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Chylomicron retention disease is a disorder of fat absorption. It is associated with SAR1B. Mutations in SAR1B prevent the release of chylomicrons in the circulation which leads to nutritional and developmental problems. It is a rare autosomal recessive disorder with around 40 cases reported worldwide. Since the disease allele is recessive, parents usually do not show symptoms. Without functional chylomicrons, certain fat-soluble vitamins such as vitamin D and vitamin E cannot be absorbed. Chylomicrons have a crucial role in fat absorption and transport, thus a deficiency in chylomicron functioning reduces available levels of dietary fats and fat-soluble vitamins.
Medical condition |
Pioglitazone/metformin, sold under the brand name Actoplus Met among others, is a fixed-dose combination anti-diabetic medication used to improve glycemic control in adults with type 2 diabetes. It contains pioglitazone, a thiazolidinedione, and metformin, a biguanide.
Combination drug |
Phenylethanolamine N-methyltransferase (PNMT) is an enzyme found primarily in the adrenal medulla that converts norepinephrine (noradrenaline) to epinephrine (adrenaline). It is also expressed in small groups of neurons in the human brain and in selected populations of cardiomyocytes.
Mammalian protein found in Homo sapiens |
Clostridium perfringens alpha toxin is a toxin produced by the bacterium Clostridium perfringens and is responsible for gas gangrene and myonecrosis in infected tissues. The toxin also possesses hemolytic activity.
Toxin produced by the bacterium Clostridium perfringens |
Ramos-Arroyo syndrome is marked by corneal anesthesia, absence of the peripapillary choriocapillaris and retinal pigment epithelium, bilateral sensorineural hearing loss, unusual facial appearance, persistent ductus arteriosus, Hirschsprung disease, and moderate intellectual disability. It appears to be a distinct autosomal dominant syndrome with variable expressivity. As of 2008 this syndrome has only been reported in five individuals within three generations of the same family; two young children, their mother, their uncle and their maternal grandmother. This most recent generation to be diagnosed with Ramos-Arroyo syndrome supports the hypothesis that this disease is a distinct autosomal
dominant disorder. If this syndrome could be identified in other families it may help to discriminate the gene responsible.
Medical condition |
Birk-Barel syndrome is a rare genetic disorder associated with the KCNK9 gene. Signs and symptoms include mental retardation, hypotonia, hyperactivity, and syndromic facies. Due to imprinting, mutations in the maternal copy of KCNK9 cause the condition, while mutations in the paternal copy do not. As such, this condition can only be inherited from the mother. The Inhibition of histone deacetylation rescues phenotype in a mouse model of Birk-Barel intellectual disability syndrome.
Medical condition |
Coccidiosis is a parasitic disease of the intestinal tract of animals caused by coccidian protozoa. The disease spreads from one animal to another by contact with infected feces or ingestion of infected tissue. Diarrhea, which may become bloody in severe cases, is the primary symptom. Most animals infected with coccidia are asymptomatic, but young or immunocompromised animals may suffer severe symptoms and death. While coccidia can infect a wide variety of animals, including humans, birds, and livestock, they are usually species-specific. One well-known exception is toxoplasmosis caused by Toxoplasma gondii. Humans may first encounter coccidia when they acquire a dog, cat or bird that is infected. Other than T. gondii, the infectious organisms are canine and feline-specific and are not contagious to humans, unlike the zoonotic diseases.
Parasitic disease of animals |
Cranio-lenticulo-sutural dysplasia is a neonatal/infancy disease caused by a disorder in the 14th chromosome. It is an autosomal recessive disorder, meaning that both recessive genes must be inherited from each parent in order for the disease to manifest itself. The disease causes a significant dilation of the endoplasmic reticulum in fibroblasts of the host with CLSD. Due to the distension of the endoplasmic reticulum, export of proteins from the cell is disrupted. The production of SEC23A protein is involved in the pathway of exporting collagen, but a missense mutation causes and underproduction of SEC23A which inhibits the pathway, affecting collagen secretion. This decrease in collagen secretion can lead to the bone defects that are also characteristic of the disease, such as skeletal dysplasia and under-ossification. Decreased collagen in CLSD-affected individuals contributes to improper bone formation, because collagen is a major protein in the extracellular matrix and contributes to its proper mineralization in bones. It has also been hypothesized that there are other defects in the genetic code besides SEC23A that contribute to the disorder.
Medical condition |
24-Dehydrocholesterol reductase is a protein that in humans is encoded by the DHCR24 gene. This gene encodes a flavin adenine dinucleotide (FAD)-dependent oxidoreductase, which catalyzes the reduction of the delta-24 double bond of sterol intermediates during cholesterol biosynthesis. The protein contains a leader sequence that directs it to the endoplasmic reticulum membrane. Missense mutations in this gene have been associated with desmosterolosis. Also, reduced expression of the gene occurs in the temporal cortex of Alzheimer disease patients and overexpression has been observed in adrenal gland cancer cells.
Mammalian protein found in Homo sapiens |
Cytoglobin is the protein product of CYGB, a human and mammalian gene. Cytoglobin is a globin molecule ubiquitously expressed in all tissues and most notably utilized in marine mammals. It was discovered in 2001 and named cytoglobin in 2002. It is thought to protect against hypoxia. The predicted function of cytoglobin is the transfer of oxygen from arterial blood to the brain.
Mammalian protein found in Homo sapiens |
Adenylate kinase 2 is an enzyme that is encoded in humans by the AK2 gene. The AK2 protein is found in the intermembrane space of the mitochondrion.
Mammalian protein found in Homo sapiens |
Schimke syndrome is a rare autosomal recessive disorder. The disorder was first described in 1971 by Schimke.
Medical condition |
Clipping is a surgical procedure performed to treat an aneurysm. If the aneurysm is intracranial, a craniotomy is performed, and afterwards an Elgiloy (Phynox) or titanium Sugita clip is affixed around the aneurysm's neck. Surgical clipping was introduced by Walter Dandy of the Johns Hopkins Hospital in 1937. It consists of performing a craniotomy, exposing the aneurysm, and closing the base of the aneurysm with a clip chosen specifically for the site. The surgical technique has been modified and improved over the years. Surgical clipping has a lower rate of aneurysm recurrence after treatment. Titanium Aneurysm Clips are being used to clip aneurysms and the procedure is known as aneurysm clipping. |
Lateral meningocele syndrome, also known as Lehman syndrome, is a very rare skeletal disorder with facial anomalies, hypotonia, and meningocele-related neurologic dysfunction. These protrusions form from membranes surrounding the spinal cord in gaps in the spine (vertebrae). They most often occur in the lower spine and damage the surrounding nerves that spread throughout the rest of the body. Examples of resulting damages are bladder function, prickling or tingling sensations, stiffness and weakness in the legs, and back pain. People affected with lateral meningocele typically have high arched eyebrows, widely spaced eyes, droopy eyes, and other facial features. There have been only 14 reported individuals with lateral meningocele syndrome with 7 of those who have a molecularly confirmed diagnosis. There is no specific treatment for this syndrome, but only supportive management including lateral spinal meningoceles, psychomotor development, musculoskeletal, and routine management.
Medical condition |
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