Diseases

Congenital disorder of glycosylation type 2D

General Introduction about Congenital disorder of glycosylation:

Congenital disorder of glycosylation (carbohydrate-deficient glycoprotein syndrome) is one of several rare inborn errors of metabolism in which glycosylation of a variety of tissue proteins and/or lipids is deficient or defective. Congenital disorders of glycosylation are sometimes known as CDG syndromes. They often cause serious, sometimes fatal, malfunction of several different organ systems (especially the nervous system, muscles, and intestines) in affected infants.

Congenital disorders of glycosylation (CDG) is an umbrella term for a rapidly expanding group of rare genetic, metabolic disorders due to defects in complex chemical process known as glycosylation. Glycosylation is the process by which sugar 'trees' (glycans) are created, altered and chemically attached to certain proteins or fats (lipids). When these sugar molecules are attached to proteins, they form glycoproteins; when they are attached to lipids, they form glycolipids. Glycoproteins and glycolipids have numerous important functions in all tissues and organs.

Glycosylation involves many different genes, encoding many different proteins such as enzymes. A deficiency or lack of one of these enzymes can lead to a variety of symptoms potentially affecting multiple organ systems. CDG can affect any part of the body, and there is nearly always an important neurological component. CDG can be associated with a broad variety of symptoms and can vary in severity from mild cases to severe, disabling or life-threatening cases. CDG are usually apparent from infancy. Individual CDG are caused by a mutation to a specific gene. Most CDG are inherited as autosomal recessive conditions.

CDG was first reported in the medical literature in 1980 by Dr. Jaak Jaeken and colleagues. More than 80 different forms of CDG have been identified in the ensuing years. Several different names have been used to describe these disorders including carbohydrate-deficient glycoprotein syndromes. Recently, Jaeken and colleagues have proposed a classification system that names each subtype by the official abbreviation of its defective gene followed by a dash and CDG. For example, congenital disorder of glycosylation type 1a is now known as PMM2-CDG. PMM2 is the defective gene that causes this subtype of CDG.

CDGs are classified as Types I and II (CDG-I and CDG-II), depending on the nature and location of the biochemical defect in the metabolic pathway relative to the action of oligosaccharyltransferase. The most commonly used screening method for CDG, analysis of transferrin glycosylation status by isoelectric focusing, ESI-MS, or other techniques, distinguish between these subtypes, which are called Type I and Type II patterns. Currently, twenty-two CDG Type-I and fourteen Type-II subtypes of CDG have been described.

Congenital disorder of glycosylation type 2D:

Type 2d is caused by a defect on chromosome 9p13 and involves a defect in the gene for beta-1,4-galactosyltransferase.

Congenital disorder of glycosylation type 2E

General Introduction about Congenital disorder of glycosylation:

Congenital disorder of glycosylation (carbohydrate-deficient glycoprotein syndrome) is one of several rare inborn errors of metabolism in which glycosylation of a variety of tissue proteins and/or lipids is deficient or defective. Congenital disorders of glycosylation are sometimes known as CDG syndromes. They often cause serious, sometimes fatal, malfunction of several different organ systems (especially the nervous system, muscles, and intestines) in affected infants.

Congenital disorders of glycosylation (CDG) is an umbrella term for a rapidly expanding group of rare genetic, metabolic disorders due to defects in complex chemical process known as glycosylation. Glycosylation is the process by which sugar 'trees' (glycans) are created, altered and chemically attached to certain proteins or fats (lipids). When these sugar molecules are attached to proteins, they form glycoproteins; when they are attached to lipids, they form glycolipids. Glycoproteins and glycolipids have numerous important functions in all tissues and organs.

Glycosylation involves many different genes, encoding many different proteins such as enzymes. A deficiency or lack of one of these enzymes can lead to a variety of symptoms potentially affecting multiple organ systems. CDG can affect any part of the body, and there is nearly always an important neurological component. CDG can be associated with a broad variety of symptoms and can vary in severity from mild cases to severe, disabling or life-threatening cases. CDG are usually apparent from infancy. Individual CDG are caused by a mutation to a specific gene. Most CDG are inherited as autosomal recessive conditions.

CDG was first reported in the medical literature in 1980 by Dr. Jaak Jaeken and colleagues. More than 80 different forms of CDG have been identified in the ensuing years. Several different names have been used to describe these disorders including carbohydrate-deficient glycoprotein syndromes. Recently, Jaeken and colleagues have proposed a classification system that names each subtype by the official abbreviation of its defective gene followed by a dash and CDG. For example, congenital disorder of glycosylation type 1a is now known as PMM2-CDG. PMM2 is the defective gene that causes this subtype of CDG.

