Your browser does not fully support modern features. Please upgrade for a smoother experience.
Subject:
All Disciplines Arts & Humanities Biology & Life Sciences Business & Economics Chemistry & Materials Science Computer Science & Mathematics Engineering Environmental & Earth Sciences Medicine & Pharmacology Physical Sciences Public Health & Healthcare Social Sciences
Sort by:
Most Viewed Latest Alphabetical (A-Z) Alphabetical (Z-A)
Filter:
All Topic Review Biography Peer Reviewed Entry Video Entry
Topic Review
Benign Recurrent Intrahepatic Cholestasis
Benign recurrent intrahepatic cholestasis (BRIC) is characterized by episodes of liver dysfunction called cholestasis. During these episodes, the liver cells have a reduced ability to release a digestive fluid called bile. Because the problems with bile release occur within the liver (intrahepatic), the condition is described as intrahepatic cholestasis. Episodes of cholestasis can last from weeks to months, and the time between episodes, during which there are usually no symptoms, can vary from weeks to years.
  • 892
  • 24 Dec 2020
Topic Review
TAP1 Gene
Transporter 1, ATP binding cassette subfamily B member: The TAP1 gene provides instructions for making a protein that plays an important role in the immune system. 
  • 891
  • 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.
  • 891
  • 24 Dec 2020
Topic Review
Autosomal Dominant Optic Atrophy/Cataract
Autosomal dominant optic atrophy and cataract is an eye disorder that is characterized by impaired vision. Most affected individuals have decreased sharpness of vision (visual acuity) from birth, while others begin to experience vision problems in early childhood or later. In affected individuals, both eyes are usually affected equally. However, the severity of the vision loss varies widely, even among affected members of the same family, ranging from nearly normal vision to complete blindness.
  • 891
  • 04 Jan 2021
Topic Review
Symptomatic Heterozygosity
As a rule of thumb, heterozygous carriers of variants associated with recessive diseases are asymptomatic. This can be confirmed by large population genetic studies and the asymptomatic status of heterozygous family members in segregation analyses. Symptomatic heterozygotes, defined as symptomatic carriers of a recessive autosomal disease, are individuals carrying only one copy of the pathogenic/likely pathogenic variant in biallelic autosomal Mendelian diseases. Considering the available literature, a symptomatic heterozygous status in autosomal diseases is extremely rare and has been based on case reports only, although some large studies have suggested an increased risk for some diseases among heterozygotes. Also, individuals who carry just one variant of the disease-causing gene and who display quite a severe phenotype are often not defined as symptomatic carriers per se; rather, they are classified as an example of a dominant inheritance with a milder disease form. Indeed, sometimes only a fine line exists between these two conditions. In addition, recent population studies investigating links between genetic variants and quantitative traits have shown a spectrum of subclinical phenotypes associated with heterozygosity in some disease variants. A broad range of intermediate subclinical phenotypes has suggested significant heterozygous phenotypic effects in some Mendelian biallelic diseases.
  • 891
  • 17 Aug 2023
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).
  • 890
  • 23 Dec 2020
Topic Review
TUBB2B Gene
Tubulin beta 2B class IIb.
  • 890
  • 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.
  • 890
  • 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.
  • 890
  • 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).
  • 890
  • 25 Dec 2020
Topic Review
MT-TE Gene
mitochondrially encoded tRNA glutamic acid
  • 889
  • 23 Dec 2020
Topic Review
C8B Gene
complement C8 beta chain
  • 889
  • 24 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).
  • 889
  • 23 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.
  • 889
  • 25 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.
  • 888
  • 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.
  • 888
  • 23 Dec 2020
Topic Review
COL17A1 Gene
collagen type XVII alpha 1 chain
  • 888
  • 24 Dec 2020
Topic Review
SCN4A Gene
sodium voltage-gated channel alpha subunit 4
  • 888
  • 24 Dec 2020
Topic Review
Frasier Syndrome
Frasier syndrome is a condition that affects the kidneys and genitalia.
  • 887
  • 25 Dec 2020
Topic Review
TNFRSF13B Gene
TNF receptor superfamily member 13B: The TNFRSF13B gene provides instructions for making a protein called TACI.
  • 887
  • 25 Dec 2020
  • Page
  • of
  • 135
Featured Entry Collections
>>

Featured Books

>>
Encyclopedia of Digital Society, Industry 5.0 and Smart City
Encyclopedia of Engineering
Encyclopedia of Social Sciences
Encyclopedia of COVID-19
Academic Video Service
Feedback