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Topic Review
Heterotaxy Syndrome
Heterotaxy syndrome is a condition in which the internal organs are abnormally arranged in the chest and abdomen.
  • 993
  • 23 Dec 2020
Topic Review
Adult Polyglucosan Body Disease
Adult polyglucosan body disease (APBD) is a condition that affects the nervous system. People with APBD typically first experience signs and symptoms related to the condition between ages 35 and 60. Initial symptoms of the disorder include numbness and tingling in the legs (peripheral neuropathy) and progressive muscle weakness and stiffness (spasticity). As a result, affected individuals can have an unsteady gait, poor balance, and an increased risk of falling.  
  • 993
  • 24 Dec 2020
Topic Review
FBXL4 Gene
F-box and leucine rich repeat protein 4
  • 992
  • 25 Dec 2020
Topic Review
Focal Dermal Hypoplasia
Focal dermal hypoplasia is a genetic disorder that primarily affects the skin, skeleton, eyes, and face. About 90 percent of affected individuals are female. Males usually have milder signs and symptoms than females. Although intelligence is typically unaffected, some individuals have intellectual disability.
  • 991
  • 25 Dec 2020
Topic Review
DCC Gene
DCC Netrin 1 Receptor: The DCC gene provides instructions for making a protein called the netrin-1 receptor, which is involved in the development of the nervous system. 
  • 990
  • 23 Dec 2020
Topic Review
Andermann Syndrome
Andermann syndrome is a disorder that damages the nerves used for muscle movement and sensation (motor and sensory neuropathy). Absence (agenesis) or malformation of the tissue connecting the left and right halves of the brain (corpus callosum) also occurs in most people with this disorder.
  • 990
  • 24 Dec 2020
Topic Review
Pancreatic Cancer with Mutation
Pancreatic ductal adenocarcinoma (PDAC) is the seventh leading cause of cancer death worldwide; most of cases are sporadic, however about 5% to 10% report a hereditary predisposition. Several hereditary syndromes have been associated with familial pancreatic cancer (FPC) onset, including hereditary breast and ovarian cancer syndrome (HBOC), Lynch syndrome (LS), Familial atypical multiple mole melanoma (FAMMM), Familial adenomatous polyposis (FAP), Li–Fraumeni syndrome (LFS), Peutz–Jeghers syndrome (PJS), and Hereditary pancreatitis (HP).
  • 990
  • 22 Feb 2022
Topic Review
Common Variable Immune Deficiency
Common variable immune deficiency (CVID) is a disorder that impairs the immune system.
  • 989
  • 24 Dec 2020
Topic Review
Chromosome 4
Humans normally have 46 chromosomes in each cell, divided into 23 pairs. Two copies of chromosome 4, one copy inherited from each parent, form one of the pairs.
  • 989
  • 24 Dec 2020
Topic Review
ACP5 Gene
acid phosphatase 5, tartrate resistant
  • 989
  • 24 Dec 2020
Topic Review
Ataxia-telangiectasia
Ataxia-telangiectasia is a rare inherited disorder that affects the nervous system, immune system, and other body systems. This disorder is characterized by progressive difficulty with coordinating movements (ataxia) beginning in early childhood, usually before age 5. Affected children typically develop difficulty walking, problems with balance and hand coordination, involuntary jerking movements (chorea), muscle twitches (myoclonus), and disturbances in nerve function (neuropathy). The movement problems typically cause people to require wheelchair assistance by adolescence. People with this disorder also have slurred speech and trouble moving their eyes to look side-to-side (oculomotor apraxia). Small clusters of enlarged blood vessels called telangiectases, which occur in the eyes and on the surface of the skin, are also characteristic of this condition.
  • 987
  • 24 Dec 2020
Topic Review
EPCAM Gene
Epithelial cell adhesion molecule
  • 987
  • 04 Jan 2021
Topic Review
Branchiootorenal/Branchiootic Syndrome
Branchiootorenal (BOR) syndrome is a condition that disrupts the development of tissues in the neck and causes malformations of the ears and kidneys. The signs and symptoms of this condition vary widely, even among members of the same family. Branchiootic (BO) syndrome includes many of the same features as BOR syndrome, but affected individuals do not have kidney abnormalities. The two conditions are otherwise so similar that researchers often consider them together (BOR/BO syndrome or branchiootorenal spectrum disorders).
  • 986
  • 24 Dec 2020
Topic Review
Cholangiocarcinoma
Cholangiocarcinoma is a group of cancers that begin in the bile ducts. Bile ducts are branched tubes that connect the liver and gallbladder to the small intestine. They carry bile, which is a fluid that helps the body digest fats that are in food. Bile is made in the liver and stored in the gallbladder before being released in the small intestine after a person eats.
  • 985
  • 24 Dec 2020
Topic Review
SLCO1B1 Gene
solute carrier organic anion transporter family member 1B1
  • 985
  • 24 Dec 2020
Topic Review
Nakajo-Nishimura Syndrome
Nakajo-Nishimura syndrome is an inherited condition that affects many parts of the body and has been described only in the Japanese population. Beginning in infancy or early childhood, affected individuals develop red, swollen lumps (nodular erythema) on the skin that occur most often in cold weather; recurrent fevers; and elongated fingers and toes with widened and rounded tips (clubbing).
  • 984
  • 23 Dec 2020
Topic Review
Rubinstein-Taybi Syndrome
Rubinstein-Taybi syndrome is a condition characterized by short stature, moderate to severe intellectual disability, distinctive facial features, and broad thumbs and first toes. 
  • 984
  • 24 Dec 2020
Topic Review
KL Gene
klotho
  • 984
  • 04 Jan 2021
Topic Review
ACD/MPV
Alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV) is a disorder affecting the development of the lungs and their blood vessels. The disorder affects the millions of small air sacs (alveoli) in the lungs and the tiny blood vessels (capillaries) in the alveoli. It is through these alveolar capillaries that inhaled oxygen enters the bloodstream for distribution throughout the body and carbon dioxide leaves the bloodstream to be exhaled.
  • 984
  • 04 Jan 2021
Topic Review
C9orf72-Associated Toxic Dipeptide Repeats
Protein homeostasis is essential for neuron longevity, requiring a balanced regulation between protein synthesis and degradation. The clearance of misfolded and aggregated proteins, mediated by autophagy and the ubiquitin–proteasome systems, maintains protein homeostasis in neurons, which are post-mitotic and thus cannot use cell division to diminish the burden of misfolded proteins. When protein clearance pathways are overwhelmed or otherwise disrupted, the accumulation of misfolded or aggregated proteins can lead to the activation of ER stress and the formation of stress granules, which predominantly attempt to restore the homeostasis by suppressing global protein translation. Alterations in these processes have been widely reported among studies investigating the toxic function of dipeptide repeats (DPRs) produced by G4C2 expansion in the C9orf72 gene of patients with amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD).
  • 984
  • 26 Jan 2024
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