Diseases

Alopecia universalis

Alopecia universalis is a condition characterized by the complete loss of hair on the scalp and body. It is an advanced form of alopecia areata, a condition that causes round patches of hair loss. Although the exact cause of AU is unknown, it is thought to be an autoimmune condition in which an affected person's immune system mistakenly attacks the hair follicles. Roughly 20% of affected people have a family member with alopecia, suggesting that genetic factors may contribute to the development of AU. There is currently no cure for AU, but sometimes hair regrowth occurs on it's own, even after many years. Alopecia universalis can occur at any age, and is currently believed to be an autoimmune disorder. 

Alpers syndrome

Mitochondrial DNA depletion syndrome-4A, also known as Alpers syndrome, is an autosomal recessive disorder characterized by a clinical triad of psychomotor retardation, intractable epilepsy, and liver failure in infants and young children. Pathologic findings include neuronal loss in the cerebral gray matter with reactive astrocytosis and liver cirrhosis. It is a progressive degenerative disease of the central nervous system that occurs mostly in infants and children. It often leads to death from hepatic failure or status epilepticus before age 3 years.

Alpers-Huttenlocher syndrome: It is one of the most severe of a group of conditions called the POLG-related disorders. The conditions in this group feature a range of similar signs and symptoms involving muscle-, nerve-, and brain-related functions. Alpers-Huttenlocher syndrome typically becomes apparent in children between ages 2 and 4. People with this condition usually have three characteristic features: recurrent seizures that do not improve with treatment (intractable epilepsy), loss of mental and movement abilities (psychomotor regression), and liver disease.

Alpha-1 antitrypsin deficiency

Alpha 1-antitrypsin deficiency is a genetic disorder that causes defective production of alpha 1-antitrypsin (A1AT), leading to decreased A1AT activity in the blood and lungs, and deposition of excessive abnormal A1AT protein in liver cells. There are several forms and degrees of deficiency; the form and degree depend on whether the sufferer has one or two copies of the defective allele because it is a co-dominant trait. Severe A1AT deficiency causes panacinar emphysema or COPD in adult life in many people with the condition (especially if they are exposed to cigarette smoke). The disorder can lead to various liver diseases in a minority of children and adults, and occasionally more unusual problems. It is treated through avoidance of damaging inhalants and, in severe cases, by intravenous infusions of the A1AT protein or by transplantation of the liver or lungs. It usually produces some degree of disability and reduces life expectancy.

Alpha-2 deficient collagen disease

Alpha-2 Deficient Collagen Disease has symptoms including autosomal recessive inheritance, arachnodactyly and disproportionate tall stature.

Alpha-ketoglutarate dehydrogenase deficiency

A metabolic disorder characterized by a deficiency of Alpha-ketoglutarate dehydrogenase which results in high levels of oxoglutaric acid in the urine as well as other severe symptoms.

Alpha-mannosidosis

Alpha-mannosidosis is a rare inherited disorder that causes problems in many organs and tissues of the body. Affected individuals may have intellectual disability, distinctive facial features, and skeletal abnormalities. Alpha-mannosidosis is estimated to occur in approximately 1 in 500,000 people worldwide. This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

Characteristic facial features can include a large head, prominent forehead, low hairline, rounded eyebrows, large ears, flattened bridge of the nose, protruding jaw, widely spaced teeth, overgrown gums, and large tongue. The skeletal abnormalities that can occur in this disorder include reduced bone density (osteopenia), thickening of the bones at the top of the skull (calvaria), deformations of the bones in the spine (vertebrae), bowed legs or knock knees, and deterioration of the bones and joints.

Affected individuals may also experience difficulty in coordinating movements (ataxia); muscle weakness (myopathy); delay in developing motor skills such as sitting and walking; speech impairments; increased risk of infections; enlargement of the liver and spleen (hepatosplenomegaly); a buildup of fluid in the brain (hydrocephalus); hearing loss; and a clouding of the lens of the eye (cataract). Some people with alpha-mannosidosis experience psychiatric symptoms such as depression, anxiety, or hallucinations; episodes of psychiatric disturbance may be triggered by stressors such as having undergone surgery, emotional upset, or changes in routine.

