Chronic Cold Agglutinin Disease
Chronic cold agglutinin disease is a long-lasting blood disease where your immune system wrongly attacks your own red blood cells, mainly when your body or your blood gets cold. This attack happens ...
Rx Autoimmune, Genetic and Rare Diseases (A – Z)
Cold Agglutinin Disease (CAD)
Cold agglutinin disease (CAD) is a rare kind of autoimmune hemolytic anemia. This means your immune system makes a wrong antibody that attacks your own red blood cells and breaks them early, so you ...
Cohen-Gibson Syndrome
Cohen-Gibson syndrome is a very rare genetic condition. It starts before birth or in early childhood. Children with this syndrome usually grow faster and bigger than other children of the same age. ...
Cohen Syndrome
Cohen syndrome is a very rare genetic condition that affects many parts of the body, especially growth, learning, eyes, blood cells, and body shape. It usually shows up in early childhood with slow ...
Cognitive Impairment – Coarse Facies – Heart Defects – Obesity – Pulmonary Involvement – Short Stature – Skeletal Dysplasia Syndrome
Cognitive impairment – coarse facies – heart defects – obesity – pulmonary involvement – short stature – skeletal dysplasia syndrome is a very rare genetic disease. Doctors also call it CHOPS ...
Cogan Syndrome
Cogan syndrome is a rare disease where the body’s own defense system (the immune system) wrongly attacks parts of the eyes and inner ears. This attack causes inflammation of the clear front window of ...
Component of Oligomeric Golgi Complex 8 Congenital Disorder of Glycosylation (COG8-CDG)
Component of oligomeric Golgi complex 8 congenital disorder of glycosylation (often shortened to COG8-CDG) is a very rare inherited disease that affects how the body adds sugar chains (glycans) to ...
Carbohydrate Deficient Glycoprotein Syndrome Type IIh
Carbohydrate deficient glycoprotein syndrome type IIh is a very rare inherited metabolic disease. It belongs to a group of diseases called congenital disorders of glycosylation (CDG). In this ...
COG8-Congenital Disorder of Glycosylation (COG8-CDG)
COG8-congenital disorder of glycosylation (COG8-CDG) is a very rare genetic disease. It happens when the COG8 gene does not work in the normal way. This gene helps a cell organ called the Golgi ...
Component of Oligomeric Golgi Complex 7 Congenital Disorder of Glycosylation (COG7-CDG)
Component of oligomeric Golgi complex 7 congenital disorder of glycosylation (COG7-CDG) is a very rare genetic disease that affects how the body adds sugar chains to proteins, a process called ...
Carbohydrate Deficient Glycoprotein Syndrome Type IIe
Carbohydrate deficient glycoprotein syndrome type IIe is an extremely rare inherited disease of sugar processing inside the body’s cells. In today’s names it is usually called COG7-congenital ...
COG7-Congenital Disorder of Glycosylation (COG7-CDG)
COG7-congenital disorder of glycosylation (COG7-CDG) is a very rare inherited disease that starts before birth and affects almost every part of the body. In this condition, a gene called COG7 does ...
Component of Oligomeric Golgi Complex 6–Congenital Disorder of Glycosylation (COG6-CDG)
Component of oligomeric Golgi complex 6–congenital disorder of glycosylation (short name COG6-CDG) is a very rare genetic disease that affects how sugar chains are added to proteins in the body. ...
COG6-Congenital Disorder of Glycosylation (COG6-CDG, CDG2L)
COG6-congenital disorder of glycosylation (COG6-CDG, also called CDG2L) is a very rare genetic disease. It affects how the body adds sugar chains (glycans) to proteins inside cells. This sugar-adding ...
Component of Oligomeric Golgi Complex 5 Congenital Disorder of Glycosylation (COG5-CDG)
Component of oligomeric Golgi complex 5 congenital disorder of glycosylation (COG5-CDG) is a very rare inherited disease. It belongs to a group of conditions called congenital disorders of ...
Carbohydrate-Deficient Glycoprotein Syndrome Type III
Carbohydrate-deficient glycoprotein syndrome type III is an old name for a group of very rare, inherited diseases where the body does not add sugar chains to proteins in the normal way. Today these ...
Component of Oligomeric Golgi Complex 4 Congenital Disorder of Glycosylation (COG4-CDG)
Component of oligomeric Golgi complex 4 congenital disorder of glycosylation (COG4-CDG) is a very rare inherited metabolic disease. It happens when the COG4 gene does not work in the normal way. The ...
Carbohydrate-Deficient Glycoprotein Syndrome Type 2j
Carbohydrate-deficient glycoprotein syndrome type 2j is now usually called COG4-congenital disorder of glycosylation (COG4-CDG) or CDG type IIj (CDG2J). It is a very rare inherited disease. In this ...
COG4-Congenital Disorder of Glycosylation (COG4-CDG)
COG4-congenital disorder of glycosylation (COG4-CDG) is a very rare inherited disease. It happens when there are harmful changes (mutations) in a gene called COG4. This gene helps a cell structure ...
Component of Oligomeric Golgi Complex 1 Congenital Disorder of Glycosylation
Component of oligomeric Golgi complex 1 congenital disorder of glycosylation (often shortened to COG1-CDG) is an extremely rare inherited disease in which the body cannot add sugar chains (glycans) ...
