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Topic Review
Aceruloplasminemia
Aceruloplasminemia is a disorder in which iron gradually accumulates in the brain and other organs. Iron accumulation in the brain results in neurological problems that generally appear in adulthood and worsen over time.
  • 1.0K
  • 23 Dec 2020
Topic Review
Central Precocious Puberty
Central precocious puberty is a condition that causes early sexual development in girls and boys.
  • 1.0K
  • 20 Apr 2023
Topic Review
Seasonal Affective Disorder
Seasonal affective disorder is a mental health condition that is triggered by the changing of the seasons.
  • 1.0K
  • 24 Dec 2020
Topic Review
GCK Gene
Glucokinase
  • 1.0K
  • 25 Dec 2020
Topic Review
Horner Syndrome
Horner syndrome is a disorder that affects the eye and surrounding tissues on one side of the face and results from paralysis of certain nerves.
  • 999
  • 23 Dec 2020
Topic Review
Lynch Syndrome (Hereditary Nonpolyposis Colorectal Cancer)
Lynch syndrome (LS), also known as hereditary nonpolyposis colorectal cancer (HNPCC), is an autosomal dominant genetic disorder associated with an increased lifetime risk of developing colorectal cancer (CRC) (30–73%), endometrial carcinoma (EC) (30–51%) and, less frequently, other malignancies such as gastric, ovarian, urinary tract, pancreatic, small bowel, biliary tract, brain, and skin sebaceous cancers.
  • 999
  • 27 Mar 2023
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.
  • 998
  • 24 Dec 2020
Topic Review
Constitutional Mismatch Repair Deficiency Syndrome
Constitutional mismatch repair deficiency (CMMRD) syndrome is a rare disorder that greatly increases the risk of developing one or more types of cancer in children and young adults. The cancers that most commonly occur in CMMRD syndrome are cancers of the colon (large intestine) and rectum (collectively referred to as colorectal cancer), brain, and blood (leukemia or lymphoma).
  • 997
  • 24 Dec 2020
Topic Review
BRCA2 Gene
BRCA2, DNA repair associated
  • 997
  • 24 Dec 2020
Topic Review
EPAS1 Gene
Endothelial PAS domain protein 1
  • 997
  • 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.
  • 997
  • 24 Dec 2020
Topic Review
POGZ Gene
pogo transposable element derived with ZNF domain
  • 997
  • 25 Dec 2020
Topic Review
PWS-Associated Genes, Their Imprinting, and Expression Pattern
Prader–Willi syndrome (PWS, OMIM #176270) and Schaaf–Yang syndrome (SYS, OMIM #615547) are rare autosomal-dominant, imprinted genetic disorders caused by the loss of one or more normally active paternal genes in the chromosomal region of 15q11-q13, called the PWS region.
  • 997
  • 31 Aug 2023
Topic Review
X-linked Agammaglobulinemia
X-linked agammaglobulinemia (XLA) is a condition that affects the immune system and occurs almost exclusively in males.
  • 996
  • 24 Dec 2020
Topic Review
ABL1 Gene
ABL proto-oncogene 1, non-receptor tyrosine kinase
  • 996
  • 24 Dec 2020
Topic Review
Schizoaffective Disorder
Schizoaffective disorder is a mental health condition that includes features of both schizophrenia and a mood disorder such as bipolar disorder or depression.
  • 996
  • 24 Dec 2020
Topic Review
Epidermolytic Hyperkeratosis
Epidermolytic hyperkeratosis is a skin disorder that is present at birth. Affected babies may have very red skin (erythroderma) and severe blisters. Because newborns with this disorder are missing the protection provided by normal skin, they are at risk of becoming dehydrated and developing infections in the skin or throughout the body (sepsis).
  • 996
  • 25 Dec 2020
Topic Review
Gene Therapy for Corneal Diseases
One of the most remarkable advancements in medical treatments of corneal diseases in recent decades has been corneal transplantation. Corneal defects and diseases are one of the leading causes of blindness globally; therefore, there is a need for gene-based interventions that may mitigate some of these challenges and help reduce the burden of blindness. Corneas being immune-advantaged, uniquely avascular, and transparent is ideal for gene therapy approaches.
  • 996
  • 13 Jul 2023
Topic Review
Glucose-Galactose Malabsorption
Glucose-galactose malabsorption is a condition in which the body cannot take in (absorb) the sugars glucose and galactose, which primarily results in severe diarrhea.
  • 996
  • 23 Dec 2020
Topic Review
Vici Syndrome
Vici syndrome is a severe disorder that begins early in life and affects many body systems. It is characterized by abnormalities of the brain, immune system, heart, skin, and eyes. Other organs and tissues are less commonly affected.  
  • 995
  • 23 Dec 2020
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