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Topic Review
EARS2 Gene
Glutamyl-tRNA Synthetase 2, Mitochondrial
  • 887
  • 24 Dec 2020
Topic Review
FIP1L1 Gene
FIP1 like 1 (S. cerevisiae)
  • 887
  • 25 Dec 2020
Topic Review
Erythromelalgia
Erythromelalgia is a condition characterized by episodes of pain, redness, and swelling in various parts of the body, particularly the hands and feet. These episodes are usually triggered by increased body temperature, which may be caused by exercise or entering a warm room. Ingesting alcohol or spicy foods may also trigger an episode. Wearing warm socks, tight shoes, or gloves can cause a pain episode so debilitating that it can impede everyday activities such as wearing shoes and walking. Pain episodes can prevent an affected person from going to school or work regularly.
  • 887
  • 25 Dec 2020
Topic Review
Vascular Anomalies
Vascular anomalies include various diseases, which are classified into two types according to the International Society for the Study of Vascular Anomalies (ISSVA) classification: vascular tumors with proliferative changes of endothelial cells, and vascular malformations primarily consisting of structural vascular abnormalities. Vascular lesions had been habitually termed ‘hemangioma’ or ‘angioma’ in both Japan and Europe/the United States based on the impression that most anomalies are ‘tumors’. On the contrary, hemangioma simplex and cavernous hemangioma, for example, are actually morphological abnormalities of capillary blood vessels or veins, respectively, despite the disease name “hemangioma”. These diseases differ from tumors in a narrow sense, which refers to autonomous cell proliferation. In addition to such problems with disease naming and nomenclature, vascular lesions can occur at various ages and in various organs, meaning they may require treatment in various hospital departments, so improved common terms/language are essential for mutual understanding.
  • 887
  • 11 Mar 2022
Topic Review
FBN1 Gene
Fibrillin 1: The FBN1 gene provides instructions for making a large protein called fibrillin-1. 
  • 887
  • 25 Dec 2020
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).
  • 886
  • 23 Dec 2020
Topic Review
Jackson-Weiss Syndrome
Jackson-Weiss syndrome is a genetic disorder characterized by foot abnormalities and the premature fusion of certain skull bones (craniosynostosis).
  • 886
  • 23 Dec 2020
Topic Review
Aicardi-Goutières Syndrome
Aicardi-Goutières syndrome is a disorder that mainly affects the brain, the immune system, and the skin.
  • 886
  • 24 Dec 2020
Topic Review
ATM Gene
ATM serine/threonine kinase
  • 886
  • 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.
  • 886
  • 24 Dec 2020
Topic Review
C9orf72 Gene
chromosome 9 open reading frame 72
  • 886
  • 24 Dec 2020
Topic Review
COG4 Gene
component of oligomeric golgi complex 4
  • 886
  • 19 Apr 2021
Topic Review
Medium-Chain Acyl-CoA Dehydrogenase Deficiency
Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is a condition that prevents the body from converting certain fats to energy, particularly during periods without food (fasting).
  • 885
  • 23 Dec 2020
Topic Review
Congenital Afibrinogenemia
Congenital afibrinogenemia is a bleeding disorder caused by impairment of the blood clotting process.
  • 885
  • 24 Dec 2020
Topic Review
BMPR2 Gene
bone morphogenetic protein receptor type 2
  • 885
  • 24 Dec 2020
Topic Review
POLH Gene
DNA polymerase eta
  • 885
  • 25 Dec 2020
Topic Review
PDHB Gene
pyruvate dehydrogenase E1 beta subunit
  • 885
  • 25 Dec 2020
Topic Review
GABRA1 Gene
Gamma-aminobutyric acid type A receptor alpha1 subunit
  • 885
  • 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.
  • 884
  • 23 Dec 2020
Topic Review
Neonatal Onset Multisystem Inflammatory Disease
Neonatal onset multisystem inflammatory disease (NOMID) is a disorder that causes persistent inflammation and tissue damage primarily affecting the nervous system, skin, and joints. Recurrent episodes of mild fever may also occur in this disorder.
  • 884
  • 23 Dec 2020
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