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Topic Review
Congenital Afibrinogenemia
Congenital afibrinogenemia is a bleeding disorder caused by impairment of the blood clotting process.
  • 890
  • 24 Dec 2020
Topic Review
BMPR2 Gene
bone morphogenetic protein receptor type 2
  • 890
  • 24 Dec 2020
Topic Review
GALC Gene
Galactosylceramidase: The GALC gene provides instructions for making an enzyme called galactosylceramidase. 
  • 890
  • 25 Dec 2020
Topic Review
Farber Lipogranulomatosis
Farber lipogranulomatosis is a rare inherited condition involving the breakdown and use of fats in the body (lipid metabolism). In affected individuals, lipids accumulate abnormally in cells and tissues throughout the body, particularly around the joints..
  • 890
  • 25 Dec 2020
Topic Review
PDHA1 Gene
pyruvate dehydrogenase E1 alpha 1 subunit
  • 890
  • 25 Dec 2020
Topic Review
Duckweed Species in Saudi Arabia
Duckweeds, or Lemnaceae, are widespread aquatic plants. Morphology-based identification of duckweed species is difficult because of their structural complexity. Hence, molecular tools provide significant advantages for characterizing and selecting species or clones for sustainable commercial use.
  • 890
  • 18 Nov 2021
Topic Review
Legius Syndrome
Legius syndrome is a condition characterized by changes in skin coloring (pigmentation).
  • 890
  • 23 Dec 2020
Topic Review
Craniofrontonasal Syndrome
Craniofrontonasal syndrome is a rare condition characterized by the premature closure of certain bones of the skull (craniosynostosis) during development, which affects the shape of the head and face. The condition is named for the areas of the body that are typically affected: the skull (cranio-), face (fronto-), and nose (nasal).
  • 890
  • 24 Dec 2020
Topic Review
Pyruvate Dehydrogenase Deficiency
Pyruvate dehydrogenase deficiency is characterized by the buildup of a chemical called lactic acid in the body and a variety of neurological problems.
  • 889
  • 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.
  • 889
  • 24 Dec 2020
Topic Review
Sturge-Weber Syndrome
Sturge-Weber syndrome is a condition that affects the development of certain blood vessels, causing abnormalities in the brain, skin, and eyes from birth. Sturge-Weber syndrome has three major features: a red or pink birthmark called a port-wine birthmark, a brain abnormality called a leptomeningeal angioma, and increased pressure in the eye (glaucoma). These features can vary in severity and not all individuals with Sturge-Weber syndrome have all three features.  
  • 888
  • 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.
  • 888
  • 24 Dec 2020
Topic Review
SCN1A Gene
sodium voltage-gated channel alpha subunit 1
  • 888
  • 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.
  • 888
  • 24 Dec 2020
Topic Review
PDHB Gene
pyruvate dehydrogenase E1 beta subunit
  • 888
  • 25 Dec 2020
Topic Review
Exosomal microRNA in Pancreatic Cancer
Pancreatic cancer is a highly aggressive and lethal malignancy mostly due to its late-stage presentation. This malignancy is difficult to diagnose, monitor, and treat, hence the development of novel diagnostic and prognostic biomarkers and better therapeutic strategies are urgently needed. Several groundbreaking discoveries over the past decade on cancer-associated exosomes demonstrated an association between exosomal miRNA and the development, progression, and therapy-resistance of pancreatic cancer.
  • 888
  • 29 Jun 2021
Topic Review
Globozoospermia
Globozoospermia is a condition that affects only males. It is characterized by abnormal sperm and leads to an inability to father biological children (infertility).
  • 888
  • 23 Dec 2020
Topic Review
MMP2 Gene
matrix metallopeptidase 2
  • 887
  • 22 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).
  • 887
  • 23 Dec 2020
Topic Review
Moebius Syndrome
Moebius syndrome is a rare neurological condition that primarily affects the muscles that control facial expression and eye movement. The signs and symptoms of this condition are present from birth.
  • 887
  • 23 Dec 2020
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