CDGs are classified as Types I and II (CDG-I and CDG-II), depending on the nature and location of the biochemical defect in the metabolic pathway relative to the action of oligosaccharyltransferase. The most commonly used screening method for CDG, analysis of transferrin glycosylation status by isoelectric focusing, ESI-MS, or other techniques, distinguish between these subtypes, which are called Type I and Type II patterns. Currently, twenty-two CDG Type-I and fourteen Type-II subtypes of CDG have been described.

Congenital disorder of glycosylation type 2E:

CDG type 2E is caused by a mutation that impairs the integrity of the conserved oligomeric Golgi (COG) complex and alters Golgi trafficking, resulting in the disruption of multiple glycosylation pathways. 

Congenital disorder of glycosylation type 2G

General Introduction about Congenital disorder of glycosylation:

Congenital disorder of glycosylation (carbohydrate-deficient glycoprotein syndrome) is one of several rare inborn errors of metabolism in which glycosylation of a variety of tissue proteins and/or lipids is deficient or defective. Congenital disorders of glycosylation are sometimes known as CDG syndromes. They often cause serious, sometimes fatal, malfunction of several different organ systems (especially the nervous system, muscles, and intestines) in affected infants.

Congenital disorders of glycosylation (CDG) is an umbrella term for a rapidly expanding group of rare genetic, metabolic disorders due to defects in complex chemical process known as glycosylation. Glycosylation is the process by which sugar 'trees' (glycans) are created, altered and chemically attached to certain proteins or fats (lipids). When these sugar molecules are attached to proteins, they form glycoproteins; when they are attached to lipids, they form glycolipids. Glycoproteins and glycolipids have numerous important functions in all tissues and organs.

Glycosylation involves many different genes, encoding many different proteins such as enzymes. A deficiency or lack of one of these enzymes can lead to a variety of symptoms potentially affecting multiple organ systems. CDG can affect any part of the body, and there is nearly always an important neurological component. CDG can be associated with a broad variety of symptoms and can vary in severity from mild cases to severe, disabling or life-threatening cases. CDG are usually apparent from infancy. Individual CDG are caused by a mutation to a specific gene. Most CDG are inherited as autosomal recessive conditions.

CDG was first reported in the medical literature in 1980 by Dr. Jaak Jaeken and colleagues. More than 80 different forms of CDG have been identified in the ensuing years. Several different names have been used to describe these disorders including carbohydrate-deficient glycoprotein syndromes. Recently, Jaeken and colleagues have proposed a classification system that names each subtype by the official abbreviation of its defective gene followed by a dash and CDG. For example, congenital disorder of glycosylation type 1a is now known as PMM2-CDG. PMM2 is the defective gene that causes this subtype of CDG.

CDGs are classified as Types I and II (CDG-I and CDG-II), depending on the nature and location of the biochemical defect in the metabolic pathway relative to the action of oligosaccharyltransferase. The most commonly used screening method for CDG, analysis of transferrin glycosylation status by isoelectric focusing, ESI-MS, or other techniques, distinguish between these subtypes, which are called Type I and Type II patterns. Currently, twenty-two CDG Type-I and fourteen Type-II subtypes of CDG have been described.

Congenital disorder of glycosylation type 2G:

Type 2G is caused by a defect on chromosome 17q25.1 and involves a defect on the COG1 gene. It is biochemically characterized by a defect in O-glycosylation as well as N-glycosylation.

Congenital Factor VII deficiency

Factor VII deficiency is an inherited bleeding disorder that is caused by a problem with factor VII. Because the body produces less factor VII than it should, or because the factor VII is not working properly, the clotting reaction is blocked prematurely and the blood clot does not form.

Factor VII deficiency is an autosomal recessive disorder, which means that both parents must carry the defective gene in order to pass it on to their child. It also means that the disorder affects both males and females. Factor VII deficiency is very rare, but like all autosomal recessive disorders, it is found more frequently in areas of the world where marriage between close relatives is common.

Factor VII deficiency may be inherited with other factor deficiencies. It can also be acquired later in life as a result of liver disease, vitamin K deficiency, or certain medications such as the blood-thinning drug Coumadin.

Congenital fiber type disproportion

Congenital fiber type disproportion (CFTD) is a rare genetic muscle disease that is usually apparent at birth (congenital myopathy). It belongs to a group of muscle conditions called the congenital myopathies that tend to affect people in a similar pattern.

Congenital fibrinogen deficiency

Congenital fibrinogen deficiency (Congenital afibrinogenemia) is a rare inherited blood disorder in which the blood does not clot normally due to a lack of, or a malfunction involving the protein fibrinogen. This leads to an excessive bleeding during injuries and the frequent formation of bruises and blood clots. Fibrinogen deficiency is inherited in an autosomal recessive way, so male and female patients are affected with the same probability. The frequency of congenital fibrinogen deficiency is estimated to be 1-2 cases per million people. The disease can already be diagnosed at birth due to excessive bleeding from the umbilical cord. Treatment of congenital fibrinogen deficiency is based on the replacement of fibrinogen to the body with the help of blood plasma or fibrinogen concentrates.

