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Topic Review
Glycogen Storage Disease Type IV
Glycogen storage disease type IV (GSD IV) is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body's cells. The accumulated glycogen is structurally abnormal and impairs the function of certain organs and tissues, especially the liver and muscles. There are five types of GSD IV, which are distinguished by their severity, signs, and symptoms.
  • 826
  • 23 Dec 2020
Topic Review
NLRP3 Gene
NLR family pyrin domain containing 3
  • 826
  • 23 Dec 2020
Topic Review
Aniridia
Aniridia is an eye disorder characterized by a complete or partial absence of the colored part of the eye (the iris). These iris abnormalities may cause the pupils to be abnormal or misshapen. Aniridia can cause reduction in the sharpness of vision (visual acuity) and increased sensitivity to light (photophobia).
  • 826
  • 24 Dec 2020
Topic Review
Paroxysmal Extreme Pain Disorder
Paroxysmal extreme pain disorder is a condition characterized by skin redness and warmth (flushing) and attacks of severe pain in various parts of the body.
  • 826
  • 24 Dec 2020
Topic Review
MLYCD Gene
malonyl-CoA decarboxylase
  • 825
  • 22 Dec 2020
Topic Review
Hennekam Syndrome
Hennekam syndrome is an inherited disorder resulting from malformation of the lymphatic system, which is part of both the circulatory system and immune system. The lymphatic system consists of a network of vessels that transport lymph fluid and immune cells throughout the body.
  • 825
  • 04 Apr 2021
Topic Review
Vohwinkel Syndrome
Vohwinkel syndrome is a disorder with classic and variant forms, both of which affect the skin.  
  • 825
  • 23 Dec 2020
Topic Review
Leukoencephalopathy with Vanishing White Matter
Leukoencephalopathy with vanishing white matter is a progressive disorder that mainly affects the brain and spinal cord (central nervous system).
  • 825
  • 24 Dec 2020
Topic Review
Ewing Sarcoma
Ewing sarcoma is a cancerous tumor that occurs in bones or soft tissues, such as cartilage or nerves. There are several types of Ewing sarcoma, including Ewing sarcoma of bone, extraosseous Ewing sarcoma, peripheral primitive neuroectodermal tumor (pPNET), and Askin tumor. These tumors are considered to be related because they have similar genetic causes. These types of Ewing sarcoma can be distinguished from one another by the tissue in which the tumor develops. Approximately 87 percent of Ewing sarcomas are Ewing sarcoma of bone, which is a bone tumor that usually occurs in the thigh bones (femurs), pelvis, ribs, or shoulder blades. Extraosseous (or extraskeletal) Ewing sarcoma describes tumors in the soft tissues around bones, such as cartilage. pPNETs occur in nerve tissue and can be found in many parts of the body. A type of pPNET found in the chest is called Askin tumor.
  • 825
  • 25 Dec 2020
Topic Review
KCNK9 Imprinting Syndrome
KCNK9 imprinting syndrome is a rare condition characterized by weak muscle tone (hypotonia) from birth.
  • 824
  • 23 Dec 2020
Topic Review
Pulmonary Alveolar Microlithiasis
Pulmonary alveolar microlithiasis is a disorder in which many tiny fragments (microliths) of a compound called calcium phosphate gradually accumulate in the small air sacs (alveoli) located throughout the lungs.
  • 824
  • 24 Dec 2020
Topic Review
Autosomal Dominant Hypocalcemia
Autosomal dominant hypocalcemia is characterized by low levels of calcium in the blood (hypocalcemia). Affected individuals can have an imbalance of other molecules in the blood as well, including too much phosphate (hyperphosphatemia) or too little magnesium (hypomagnesemia). Some people with autosomal dominant hypocalcemia also have low levels of a hormone called parathyroid hormone (hypoparathyroidism). This hormone is involved in the regulation of calcium levels in the blood. Abnormal levels of calcium and other molecules in the body can lead to a variety of signs and symptoms, although about half of affected individuals have no associated health problems.
  • 824
  • 24 Dec 2020
Topic Review
Systemic Scleroderma
Systemic scleroderma is an autoimmune disorder that affects the skin and internal organs. Autoimmune disorders occur when the immune system malfunctions and attacks the body's own tissues and organs. The word "scleroderma" means hard skin in Greek, and the condition is characterized by the buildup of scar tissue (fibrosis) in the skin and other organs. The condition is also called systemic sclerosis because the fibrosis can affect organs other than the skin. Fibrosis is due to the excess production of a tough protein called collagen, which normally strengthens and supports connective tissues throughout the body.  
  • 823
  • 23 Dec 2020
Topic Review
ESCO2 Gene
Establishment of sister chromatid cohesion N-acetyltransferase 2
  • 823
  • 24 Dec 2020
Topic Review
SMARCA2 Gene
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2
  • 823
  • 24 Dec 2020
Topic Review
WRN Gene
Werner syndrome RecQ like helicase: the WRN gene provides instructions for producing the Werner protein, which plays a critical role in repairing damaged DNA. The Werner protein functions as a type of enzyme called a helicase.
  • 822
  • 24 Dec 2020
Topic Review
ZAP70-related Severe Combined Immunodeficiency
ZAP70-related severe combined immunodeficiency (SCID) is an inherited disorder that damages the immune system.
  • 822
  • 24 Dec 2020
Topic Review
TPO Gene
Thyroid peroxidase: The TPO gene provides instructions for making an enzyme called thyroid peroxidase.
  • 822
  • 25 Dec 2020
Topic Review
Associated Diseases of SLC4 Proteins in Human Tissues
The solute carrier family 4 (SLC4) is an important protein responsible for the transport of various ions across the cell membrane and mediating diverse physiological functions, such as the ion transporting function, protein-to-protein interactions, and molecular transduction. The deficiencies in SLC4 molecules may cause multisystem disease involving, particularly, the respiratory system, digestive, urinary, endocrine, hematopoietic, and central nervous systems. 
  • 822
  • 30 Oct 2023
Topic Review
PGM3-Congenital Disorder of Glycosylation
PGM3-congenital disorder of glycosylation (PGM3-CDG) is an inherited condition that primarily affects the immune system but can also involve other areas of the body. The pattern and severity of this disorder's signs and symptoms typically vary.
  • 822
  • 24 Dec 2020
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