Alpha-mannosidosis- type 2

Alpha mannosidosis type 2 is a lysosomal storage disorder and it is rare inherited metabolic disorder involving a deficiency of an enzyme (alpha-mannosidosase) which results in the accumulation of certain chemicals in the body which leads to progressive damage. This form of the condition is less severe than type I (infantile form). Signs and symptoms develop as a result of the toxic build-up of sugars (i.e., mannose-containing oligosaccharides) in the cells of the body. People with this disorder tend to develop bone abnormalities and muscle weakness by age 10.

Alpha-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.

Alpha-thalassemia has two types that can cause health problems: the more severe type is known as Hb Bart syndrome; the milder form is called HbH disease. Hb Bart syndrome may be characterized by hydrops fetalis; severe anemia; hepatosplenomegaly; heart defects; and abnormalities of the urinary system or genitalia. Most babies with this condition are stillborn or die soon after birth. HbH disease may cause mild to moderate anemia; hepatosplenomegaly; jaundice; or bone changes. No treatment is effective for Hb Bart syndrome. For HbH disease, occasional red blood cell transfusions may be needed.
Alpha-thalassemia typically results from deletions involving the HBA1 and HBA2 genes.  Four genes are involved in making the alpha hemoglobin chain. You get two from each of your parents. If you inherit:

  • One mutated gene, you'll have no signs or symptoms of thalassemia. But, you are a carrier of the disease and can pass it on to your children.
  • Two mutated genes, your thalassemia signs and symptoms will be mild. This condition may be called alpha-thalassemia minor, or you may be told you have an alpha-thalassemia trait.
  • Three mutated genes, your signs and symptoms will be moderate to severe. This condition is also called hemoglobin H disease.
  • Four mutated genes, the condition is called alpha-thalassemia major or hydrops fetalis. It usually causes a fetus to die before delivery or a newborn to die shortly after birth.

Alpha-thalassemia x-linked intellectual disability syndrome

Alpha thalassemia X-linked intellectual disability syndrome is an inherited disorder that affects many parts of the body. This condition occurs almost exclusively in males.

Males with alpha thalassemia X-linked intellectual disability syndrome have intellectual disability and delayed development. Their speech is significantly delayed, and most never speak or sign more than a few words. Most affected children have weak muscle tone (hypotonia), which delays motor skills such as sitting, standing, and walking. Some people with this disorder are never able to walk independently.
Almost everyone with alpha thalassemia X-linked intellectual disability syndrome has distinctive facial features, including widely spaced eyes, a small nose with upturned nostrils, and low-set ears. The upper lip is shaped like an upside-down "V," and the lower lip tends to be prominent. These facial characteristics are most apparent in early childhood. Over time, the facial features become coarser, including a flatter face with a shortened nose.

Most affected individuals have mild signs of a blood disorder called alpha thalassemia. This disorder reduces the production of hemoglobin, which is the protein in red blood cells that carries oxygen to cells throughout the body. A reduction in the amount of hemoglobin prevents enough oxygen from reaching the body's tissues. Rarely, affected individuals also have a shortage of red blood cells (anemia), which can cause pale skin, weakness, and fatigue.

Additional features of alpha thalassemia X-linked intellectual disability syndrome include an unusually small head size (microcephaly), short stature, and skeletal abnormalities. Many affected individuals have problems with the digestive system, such as a backflow of stomach acids into the esophagus (gastroesophageal reflux) and chronic constipation. Genital abnormalities are also common; affected males may have undescended testes and the opening of the urethra on the underside of the penis (hypospadias). In more severe cases, the external genitalia do not look clearly male or female (ambiguous genitalia).

