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Topic Review
Gilbert Syndrome
Gilbert syndrome is a relatively mild condition characterized by periods of elevated levels of a toxic substance called bilirubin in the blood (hyperbilirubinemia).
  • 880
  • 23 Dec 2020
Topic Review
Refsum Disease
Refsum disease is an inherited condition that causes vision loss, absence of the sense of smell (anosmia), and a variety of other signs and symptoms.
  • 880
  • 24 Dec 2020
Topic Review
Autosomal Dominant Hyper-IgE Syndrome
Autosomal dominant hyper-IgE syndrome (AD-HIES), formerly known as Job syndrome, is a condition that affects several body systems, particularly the immune system. Recurrent infections are common in people with this condition. Affected individuals tend to have frequent bouts of pneumonia, which are caused by certain kinds of bacteria that infect the lungs and cause inflammation. Inflammation is a normal immune system response to injury and foreign invaders (such as bacteria). However, excessive inflammation can damage body tissues. Recurring pneumonia often results in the formation of air-filled cysts (pneumatoceles) in the lungs. Frequent skin infections and an inflammatory skin disorder called eczema are also very common in AD-HIES. These skin problems cause rashes, blisters, accumulations of pus (abscesses), open sores, and scaling.
  • 880
  • 24 Dec 2020
Topic Review
EARS2 Gene
Glutamyl-tRNA Synthetase 2, Mitochondrial
  • 880
  • 24 Dec 2020
Topic Review
GABRA1 Gene
Gamma-aminobutyric acid type A receptor alpha1 subunit
  • 880
  • 25 Dec 2020
Topic Review
Congenital Afibrinogenemia
Congenital afibrinogenemia is a bleeding disorder caused by impairment of the blood clotting process.
  • 879
  • 24 Dec 2020
Topic Review
C9orf72 Gene
chromosome 9 open reading frame 72
  • 879
  • 24 Dec 2020
Topic Review
CDC73 Gene
cell division cycle 73
  • 879
  • 24 Dec 2020
Topic Review
SLC5A1 Gene
solute carrier family 5 member 1
  • 879
  • 24 Dec 2020
Topic Review
FIP1L1 Gene
FIP1 like 1 (S. cerevisiae)
  • 879
  • 25 Dec 2020
Topic Review
PDHB Gene
pyruvate dehydrogenase E1 beta subunit
  • 879
  • 25 Dec 2020
Topic Review
Histone Modifications in Alzheimer’s Disease
Since Late-onset Alzheimer’s disease (LOAD) derives from a combination of genetic variants and environmental factors, epigenetic modifications have been predicted to play a role in the etiopathology of LOAD. Along with DNA methylation, histone modifications have been proposed as the main epigenetic modifications that contribute to the pathologic mechanisms of LOAD.
  • 879
  • 15 May 2023
Topic Review
Leber Congenital Amaurosis
Leber congenital amaurosis is an eye disorder that primarily affects the retina, which is the specialized tissue at the back of the eye that detects light and color. People with this disorder typically have severe visual impairment beginning in infancy. The visual impairment tends to be stable, although it may worsen very slowly over time.
  • 878
  • 23 Dec 2020
Topic Review
FBN1 Gene
Fibrillin 1: The FBN1 gene provides instructions for making a large protein called fibrillin-1. 
  • 878
  • 25 Dec 2020
Topic Review
POLH Gene
DNA polymerase eta
  • 878
  • 25 Dec 2020
Topic Review
Spina Bifida
Spina bifida is a condition in which the neural tube, a layer of cells that ultimately develops into the brain and spinal cord, fails to close completely during the first few weeks of embryonic development.
  • 877
  • 23 Dec 2020
Topic Review
Anauxetic Dysplasia
Anauxetic dysplasia is a disorder characterized by extremely short stature (dwarfism) and other skeletal abnormalities, an unusually large range of joint movement (hypermobility), dental problems, and distinctive facial features. Mild intellectual disability can also occur in this disorder.
  • 877
  • 24 Dec 2020
Topic Review
X-linked Spondyloepiphyseal Dysplasia Tarda
X-linked spondyloepiphyseal dysplasia tarda is a condition that impairs bone growth and occurs almost exclusively in males.
  • 877
  • 24 Dec 2020
Topic Review
Peutz-Jeghers Syndrome
Peutz-Jeghers syndrome is characterized by the development of noncancerous growths called hamartomatous polyps in the gastrointestinal tract (particularly the stomach and intestines) and a greatly increased risk of developing certain types of cancer.
  • 877
  • 24 Dec 2020
Topic Review
FOLR1 Gene
Folate receptor 1
  • 877
  • 25 Dec 2020
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