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
COL4A1-Related Brain Small-Vessel Disease
COL4A1-related brain small-vessel disease is part of a group of conditions called the COL4A1-related disorders. The conditions in this group have a range of signs and symptoms that involve fragile blood vessels. COL4A1-related brain small-vessel disease is characterized by weakening of the blood vessels in the brain. Stroke is often the first symptom of this condition, typically occurring in mid-adulthood. In affected individuals, stroke is usually caused by bleeding in the brain (hemorrhagic stroke) rather than a lack of blood flow in the brain (ischemic stroke), although either type can occur. Individuals with this condition are at increased risk of having more than one stroke in their lifetime. People with COL4A1-related brain small vessel disease also have leukoencephalopathy, which is a change in a type of brain tissue called white matter that can be seen with magnetic resonance imaging (MRI). Affected individuals may also experience seizures and migraine headaches accompanied by visual sensations known as auras.
  • 1.0K
  • 24 Dec 2020
Topic Review
Zellweger Spectrum Disorder
Zellweger spectrum disorder is a group of conditions that have overlapping signs and symptoms and affect many parts of the body.
  • 1.0K
  • 24 Dec 2020
Topic Review
Dilated Cardiomyopathy with Ataxia Syndrome
Dilated cardiomyopathy with ataxia (DCMA) syndrome is an inherited condition characterized by heart problems, movement difficulties, and other features affecting multiple body systems.
  • 1.0K
  • 24 Dec 2020
Topic Review
Task-specific Focal Dystonia
Task-specific focal dystonia is a movement disorder that interferes with the performance of particular tasks, such as writing, playing a musical instrument, or participating in a sport. Dystonias are a group of movement problems characterized by involuntary, sustained muscle contractions, tremors, and other uncontrolled movements. The term "focal" refers to a type of dystonia that affects a single part of the body, such as the hand or jaw.  
  • 1.0K
  • 23 Dec 2020
Topic Review
Alpers-Huttenlocher Syndrome
Alpers-Huttenlocher syndrome 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.
  • 1.0K
  • 24 Dec 2020
Topic Review
Ankyrin-B syndrome
Ankyrin-B syndrome is associated with a variety of heart problems related to disruption of the heart's normal rhythm (arrhythmia). Heart rhythm is controlled by electrical signals that move through the heart in a highly coordinated way. In ankyrin-B syndrome, disruption of different steps of electrical signaling can lead to arrhythmia, and the resulting heart problems vary among affected individuals.
  • 1.0K
  • 24 Dec 2020
Topic Review
BRCA2 Gene
BRCA2, DNA repair associated
  • 1.0K
  • 24 Dec 2020
Topic Review
ABL1 Gene
ABL proto-oncogene 1, non-receptor tyrosine kinase
  • 1.0K
  • 24 Dec 2020
Topic Review
Progressive Pseudorheumatoid Dysplasia
Progressive pseudorheumatoid dysplasia (PPRD) is a joint disease that worsens over time. This condition is characterized by breakdown (degeneration) of the cartilage between bones (articular cartilage). This cartilage covers and protects the ends of bones, and its degeneration leads to pain and stiffness in the joints and other features of PPRD.
  • 1.0K
  • 24 Dec 2020
Topic Review
Alagille Syndrome
Alagille syndrome is a genetic disorder that can affect the liver, heart, and other parts of the body.
  • 1.0K
  • 31 Dec 2020
Topic Review
EPAS1 Gene
Endothelial PAS domain protein 1
  • 1.0K
  • 24 Dec 2020
Topic Review
The Supersymmetry Genetic Code table
The full set of relationship between 61 codons and 3 stop signals that specify the 20 naturals amino acids is called the genetic code. The fundamental role of symmetry in the genetic code is to decrease disorder (entropy) between codons and to preserve the integrity of system during evolution.
  • 1.0K
  • 04 Feb 2024
Topic Review
Pyruvate Kinase Deficiency
Pyruvate kinase deficiency is an inherited disorder that affects red blood cells, which carry oxygen to the body's tissues.
  • 1.0K
  • 23 Mar 2021
Topic Review
Osteoglophonic Dysplasia
Osteoglophonic dysplasia is a condition characterized by abnormal bone growth that leads to severe head and face (craniofacial) abnormalities, dwarfism, and other features. The term osteoglophonic refers to the bones (osteo-) having distinctive hollowed out (-glophonic) areas that appear as holes on x-ray images.
  • 1.0K
  • 24 Dec 2020
Topic Review
X-linked Acrogigantism
X-linked acrogigantism (X-LAG) is a condition that causes abnormally fast growth beginning early in life. Babies with this condition are a normal size at birth but begin to grow rapidly in infancy or early childhood, and affected children are taller than their peers.  
  • 1.0K
  • 24 Dec 2020
Topic Review
X-linked Agammaglobulinemia
X-linked agammaglobulinemia (XLA) is a condition that affects the immune system and occurs almost exclusively in males.
  • 1.0K
  • 24 Dec 2020
Topic Review
PIGV Gene
phosphatidylinositol glycan anchor biosynthesis class V
  • 1.0K
  • 25 Dec 2020
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.
  • 1.0K
  • 17 Aug 2023
Topic Review
TUBB4A-related Leukodystrophy
TUBB4A-related leukodystrophy is a disorder that affects the nervous system. Leukodystrophies are conditions that involve abnormalities of the nervous system's white matter, which consists of nerve fibers covered by a fatty substance called myelin. Myelin insulates nerve fibers and promotes the rapid transmission of nerve impulses. In particular, TUBB4A-related leukodystrophy involves hypomyelination, which means that the nervous system has a reduced ability to form myelin. In some affected individuals, myelin may also break down, which is known as demyelination.  
  • 1.0K
  • 23 Dec 2020
Topic Review
Campomelic Dysplasia
Campomelic dysplasia is a severe disorder that affects development of the skeleton, reproductive system, and other parts of the body. This condition is often life-threatening in the newborn period.
  • 1.0K
  • 24 Dec 2020
  • Page
  • of
  • 135
Featured Entry Collections
>>

Featured Reprints

>>
Encyclopedia of Digital Society, Industry 5.0 and Smart City
Encyclopedia of Engineering
Encyclopedia of Social Sciences
Encyclopedia of Medieval Royal Iconography
Academic Video Service
Feedback