Alport syndrome

Alport syndrome is a genetic disorder characterized by glomerulonephritis, end-stage kidney disease, and hearing loss. Alport syndrome can also affect the eyes, causing eye abnormalities including cataracts, lenticonus, kerataconus, as well as retinal flecks in the macula and mid-periphery. Visibly bloody urine and protein in the urine are common features of this condition.

Alsing syndrome

A rare syndrome characterized mainly by kidney problems, skeletal abnormalities and a hole in the coloboma of the eye.

Alström syndrome

Alström syndrome is a rare genetic disorder caused by mutations in the gene ALMS1. It is among the rarest genetic disorders in the world, as currently it has only 266 reported cases in medical literature and over 501 known cases in 47 countries. It was first described by Carl-Henry Alström in Sweden in 1959. Alstrom syndrome is sometimes confused with Bardet-Biedl syndrome, which has similar symptoms. Bardet-Biedl syndrome tends to have later onset in its symptoms. The risk where two carrier parents can both pass the gene and therefore have a child affected by the syndrome is 25% with each pregnancy. The risk to have a child who is the carrier of the gene like the parents is 50% with each pregnancy. A chance for a child to receive normal genes from both parents and be considered to be "genetically" normal is 25%. The risk for carrying the gene is equivalent for both male and female.

Alternating hemiplegia of childhood

Alternating hemiplegia of childhood is a rare neurological disorder of uncertain etiology, though growing evidence strongly supports mutation of the ATP1A3 gene as the primary cause of this disease. AHC is named for the transient episodes, often referred to as attacks or episodes, of hemiplegia from which those with the disorder suffer. These hemiplegic attacks can cause anything from mild weakness to complete paralysis on one or both sides of the body, and they can vary greatly in duration. Attacks may also alternate from one side of the body to the other, or alternate between affecting one or both sides during a single attack. AHC is associated with many symptoms besides hemiplegia, and the majority of these become apparent in early infancy. AHC typically presents before the age of 18 months. Normally, hemiplegia and other associated symptoms cease completely with sleep, but they may recur upon waking.The disorder was only recently discovered, having first been characterized in 1971. AHC is also extremely rare – approximately 1 in 1,000,000 people have this disorder. Besides hemiplegia, symptoms of the disorder include an extremely broad range of neurological and developmental impairments which are not well understood. Much of the literature about AHC is purposefully vague in this respect due to a lack of information on the disorder.

Aluminium lung

A respiratory condition caused by breathing in aluminium containing substances such as aluminium ore or a grain preservative called aluminium phosphide. It is also called Pneumoconiosis, which is an occupational lung disease and a restrictive lung disease caused by the inhalation of dust, often in mines. In 2013 it resulted in 260,000 deaths up from 251,000 deaths in 1990. Of these deaths 46,000 were due to silicosis, 24,000 due to asbestosis and 25,000 due to coal workers pneumoconiosis.

Depending upon the type of dust, the disease is given different names:

  • Coal worker's pneumoconiosis (also known as miner's lung, black lung or anthracosis) — coal, carbon
  • Asbestosis — asbestos
  • Silicosis (also known as "grinder's disease" or Potter's rot) — silica
  • Bauxite fibrosis — bauxite
  • Berylliosis — beryllium
  • Siderosis — iron
  • Byssinosis — cotton
  • Silicosiderosis — mixed dust containing silica and iron
  • Labrador lung (found in miners in Labrador, Canada) — mixed dust containing iron, silica and anthophyllite, a type of asbestos
  • Stannosis — tin oxide
  • Pneumoconiosis induced with the ash from the explosive volcano

Alveolar capillary dysplasia

Alveolar Capillary Dysplasia (ACD) is a lethal developmental anomaly of the pulmonary vasculature: it is generally described as the failure of formation of the normal air-blood diffusion barrier in the newborn lung. Alveolar Capillary Dysplasia is usually associated with "misalignment" of the pulmonary veins.

