleeding.

 

Berylliosis

Berylliosis or chronic beryllium disease (CBD) is an occupational lung disease. It is a chronic allergic-type lung response and chronic lung disease caused by exposure to beryllium and its compounds. The condition is incurable but symptoms can be treated

Best vitelliform macular dystrophy

Vitelliform macular dystrophy or vitelliform dystrophy is a genetic eye disorder that can cause progressive vision loss. This disorder affects the retina, specifically cells in a small area near the center of the retina called the macula. The macula is responsible for sharp central vision, which is needed for detailed tasks such as reading, driving, and recognizing faces

Best1 retinopathy

We describe a distinct retinal disorder, autosomal-recessive bestrophinopathy (ARB), that is consequent upon biallelic mutation in BEST1 and is associated with central visual loss, a characteristic retinopathy, an absent electro-oculogram light rise, and a reduced electroretinogram.

Beta ketothiolase deficiency

Beta-ketothiolase deficiency is a rare, autosomal recessive metabolic disorder in which the body cannot properly process the amino acid isoleucine or the products of lipid breakdown. The typical age of onset for this disorder is between 6 months and 24 months.

Beta-galactosidase-1 deficiency

A rare inherited biochemical disorder characterized by the accumulation of mucopolysaccharides (glycosaminoglycans) in various body tissues due to insufficient amounts of the enzyme (? galactosidase) needed to break it down.

Beta-sarcoglycanopathy

An autosomal recessive form of limb-girdle muscular dystrophy where muscle weakness and atrophy is caused by mutations of the beta-sarcoglycan gene. The severity of the condition is greatly variable from wheelchair confinement at the age of 9 years to asymptomatic adults. Most tend to live to their third decade.

Beta-thalassemia

Thalassemia is an inherited blood disorder that reduces the production of functional hemoglobin (the protein in red blood cells that carries oxygen). This causes a shortage of red blood cells and low levels of oxygen in the bloodstream, leading to a variety of health problems. There are two main types of thalassemia: alpha thalassemia and beta thalassemia.  
Beta thalassemia is caused by mutations in the HBB gene while alpha thalassemia is caused by mutations in the HBA1 and/or HBA2 genes. Both are inherited in an autosomal recessive manner. which means that two copies of the gene are necessary to produce the condition, one inherited from each parents. Treatment depends on the type and severity of the condition but may include blood transfusions and/or folic acid supplements. In people with beta thalassemia, low levels of hemoglobin lead to a lack of oxygen in many parts of the body. Affected individuals also have a shortage of red blood cells (anemia), which can cause pale skin, weakness, fatigue, and more serious complications. People with beta thalassemia are at an increased risk of developing abnormal blood clots.

While two genes are involved in making the beta hemoglobin chain. If you inherit:

  • One mutated gene, you'll have mild signs and symptoms. This condition is called beta-thalassemia minor or referred to as a beta-thalassemia trait.
  • Two mutated genes, your signs and symptoms will be moderate to severe. This condition is called beta-thalassemia major, which is also known as Cooley's anemia. Babies born with two defective beta hemoglobin genes usually are healthy at birth, but develop signs and symptoms within the first two years of life. A milder form, called beta-thalassemia intermedia, also may occur with two mutated genes.

Bethlem myopathy

Bethlem myopathy (also known as benign congenital muscular dystrophy or benign congenital myopathy with contractures) is a condition that mainly affects skeletal muscles, which are the muscles used for movement. People with this condition experience progressive muscle weakness and develop joint stiffness (contractures) in their fingers, wrists, elbows, and ankles that can restrict movement. Approximately two-thirds of people with Bethlem myopathy over age 50 will need to use a walker or wheelchair.

 

Source: Genetics Home Reference

 

Bhaskar Jagannathan syndrome

Bhaskar Jagannathan syndrome is an extremely rare genetic disorder that is characterized by the constellation of features like arachnodactyly, aminoaciduria, congenital cataracts, cerebellar ataxia, and delayed developmental milestones. When the entity was initially reported, the author raised the question if it could be a new cerebro-oculo-renal syndrome

Bidirectional tachycardia

Bidirectional tachycardia is an unusual tachyarrhythmia characterized by beat-to-beat alternation of the morphology and the axis of the QRS complexes seen in some of the electrocardiogram (EKG) leads. The usual ventricular rate in bidirectional tachycardia ranges from 140 to 180 bpm and can be regular or irregular

Biemond syndrome

Biemond syndrome type 2 (BS2) is classically regarded as a recessively inherited condition (MIM 210350) comprising mental retardation, coloboma, obesity, polydactyly, hypogonadism, hydrocephalus, and facial dysostosis. Clinically, the disorder is closely related to Bardet-Biedl syndrome.

