Deficiency of hexose-1-phosphate uridylyltransferase means that the body has very low or no activity of an enzyme called galactose-1-phosphate uridylyltransferase (GALT). This enzyme normally helps ...
Deficiency of galactose-1-phosphate uridyl transferase (usually written GALT deficiency) is a genetic disease where the body is missing, or has very low activity of, an enzyme needed to break down a ...
Classic galactosemia is a rare genetic disease that affects how the body uses a sugar called galactose, which is found in milk and many milk-based foods. In this disease, the body does not have ...
Classic familial adenomatous polyposis is an inherited disease where a person grows hundreds to thousands of small growths, called polyps, inside the large intestine (colon) and rectum. These polyps ...
21-hydroxylase-deficient congenital adrenal hyperplasia (CAH) is a genetic disease that affects how the adrenal glands make important hormones called cortisol and aldosterone. The adrenal glands are ...
Classic congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is a genetic disease that affects the adrenal glands, which are small organs that sit on top of each kidney. In this ...
Autosomal dominant intellectual disability 49 is a very rare genetic brain-development problem. It is also called Clark-Baraitser syndrome and is caused by a change (mutation) in one copy of a gene ...
Clark-Baraitser syndrome (often shortened to CLABARS) is a very rare genetic condition that affects how a child’s brain, body growth, and face develop. Children usually have learning problems, ...
CLAPO syndrome is a very rare health condition that mostly affects the skin, blood vessels, lymph vessels, and the growth of some body parts. The name “CLAPO” is built from its main signs: Capillary ...
X-linked intellectual disability–microcephaly–cortical malformation–thin habitus syndrome is a very rare genetic disease that mainly affects boys. Doctors also call it CK syndrome. In this condition, ...
CK syndrome is a very rare genetic brain and body disorder that mainly affects boys and starts in early life. It is an X-linked recessive condition, which means the faulty gene sits on the X ...
Adult-onset citrin deficiency is a rare, lifelong genetic disease that mainly affects the liver and the brain. In this condition, a gene called SLC25A13 does not work properly. This gene normally ...
Citrullinemia type II is a rare inherited disease in which the liver cannot use a substance called citrin properly, so ammonia and some amino acids build up in the blood. This problem happens because ...
Argininosuccinate synthetase deficiency (ASS1 deficiency) is a rare, inherited disease of the urea cycle. The urea cycle is the process in the liver that changes extra nitrogen (in the form of ...
Argininosuccinate synthase 1–gene related citrullinemia type I is a rare, serious genetic disease of the urea cycle. In this disease the ASS1 gene does not work properly, so the enzyme ...
Citrullinemia type I is a rare inherited disease of the urea cycle, which is the process in the liver that removes extra nitrogen from the body. In this disease, the body cannot remove nitrogen ...
Dystonia-parkinsonism-hypermanganesemia-polycythemia and chronic liver disease is a very rare inherited disease. In this condition, a gene called SLC30A10 does not work properly. Because of this, the ...
Cirrhosis–dystonia–polycythemia–hypermanganesemia syndrome is a very rare genetic disease where the body cannot properly remove extra manganese, a metal that is normally needed in very small amounts. ...
Ciliary dyskinesia with transposition of ciliary microtubules is a rare genetic problem that affects tiny hair-like structures in the body called cilia. Cilia sit on the surface of cells in the nose, ...
Familial partial lipodystrophy type 5 (FPLD5) is a very rare genetic disease where fat under the skin (subcutaneous fat) is lost from some parts of the body but kept or even increased in other parts. ...
