Carbamoyl Phosphate Synthetase I (CPS1) deficiency is a rare, inherited problem of the urea cycle. The urea cycle is the liver’s “nitrogen-cleaning” system. It ...
Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist.
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 ...
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, ...
Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) is a rare, inherited disease that damages the brain’s ...
CARASIL stands for Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy.It is a rare genetic small-vessel disease of the ...
Capillary malformation-arteriovenous malformation (CM-AVM) syndrome is a genetic condition that causes two main kinds of blood-vessel changes. First, many ...
Parkes Weber syndrome (PWS) is a rare condition present from birth where abnormal fast-flow connections form between arteries and veins (arteriovenous fistulas ...
Capillary malformation–arteriovenous malformation 1 (CM-AVM1) is a genetic condition that changes how some blood vessels grow and connect. People are born with ...
Systemic capillary leak syndrome is a rare condition where tiny blood vessels (capillaries) suddenly become very leaky. Fluid and proteins that should stay ...
Idiopathic capillary leak syndrome is a very rare condition where tiny blood vessels (capillaries) suddenly become “leaky.” During an attack, fluid and ...
Clarkson disease is a very rare disorder where fluid and proteins suddenly leak out of tiny blood vessels (capillaries) into the body’s tissues. During an ...
Capillary hyperpermeability syndrome means the tiny blood vessels (capillaries) suddenly become “too leaky.” When they leak, protein-rich plasma leaves the ...
Capillary Leak Syndrome means fluid and proteins leak out of very small blood vessels (capillaries). The fluid moves into the tissues. Blood volume in the ...
Cap skeletal myopathy is a rare, inherited muscle disease that mainly affects the body’s skeletal muscles—the muscles we use to move. Under the microscope, ...
Cap myopathy (also called cap disease or congenital myopathy with caps) is a rare inherited muscle condition. In this disorder, skeletal muscles (the muscles ...
Chronic Ataxic Neuropathy, Ophthalmoplegia, Monoclonal Immunoglobulin M Protein, Cold Agglutinin and Disialosyl Antibody Syndrome is a rare, long-lasting, ...
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