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Topic Review
CCFDN
Congenital cataracts, facial dysmorphism, and neuropathy (CCFDN) is a rare disorder that affects several parts of the body. It is characterized by a clouding of the lens of the eyes at birth (congenital cataracts) and other eye abnormalities, such as small or poorly developed eyes (microphthalmia) and abnormal eye movements (nystagmus). Affected individuals, particularly males, often have distinctive facial features that become more apparent as they reach adulthood. These features include a prominent midface, a large nose, protruding teeth, and a small lower jaw.
  • 1.0K
  • 04 Jan 2021
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.
  • 1.0K
  • 31 Aug 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
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.
  • 1.0K
  • 27 Mar 2023
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.
  • 1.0K
  • 23 Dec 2020
Topic Review
KCNA1 Gene
Potassium voltage-gated channel subfamily A member 1
  • 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
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).
  • 1.0K
  • 24 Dec 2020
Topic Review
GCK Gene
Glucokinase
  • 1.0K
  • 25 Dec 2020
Topic Review
EPAS1 Gene
Endothelial PAS domain protein 1
  • 1.0K
  • 24 Dec 2020
Topic Review
Protein Variants in Cancer-Related Genes
Large scale genome sequencing allowed the identification of a massive number of genetic variations, whose impact on human health is still unknown. In this entry we analyze, by an in silico-based strategy, the impact of missense variants on cancer-related genes, whose effect on protein stability and function was experimentally determined. We collected a set of 164 variants from 11 proteins to analyze the impact of missense mutations at structural and functional levels, and to assess the performance of state-of-the-art methods (FoldX and Meta-SNP) for predicting protein stability change and pathogenicity. 
  • 1.0K
  • 22 Sep 2021
Topic Review
X-linked Agammaglobulinemia
X-linked agammaglobulinemia (XLA) is a condition that affects the immune system and occurs almost exclusively in males.
  • 999
  • 24 Dec 2020
Topic Review
BRCA2 Gene
BRCA2, DNA repair associated
  • 998
  • 24 Dec 2020
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
ABL1 Gene
ABL proto-oncogene 1, non-receptor tyrosine kinase
  • 998
  • 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.
  • 998
  • 24 Dec 2020
Topic Review
POGZ Gene
pogo transposable element derived with ZNF domain
  • 998
  • 25 Dec 2020
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.
  • 997
  • 24 Dec 2020
Topic Review
Pachyonychia Congenita
Pachyonychia congenita is a condition that primarily affects the skin and nails. The signs and symptoms of this condition usually become apparent within the first few years of life.
  • 997
  • 24 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.
  • 997
  • 24 Dec 2020
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