Patau’s Syndrome
Patau’s syndrome, also called trisomy 13, is a genetic problem that starts when a baby is still a tiny group of cells. In this condition there are three copies of chromosome 13 in some or all cells, ...
Rx Autoimmune, Genetic and Rare Diseases (A – Z)
Complete Trisomy 13 Syndrome
Complete trisomy 13 syndrome (also called Patau syndrome) is a genetic condition where every cell in the baby’s body has three copies of chromosome 13 instead of the normal two. This extra copy ...
Complete Endocardial Cushion Defect
Complete endocardial cushion defect is a birth heart problem in which there is a big hole in the center of the heart and only one large valve instead of two separate valves between the upper and ...
Complete Atrioventricular Septal Defect with Atrial and Ventricular Components
Complete atrioventricular septal defect with atrial and ventricular components (complete AVSD) is a birth heart problem where there is one large hole in the center of the heart and one shared valve ...
Complete Atrioventricular Canal Defect
Complete atrioventricular canal defect is a serious heart problem that a baby is born with. In this condition there is one large hole in the middle of the heart, where the top chambers (atria) and ...
Complete Atrioventricular Canal
Complete atrioventricular canal is a serious heart problem that a baby is born with. In this condition there is a big hole in the center of the heart where the upper chambers (atria) and lower ...
Complete Androgen Resistance Syndrome
Complete androgen resistance syndrome means the body cannot “hear” or use male sex hormones (androgens) at all, even though these hormones are present in normal or high amounts. In almost all cases, ...
Complement Receptor Deficiency
Complement receptor deficiency is a rare health problem where the body does not have enough working “complement receptors” on its immune cells, or these receptors do not work properly. Complement ...
Complement Component Deficiency
Complement component deficiency is a health problem where one or more proteins of the “complement system” are missing or do not work properly. The complement system is a group of blood proteins ...
Complement Deficiency Caused by Mutation in C5
Complement deficiency caused by mutation in C5 (also called complement component 5 deficiency or C5 deficiency) is a rare problem of the immune system. In this condition, the body has very low or no ...
Complement Component 5 Deficiency
Complement component 5 deficiency (often shortened to C5 deficiency or C5D) is a rare problem of the immune system where the body does not have enough working C5 protein, or the C5 protein does not ...
Classic Complement Early Component Deficiency Caused by Mutation in C3
Classic complement early component deficiency caused by mutation in C3 means that an important immune protein, called complement component 3 or C3, is missing or does not work well because of a ...
C3 Complement Deficiency
C3 complement deficiency means that the blood has very low or almost no working C3 protein, which is one of the main “helper” proteins in the immune system’s complement pathway. C3 sits in the middle ...
Complement Component 3 (C3) Deficiency
Complement component 3 (C3) deficiency is a health problem where the blood has very low or almost no C3 protein, which is a key part of the complement system of the immune system. C3 helps the body ...
Complement Deficiency Caused by Mutation in C2
Complement deficiency caused by mutation in C2 means that a small change (mutation) in the C2 gene stops the body from making enough working C2 protein, which is part of the classical complement ...
Complement Component 2 Deficiency
Complement component 2 deficiency (often called “C2 deficiency”) is a problem in the immune system. In this condition, the body does not have enough working complement component 2 (C2) protein, or ...
Compartment Syndrome
Compartment syndrome is a serious problem that happens when pressure inside a closed space in the body (a “compartment”) becomes too high. Muscles, nerves, and blood vessels sit inside this tight ...
Sporadic Hypogammaglobulinemia
Sporadic hypogammaglobulinemia is a health problem where the body has low levels of protective proteins called immunoglobulins (antibodies), even though there is no clear family history of the ...
Common Variable Agammaglobulinemia
Common variable agammaglobulinemia is usually used to describe common variable immunodeficiency (CVID) – a primary immune system disease where the body makes very low levels of antibodies ...
Common Variable Immunodeficiency (CVID)
Common variable immunodeficiency (usually called CVID) is a long-term problem of the immune system. In CVID, the body does not make enough protective proteins called antibodies (also named ...