Congenital generalized lipodystrophy type 1

Congenital generalized lipodystrophy type 1 is an autosomal recessive disorder characterized a pronounced generalized paucity of adipose tissue, steatosis of the liver, hypertriglyceridemia and an early onset of diabetes mellitus that is insulin resistant.

Congenital generalized lipodystrophy type 2

Congenital generalized lipodystrophy type 2 is an autosomal recessive disorder characterized a pronounced generalized paucity of adipose tissue, steatosis of the liver, hypertriglyceridemia and an early onset of diabetes mellitus that is insulin resistant. This variety of congenital lipodystrophy is caused by mutations in the BSCL2 gene.

Congenital heart block

A rare congenital heart disease where a slowed heart rate is caused by defects in the heart conduction system. The condition is usually asymptomatic and harmless but in severe cases (complete AV block) various symptoms and sudden death may occur.

Congenital heart septum defect

A heart defect involving the septum which is present at birth. The defect is a hole in the wall of the heart that separates the right and left chambers and allows blood to flow through the hole. An atrial septal defect is a hole between the two upper heart chambers and a ventricular septal defect is a hole between the two lower heart chambers. Symptoms are determined by the size and exact location of the defect.

Congenital hemidysplasia with ichtyosiform erythroderma and limbs defects

Congenital hemidysplasia with ichthyosiform erythroderma and limb defects, more commonly known by the acronym CHILD syndrome, is a condition that affects the development of several parts of the body. The signs and symptoms of this disorder are typically limited to either the right side or the left side of the body. ("Hemi-" means "half," and "dysplasia" refers to abnormal growth.) The right side is affected about twice as often as the left side.

Congenital hemolytic anemia

An inherited blood disorder where a metabolic defect causes defects in the red blood cells membranes which leads to their characteristic spherical shape (normal cells are doughnut shaped) and premature destruction.

Congenital hepatic fibrosis

A rare inherited birth disorder characterized by fibrosis (scarring) of the liver which affects its ability to function. The severity of the condition is variable with some patients being symptomatic during infancy while others may be asymptomatic for most of their life.

Congenital herpes simplex

An infant born with a herpes simplex infection transmitted through the mother. The infection may be localized or involve various internal organs and even the central nervous system in which case death can occur.

Congenital High Airway Obstruction (CHAOS)

Congenital High Airway Obstruction (CHAOS) is a syndrome in which there is a blockage of the upper airway of the fetus during pregnancy. During development, portions of the amniotic fluid are produced and exhaled by the lungs. If there is a blockage of the airway at any level, fluid from the lungs can back up. Longstanding and severe cases of CHAOS can cause heart failure and can lead to fetal demise. Although most infants will make it to birth without problems, there is great concern that the infant will not be able to breathe at time of delivery. This will require special considerations and treatments, such as an EXIT (Ex Utero Intrapartum Treatment) procedure at birth.

http://childrens.memorialhermann.org

Congenital Hydronephrosis

A rare kidney disorder that is present at birth and involves enlargement of the part of the ureter closest to the kidney due to obstruction of the flow of urine out of the kidney. The severity of the condition is determined by the degree of obstruction.

Congenital Hyperinsulinism

Congenital hyperinsulinism (CHI) is a genetic disorder characterized by the overproduction of insulin by the pancreas, leading to dangerously low blood sugar (hypoglycemia), especially in newborns and young children. The overproduction is caused by a dysregulation in the insulin-secreting beta cells of the pancreas, resulting in persistent hypoglycemia.

Congenital hypomyelination neuropathy

CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 4B2 has an autosomal recessive inheritance and involves a defect in the EGR2 gene on chromosome 10.

Congenital hypothyroidism

A congenital deficiency of thyroid hormone due to complete or partial failure of the thyroid gland

Congenital hypotrichosis milia

A rare inherited disorder characterized by reduced hair from birth and the development of numerous milia which tend to disappear by adolescence. The milia occur on the face, chest, armpits and genital area.

Congenital insensitivity to pain with anhidrosis

Congenital insensitivity to pain with anhidrosis (CIPA, hereditary sensory and autonomic neuropathy type IV), is an extremely rare inherited disorder of the nervous system which prevents the sensation of pain, heat, cold, or any real nerve-related sensations (including feeling the need to urinate); however, patients can still feel pressure. CIPA is the fourth type of hereditary sensory and autonomic neuropathy (HSAN), known as HSAN IV. (It is also referred to as HSAN Type IV). A person with CIPA cannot feel pain or differentiate even extreme temperatures. "Anhidrosis" means the body does not sweat, and "congenital" indicates that the condition is present from birth.

Congenital megacolon

Hirschsprung's disease is a blockage of the large intestine due to improper muscle movement in the bowel. It is a congenital condition, which means it is present from birth.