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Topic Review
C3 Glomerulopathy
C3 glomerulopathy is a group of related conditions that cause the kidneys to malfunction. The major features of C3 glomerulopathy include high levels of protein in the urine (proteinuria), blood in the urine (hematuria), reduced amounts of urine, low levels of protein in the blood, and swelling in many areas of the body. Affected individuals may have particularly low levels of a protein called complement component 3 (or C3) in the blood.
  • 987
  • 24 Dec 2020
Topic Review
HMERF
Hereditary myopathy with early respiratory failure (HMERF) is an inherited disease that affects muscles used for movement (skeletal muscles) and muscles that are needed for breathing (respiratory muscles).
  • 986
  • 23 Dec 2020
Topic Review
PACS1 Syndrome
PACS1 syndrome is a condition in which all affected individuals have intellectual disability, speech and language problems, and a distinct facial appearance. Many affected individuals have additional neurological, behavioral, and health problems.
  • 986
  • 24 Dec 2020
Topic Review
ATP7B Gene
ATPase copper transporting beta
  • 986
  • 24 Dec 2020
Topic Review
Sialuria
Sialuria is a rare disorder that has variable effects on development.
  • 985
  • 25 Dec 2020
Topic Review
Epigenetics in Congenital Heart Disease
Congenital heart disease (CHD) is the most common birth defect among newborns worldwide and contributes to significant infant morbidity and mortality. Owing to major advances in medical and surgical management, as well as improved prenatal diagnosis, the outcomes for these children with CHD have improved tremendously so much so that there are now more adults living with CHD than children. Advances in genomic technologies have discovered the genetic causes of a significant fraction of CHD, while at the same time pointing to remarkable complexity in CHD genetics. 
  • 985
  • 26 Apr 2021
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.
  • 984
  • 24 Dec 2020
Topic Review
Gorlin Syndrome
Gorlin syndrome, also known as nevoid basal cell carcinoma syndrome, is a condition that affects many areas of the body and increases the risk of developing various cancerous and noncancerous tumors.
  • 984
  • 31 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.
  • 983
  • 24 Dec 2020
Topic Review
BTK Gene
Bruton tyrosine kinase
  • 983
  • 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.
  • 983
  • 25 Dec 2020
Topic Review
DMPK Gene
DM1 Protein Kinase: The DMPK gene provides instructions for making a protein called myotonic dystrophy protein kinase. 
  • 982
  • 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.
  • 981
  • 24 Dec 2020
Topic Review
Primary Hyperoxaluria
Primary hyperoxaluria is a rare condition characterized by recurrent kidney and bladder stones. The condition often results in end stage renal disease (ESRD), which is a life-threatening condition that prevents the kidneys from filtering fluids and waste products from the body effectively.
  • 981
  • 24 Dec 2020
Topic Review
FBXL4 Gene
F-box and leucine rich repeat protein 4
  • 981
  • 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.
  • 981
  • 25 Dec 2020
Topic Review
VHL Gene
Von Hippel-Lindau tumor suppressor.
  • 980
  • 23 Dec 2020
Topic Review
Common Variable Immune Deficiency
Common variable immune deficiency (CVID) is a disorder that impairs the immune system.
  • 980
  • 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.
  • 980
  • 24 Dec 2020
Topic Review
FREM2 Gene
FRAS1 related extracellular matrix protein 2
  • 980
  • 25 Dec 2020
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