Carcinoid Syndrome
Carcinoid syndrome is a group of symptoms that happens when certain slow-growing neuroendocrine tumors (NETs) make and release hormones—most often serotonin—into your bloodstream. These chemicals ...
Rx Autoimmune, Genetic and Rare Diseases (A – Z)
Carbamoyl Phosphate Synthetase Deficiency
Carbamoyl phosphate synthetase deficiency is a rare, inherited problem of the urea cycle—the body’s system for removing extra ammonia, a waste made when we break down protein. CPS1 is the first liver ...
NEMO Deficiency Syndrome
NEMO deficiency syndrome is a rare, inherited immune system disorder caused by harmful changes (variants) in the IKBKG gene on the X chromosome. IKBKG makes a protein called NEMO (NF-κB Essential ...
Maeda Syndrome
Maeda syndrome is another name for CARASIL, a very rare inherited small-vessel disease of the brain. It damages the tiny arteries deep inside the brain, leading to repeated small strokes (lacunar ...
Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CARASIL)
Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) is a rare, inherited disease that damages the brain’s tiny blood vessels. It is caused by harmful ...
CARASIL Syndrome
CARASIL stands for Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy.It is a rare genetic small-vessel disease of the brain. It mainly damages tiny arteries ...
Capillary Malformation–Arteriovenous Malformation 1 (CM-AVM1)
Capillary malformation–arteriovenous malformation 1 (CM-AVM1) is a genetic condition that changes how some blood vessels grow and connect. People are born with it. Small red-pink skin marks ...
Chronic Ataxic Neuropathy, Ophthalmoplegia, Monoclonal Immunoglobulin M Protein, Cold Agglutinin and Disialosyl Antibody Syndrome
Chronic Ataxic Neuropathy, Ophthalmoplegia, Monoclonal Immunoglobulin M Protein, Cold Agglutinin and Disialosyl Antibody Syndrome is a rare, long-lasting, immune-mediated nerve disease. The immune ...
Chronic Ataxic Neuropathy-Ophthalmoplegia-IgM Paraprotein-Cold Agglutinins-Disialosyl Antibodies Syndrome
Chronic ataxic neuropathy-ophthalmoplegia-IgM paraprotein-cold agglutinins-disialosyl antibodies syndrome is a rare, long-lasting autoimmune nerve disease. Your immune system makes a monoclonal IgM ...
CANDA Syndrome
CANDA syndrome—short for Chronic Ataxic Neuropathy with anti-Disialosyl antibodies. It belongs to the same family as CANOMAD (Chronic Ataxic Neuropathy with Ophthalmoplegia, IgM paraprotein, Cold ...
CANOMAD (Chronic Ataxic Neuropathy with Ophthalmoplegia, IgM Paraprotein, Cold Agglutinins, and Disialosyl Antibodies) Syndrome
CANOMAD is a rare, chronic, immune-mediated nerve disorder. The full name summarizes its key features: Chronic Ataxic Neuropathy with Ophthalmoplegia (eye-movement weakness), an IgM monoclonal ...
Canavan Disease
Canavan disease is a rare, inherited brain disorder. It belongs to a group of white-matter diseases called leukodystrophies. In Canavan disease, a gene problem stops the body from making a working ...
Camptomelic Syndrome, Long-Limb Type
Camptomelic syndrome, long-limb type is a rare genetic condition that changes how the skeleton, airway, and some other organs form before birth. The classic sign is bent long bones. In the long-limb ...
Rozin Camptodactyly Syndrome
Rozin Camptodactyly Syndrome is an extremely rare, multi-system birth condition. Children are born with camptodactyly (fingers stuck in a bent position), other joint contractures, specific eye ...
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome
Camptodactyly-joint contractures-facial skeletal defects syndrome is a very rare, congenital (present at birth) syndrome. Children have bent fingers that cannot fully straighten (camptodactyly). They ...
Camptodactyly, Myopia, and Fibrosis of the Medial Rectus Muscle of the Eye
Camptodactyly, myopia, and fibrosis of the medial rectus muscle of the eye is a very rare congenital (present at birth) syndrome. People who have it usually show a fixed bend of one or more fingers ...
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