Ion-channel gene defects are associated with a range of paroxysmal disorders, including several monogenic epilepsy syndromes. Two autosomal dominant disorders present in the first year of life: benign familial neonatal seizures, which is associated with potassium-channel gene defects; and benign familial infantile seizures, for which no genes have been identified
A rare dominantly inherited form of seizures that occurs during the first year of life. The seizures tend to occur in clusters. The seizures involved limb twitching, averted head, eye-blinking and lip smacking. No neurological or developmental problems are associated with this disorder.
Phenylalanine is an essential amino acid, one of the building blocks of protein that we need in our diets. Extra phenylalanine that we eat or drink is normally broken down by a specific enzyme and its cofactor.
Cutaneous T-cell lymphoma, also known as mycosis fungoides, is a malignancy of the T helper (CD4+) cells. Diagnosis is difficult early in the course of this disease because it mimics several benign skin disorders, including eczema, psoriasis and contact dermatitis. Cutaneous T-cell lymphoma is also difficult to identify histologically, and multiple biopsies may be necessary to confirm the diagnosis.
A rare chronic disease involving blistering and scarring of the mucous membranes especially in the mouth and conjunctiva of the eye.
In Benign Paroxysmal Positional Vertigo (BPPV) dizziness is thought to be due to debris which has collected within a part of the inner ear. This debris can be thought of as "ear rocks", although the formal name is "otoconia". Ear rocks are small crystals of calcium carbonate derived from a structure in the ear called the "utricle"
It is common, mild form of childhood epilepsy characterized by brief simple partial seizures involving the face and mouth, usually occurring at night or during the early morning hours. Seizures are the result of brief disruptions in the brain's normal neuronal activity.
A rare syndrome characterized mainly by the association of undescended testes, long thin fingers and mental retardation.
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.
A rare condition characterized by eye and skeletal problems
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
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.
A very rare syndrome characterized primarily by brain aneurysms, liver cirrhosis, pulmonary emphysema and calcification of the brain (cerebrum).
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
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
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 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.
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.
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.
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:
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 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 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 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.
A rare inherited condition characterized by mental retardation, finger and toe abnormalities, obesity and eye problems.
Biemond syndrome type 2: A rare inherited condition characterized by mental retardation, obesity, polydactyly and underdeveloped genitals.
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 (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.
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.