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Topic Review
Chromosome 14
Humans normally have 46 chromosomes in each cell, divided into 23 pairs. Two copies of chromosome 14, one copy inherited from each parent, form one of the pairs.
  • 991
  • 24 Dec 2020
Topic Review
Renpenning Syndrome
Renpenning syndrome is a disorder that almost exclusively affects males, causing developmental delay, moderate to severe intellectual disability, and distinctive physical features.
  • 991
  • 24 Dec 2020
Topic Review
DOLK-congenital Disorder of Glycosylation
DOLK-congenital disorder of glycosylation (DOLK-CDG, formerly known as congenital disorder of glycosylation type Im) is an inherited condition that often affects the heart but can also involve other body systems. The pattern and severity of this disorder's signs and symptoms vary among affected individuals.
  • 991
  • 24 Dec 2020
Topic Review
G6PD Gene
Glucose-6-phosphate dehydrogenase
  • 991
  • 25 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.  
  • 989
  • 24 Dec 2020
Topic Review
Ehlers-Danlos Syndrome
Ehlers-Danlos syndrome is a group of disorders that affect connective tissues supporting the skin, bones, blood vessels, and many other organs and tissues. Defects in connective tissues cause the signs and symptoms of these conditions, which range from mildly loose joints to life-threatening complications.
  • 989
  • 25 Dec 2020
Topic Review
Ayurgenomics and Modern Medicine
Within the disciplines of modern medicine, P4 medicine is emerging as a new field which focuses on the whole patient. The development of Ayurgenomics could greatly enrich P4 medicine by providing a clear theoretical understanding of the whole patient and a practical application of ancient and modern preventative and therapeutic practices to improve mental and physical health. One of the most difficult challenges today is understanding the ancient concepts of Ayurveda in terms of modern science. To date, a number of researchers have attempted this task, of which one of the most successful outcomes is the creation of the new field of Ayurgenomics. Ayurgenomics integrates concepts in Ayurveda, such as Prakriti, with modern genetics research. It correlates the combination of three doshas, Vata, Pitta and Kapha, with the expression of specific genes and physiological characteristics. It also helps to interpret Ayurveda as an ancient science of epigenetics which assesses the current state of the doshas, and uses specific personalized diet and lifestyle recommendations to improve a patient’s health. This review provides a current update of this emerging field. 
  • 988
  • 21 Dec 2020
Topic Review
Kidney Stones
Kidney stones (also called renal stones or urinary stones) are small, hard deposits that form in one or both kidneys; the stones are made up of minerals or other compounds found in urine. Kidney stones vary in size, shape, and color.
  • 988
  • 23 Dec 2020
Topic Review
DMPK Gene
DM1 Protein Kinase: The DMPK gene provides instructions for making a protein called myotonic dystrophy protein kinase. 
  • 988
  • 24 Dec 2020
Topic Review
BTK Gene
Bruton tyrosine kinase
  • 988
  • 24 Dec 2020
Topic Review
Camurati-Engelmann Disease
Camurati-Engelmann disease is a skeletal condition that is characterized by abnormally thick bones (hyperostosis) in the arms, legs, and skull.
  • 988
  • 24 Dec 2020
Topic Review
Carney Complex
Carney complex is a disorder characterized by an increased risk of several types of tumors. Affected individuals also usually have changes in skin coloring (pigmentation). Signs and symptoms of this condition commonly begin in the teens or early adulthood.
  • 988
  • 24 Dec 2020
Topic Review
FBXL4 Gene
F-box and leucine rich repeat protein 4
  • 988
  • 25 Dec 2020
Topic Review
Essential Thrombocythemia
Essential thrombocythemia is a condition characterized by an increased number of platelets (thrombocythemia). Platelets (thrombocytes) are blood cells involved in blood clotting. While some people with this condition have no symptoms, others develop problems associated with the excess platelets.
  • 988
  • 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.
  • 988
  • 25 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.
  • 987
  • 24 Dec 2020
Topic Review
VHL Gene
Von Hippel-Lindau tumor suppressor.
  • 986
  • 23 Dec 2020
Topic Review
Common Variable Immune Deficiency
Common variable immune deficiency (CVID) is a disorder that impairs the immune system.
  • 986
  • 24 Dec 2020
Topic Review
Epigenome-Wide Association Study (EWAS)
An epigenome-wide association study (EWAS) is an examination of a genome-wide set of quantifiable epigenetic marks, such as DNA methylation, in different individuals to derive associations between epigenetic variation and a particular identifiable phenotype/trait. When patterns change such as DNA methylation at specific loci, discriminating the phenotypically affected cases from control individuals, this is considered an indication that epigenetic perturbation has taken place that is associated, causally or consequentially, with the phenotype.
  • 986
  • 16 Nov 2022
Topic Review
FLNA Gene
Filamin A
  • 986
  • 25 Dec 2020
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