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Topic Review
Manitoba Oculotrichoanal Syndrome
Manitoba oculotrichoanal syndrome is a condition involving several characteristic physical features, particularly affecting the eyes (oculo-), hair (tricho-), and anus (-anal).
  • 885
  • 23 Dec 2020
Topic Review
Acute Necrotizing Encephalopathy Type 1
Acute necrotizing encephalopathy type 1, also known as susceptibility to infection-induced acute encephalopathy 3 or IIAE3, is a rare type of brain disease (encephalopathy) that occurs following a viral infection such as the flu.
  • 885
  • 23 Dec 2020
Topic Review
Anencephaly
Anencephaly is a condition that prevents the normal development of the brain and the bones of the skull. This condition results when a structure called the neural tube fails to close during the first few weeks of embryonic development. The neural tube is a layer of cells that ultimately develops into the brain and spinal cord. Because anencephaly is caused by abnormalities of the neural tube, it is classified as a neural tube defect.
  • 885
  • 24 Dec 2020
Topic Review
SCN4A Gene
sodium voltage-gated channel alpha subunit 4
  • 885
  • 24 Dec 2020
Topic Review
Complement Component 2 Deficiency
Complement component 2 deficiency is a disorder that causes the immune system to malfunction, resulting in a form of immunodeficiency. Immunodeficiencies are conditions in which the immune system is not able to protect the body effectively from foreign invaders such as bacteria and viruses.
  • 885
  • 24 Dec 2020
Topic Review
COL17A1 Gene
collagen type XVII alpha 1 chain
  • 885
  • 24 Dec 2020
Topic Review
Polycystic Kidney Disease
Polycystic kidney disease is a disorder that affects the kidneys and other organs. Clusters of fluid-filled sacs, called cysts, develop in the kidneys and interfere with their ability to filter waste products from the blood. The growth of cysts causes the kidneys to become enlarged and can lead to kidney failure. Cysts may also develop in other organs, particularly the liver.
  • 885
  • 24 Dec 2020
Topic Review
Short QT Syndrome
Short QT syndrome is a condition that can cause a disruption of the heart's normal rhythm (arrhythmia).
  • 885
  • 25 Dec 2020
Topic Review
Sotos Syndrome
Sotos syndrome is a disorder characterized by a distinctive facial appearance, overgrowth in childhood, and learning disabilities or delayed development of mental and movement abilities. Characteristic facial features include a long, narrow face; a high forehead; flushed (reddened) cheeks; and a small, pointed chin. In addition, the outside corners of the eyes may point downward (down-slanting palpebral fissures). This facial appearance is most notable in early childhood. Affected infants and children tend to grow quickly; they are significantly taller than their siblings and peers and have an unusually large head. However, adult height is usually in the normal range.
  • 884
  • 23 Dec 2020
Topic Review
C8B Gene
complement C8 beta chain
  • 884
  • 24 Dec 2020
Topic Review
Peroxisomal Acyl-CoA Oxidase Deficiency
Peroxisomal acyl-CoA oxidase deficiency is a disorder that causes deterioration of nervous system functions (neurodegeneration) beginning in infancy.
  • 883
  • 24 Dec 2020
Topic Review
FLCN Gene
Folliculin
  • 883
  • 25 Dec 2020
Topic Review
TNFRSF13B Gene
TNF receptor superfamily member 13B: The TNFRSF13B gene provides instructions for making a protein called TACI.
  • 883
  • 25 Dec 2020
Topic Review
TUBB2B Gene
Tubulin beta 2B class IIb.
  • 882
  • 23 Dec 2020
Topic Review
3-hydroxy-3-methylglutaryl-CoA Lyase Deficiency
3-hydroxy-3-methylglutaryl-CoA lyase deficiency (also known as HMG-CoA lyase deficiency) is an uncommon inherited disorder in which the body cannot process a particular protein building block (amino acid) called leucine. Additionally, the disorder prevents the body from making ketones, which are compounds that are used for energy during periods without food (fasting).
  • 882
  • 23 Dec 2020
Topic Review
Mowat-Wilson Syndrome
Mowat-Wilson syndrome is a genetic condition that affects many parts of the body. Major signs of this disorder frequently include distinctive facial features, intellectual disability, delayed development, an intestinal disorder called Hirschsprung disease, and other birth defects.
  • 882
  • 23 Dec 2020
Topic Review
Biotinidase Deficiency
Biotinidase deficiency is an inherited disorder in which the body is unable to recycle the vitamin biotin. If this condition is not recognized and treated, its signs and symptoms typically appear within the first few months of life, although it can also become apparent later in childhood.
  • 882
  • 24 Dec 2020
Topic Review
Pol III-Related Leukodystrophy
Pol III-related leukodystrophy is a disorder that affects the nervous system and other parts of the body. Leukodystrophies are conditions that involve abnormalities of the nervous system's white matter, which consists of nerve cells (neurons) covered by a fatty substance called myelin. Myelin insulates nerve fibers and promotes the rapid transmission of nerve impulses.
  • 882
  • 24 Dec 2020
Topic Review
FLI1 Gene
Fli-1 proto-oncogene, ETS transcription factor
  • 882
  • 25 Dec 2020
Topic Review
Familial Adenomatous Polyposis
Familial adenomatous polyposis (FAP) is an inherited disorder characterized by cancer of the large intestine (colon) and rectum. People with the classic type of familial adenomatous polyposis may begin to develop multiple noncancerous (benign) growths (polyps) in the colon as early as their teenage years. Unless the colon is removed, these polyps will become malignant (cancerous). The average age at which an individual develops colon cancer in classic familial adenomatous polyposis is 39 years. Some people have a variant of the disorder, called attenuated familial adenomatous polyposis, in which polyp growth is delayed. The average age of colorectal cancer onset for attenuated familial adenomatous polyposis is 55 years.
  • 882
  • 25 Dec 2020
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