Alveolar echinococcosis

Alveolar echinococcosis (AE) disease results from being infected with the larval stage of Echinococcus multilocularis, a microscopic tapeworm (1-4 millimeters) found in foxes, coyotes, dogs, and cats. Although human cases are rare, infection in humans causes parasitic tumors to form in the liver, and, less commonly, the lungs, brain, and other organs. It is also still a serious disease that not only has a significantly high fatality rate but also has the potential to become an emerging disease in many countries. If left untreated, infection with AE can be fatal.

AE is caused by tumor-like or cyst-like tapeworm larvae growing in the body. AE usually involves the liver, but can spread to other organs of the body. Because the cysts are slow-growing, infection with AE may not produce any symptoms for many years.

Alveolar soft part sarcoma

Alveolar soft part sarcoma (ASPS) is a rare slow-growing malignant connective tissue tumor. It is a type of Soft tissue sarcoma that hat begins in the soft tissues of your body. 

ASPA (tumors) occur most frequently in the arms and legs. The deep soft tissue of the thigh, tongue, eye orbit, and head and neck regions are also common sites. Metastasis is frequent with lung and brain being most common metastatic sites. Symptoms are determined by the location, size and stage of the tumor.

In ASPS it  indicates that this cancer initially arises from tissue of embryonic mesenchymal origin. (The fertilized egg divides and redivides forming a sphere. Early in embryogenesis, dimples appear in the poles of the sphere and burrow through the sphere forming an inner passage that will ultimately form the gut. Malignancies arising from cells that were originally part of the outer layer of the sphere and those that were part of the embryonic tunnel are termed carcinomas; malignancies arising from the cells between the outer layer and the inner burrow are termed sarcomas.) Typically, ASPS arises in muscles and deep soft tissue of the thigh or the leg (lower extremities), but can also appear in the upper extremities (hands, neck, and head). While ASPS is a soft tissue sarcoma, it can also spread and grow inside the bones.

The term alveolar comes from the microscopic pattern, visible during the analysis of slides of ASPS under the microscope in histopathology. The tumor cells seem to be arranged in the same pattern as the cells of the small air sacks (alveoli) in the lungs. However, this is just a structural similarity. ASPS was first described and characterized in 1952.

Alveolitis- extrinsic allergic

Extrinsic allergic alveolitis is a lung disorder resulting from repeated inhalation of organic dust, usually in a specific occupational setting. In the acute form, respiratory symptoms and fever begin several hours after exposure to the dust. The chronic form is characterized by gradual changes in the lung tissue associated with several years of exposure to the irritant.

Alzheimer disease type 3

A degenerative brain disease characterized primarily by progressive dementia. Type 3 has an early onset (starts before the age of 65). It is caused by mutations in the PSEN1 gene which results in the production of a toxic protein (amyloid beta peptide) in the brain which collects into clumps (amyloid plaques) in the brain. These plaques cause damage to nerve cells in the brain.

Alzheimer disease type 1

A degenerative brain disease characterized primarily by progressive dementia. Type 1 has an early onset (starts before the age of 65). It is caused by mutations in the APP gene which results in the production of a toxic protein (amyloid beta peptide) in the brain which collects into clumps (amyloid plaques) in the brain. These plaques cause damage to nerve cells in the brain.

Alzheimer disease type 2

A degenerative brain disease characterized primarily by progressive dementia. Type 2 has a late onset - starts after the age of 65. In general, Alzheimer disease (AD) is a degenerative disease of the brain that causes gradual loss of memory, judgment and the ability to function socially. It is believed to be caused by a combination of genetic mutations and environmental and lifestyle factors. The condition occurs when there is excessive production of a toxic protein (amyloid beta peptide) in the brain which collects into clumps (amyloid plaques) in the brain. These plaques cause damage to nerve cells in the brain.

Alzheimer disease type 4

A degenerative brain disease characterized primarily by progressive dementia. Type 4 has an early onset (starts before the age of 65). It is caused by mutations in the PSEN2 gene which results in the production of a toxic protein (amyloid beta peptide) in the brain which collects into clumps (amyloid plaques) in the brain. These plaques cause damage to nerve cells in the brain.