Biemond syndrome type 1

A rare inherited condition characterized by mental retardation, finger and toe abnormalities, obesity and eye problems.

Biemond syndrome type 2

Biemond syndrome type 2: A rare inherited condition characterized by mental retardation, obesity, polydactyly and underdeveloped genitals.

Biermer disease

Biermer disease (medical condition): A rare blood disorder where the body is unable to utilize vitamin B12 properly in order to make red blood cells.

Bietti’s crystalline dystrophy

Bietti's crystalline dystrophy (BCD) is rare inherited eye disease characterized by crystals in the clear covering of the eye. Bietti's crystalline dystrophy is also called Bietti's crystalline corneoretinal dystrophy. It is named after Dr. G. B. Bietti, an Italian ophthalmologist, who described three patients with similar symptoms in 1937.

Bifid nose

Trigonocephaly - bifid nose - acral anomalies: A rare syndrome characterized mainly by a prominent triangular shaped forehead, short head, bulbous nose, small jaw, large mouth, poor muscle tone and foot abnormalities.

Bilateral Renal agenesis

A rare congenital malfromatin where the kidneys don't develop during the fetal stage resulting in insufficient amniotic fluid.

Bile Acid Synthesis

Bile Acid Synthesis Disorders due to single enzyme defects are a group of rare genetic disorders that affect the enzymes responsible for making normal, healthy bile acids. A mutation, or change, in one’s DNA prevents formation of normal bile acids and causes abnormal, toxic bile acids to build up. This disrupts bile production and flow from the liver to the small intestine. Individuals with BASD lack the ability to produce primary bile acids, cholic acid (CA) and chenodeoxycholic acid (CDCA), and as a result produce abnormal bile acids which are known to be toxic for the liver. There are 2 broad classes of Bile Acid Synthesis Disorder: single enzyme defects and peroxisomal disorders. Single enzyme defects affect specific enzymes involved in the synthesis of bile acids.

Various types of BASD are responsible for 1% to 3% of neonatal cholestasis. The estimated prevalence of neonatal cholestasis is estimated at about 1 in 2500 births. These disorders have a considerably different presentation than that of most other cholestatic diseases.

Bile duct cancer

Bile duct cancer ( also known as cholangiocarcinoma) is a form of cancer that is composed of mutated epithelial cells (or cells showing characteristics of epithelial differentiation) that originate in the bile ducts which drain bile from the liver into the small intestine. Other biliary tract cancers include gallbladder cancer and cancer of the ampulla of Vater.

Bile duct cancer is a relatively rare neoplasm that is classified as an adenocarcinoma (a cancer that forms glands or secretes significant amounts of mucins). It has an annual incidence rate of 1–2 cases per 100,000 in the Western world, but rates of cholangiocarcinoma have been rising worldwide over the past few decades.

Bile duct cysts

Bile duct cysts: The formation of a cyst (dilation or swelling) in the bile duct which can obstruct the flow of bile and result in jaundice.

Biliary atresia

Biliary atresia (extrahepatic ductopenia, progressive obliterative cholangiopathy), is a childhood disease of the liver in which one or more bile ducts are abnormally narrow, blocked, or absent. It can occur as a birth defect or as an acquired disease. As a birth defect in newborn infants, it has an incidence of one in 10,000 to 15,000 cases in live births in the United States, with the most accurate prevalence recorded at one in 16,700 in the British Isles. Biliary atresia is most common in East Asia, with a frequency of one in 5,000. In the congenital form, the common bile duct between the liver and the small intestine is either blocked or absent. The causes of biliary atresia are not well understood. Congenital biliary atresia has been associated with certain genes, while acquired biliary atresia is thought to be the result of an autoimmune inflammatory response, possibly to a viral infection of the liver soon after birth. The only effective treatments are certain surgeries such as the Kasai procedure and liver transplantation.