Desert Fever
Desert fever is an infection caused by a tiny fungus that lives in dry, dusty soil in some parts of the Americas. When the soil is disturbed, the fungus breaks into very small spores (tiny ...
Rx Blood, Metabolism, and Infectious Diseases (A – Z)
Coccidioides Immitis Infectious Disease
Coccidioides Immitis Infectious Disease is a lung disease caused by a fungus that lives in dry soil in some parts of the Americas. When the soil is disturbed, tiny spores go into the air, people ...
Coccidioides Immitis Disease
Coccidioides immitis disease is a fungal infection that doctors call coccidioidomycosis or “Valley fever.” It happens when tiny spores of the fungus Coccidioides immitis (and its close relative C. ...
California Disease
California disease is another name for coccidioidomycosis, also called Valley fever. It is an infection caused by a fungus called Coccidioides that lives in dry soil in parts of California, Arizona, ...
Deficiency of Methylcysteine Synthase
Deficiency of methylcysteine synthase is another name for cystathionine beta-synthase (CBS) deficiency, also called classic homocystinuria. In this disease, a body enzyme (CBS) that normally changes ...
Deficiency of Beta-Thionase
Deficiency of beta-thionase is almost always talking about beta-ketothiolase deficiency, also called mitochondrial acetoacetyl-CoA thiolase deficiency or ACAT1 deficiency. In this rare genetic ...
Deficiency of Uridine Triphosphate-Hexose-1-Phosphate Uridylyltransferase
Deficiency of uridine triphosphate-hexose-1-phosphate uridylyltransferase (also called galactose-1-phosphate uridylyltransferase, GALT) is a rare genetic disease. In this disease, the body cannot ...
Deficiency of Uridine Diphosphate-Glucose–Hexose-1-Phosphate Uridylyltransferase
Deficiency of uridine diphosphate-glucose–hexose-1-phosphate uridylyltransferase means that the body is missing or has very low activity of an enzyme called galactose-1-phosphate uridyltransferase ...
Deficiency of UDP-Glucose–Hexose-1-Phosphate Uridylyltransferase
Deficiency of UDP-glucose–hexose-1-phosphate uridylyltransferase means the body is missing or has very low activity of an enzyme called galactose-1-phosphate uridylyltransferase (GALT). This enzyme ...
CIDEC-Related Familial Partial Lipodystrophy
CIDEC-related familial partial lipodystrophy is a very rare inherited disease where body fat is not spread in a normal way. In this condition, fat under the skin is missing in some parts of the body, ...
Chuvash Erythrocytosis
Chuvash erythrocytosis is a rare, inherited blood disease where the body makes too many red blood cells from birth and throughout life. It is caused by a change (mutation) in a gene called VHL, which ...
Chronic Mucocutaneous Candidiasis (CMC)
Chronic mucocutaneous candidiasis (CMC) is a long-lasting infection with Candida (a yeast or fungus) that keeps coming back on the skin, nails, and wet body surfaces like the mouth, throat, and ...
Neonatal-Onset Multisystem Inflammatory Disease (NOMID)
Neonatal-onset multisystem inflammatory disease (NOMID) is a very rare genetic disease where the immune system is “over-active” from birth and causes strong, long-lasting inflammation in many parts ...
Chronic Diarrhea with Villous Atrophy
Chronic diarrhea with villous atrophy means a person has loose or watery stools that last for more than four weeks, and a biopsy from the small intestine shows that the “villi” are flat or damaged. ...
Maltase-Glucoamylase Deficiency
Maltase-glucoamylase deficiency is a rare problem in the small intestine where the body cannot properly break down starch (long chains of glucose) into single sugar units. Because the enzyme ...
Chronic Diarrhea due to Glucoamylase Deficiency
Chronic diarrhea due to glucoamylase deficiency is a rare gut disease where the small intestine does not have enough of the enzyme glucoamylase (also called maltase-glucoamylase). This enzyme ...
Mossy Foot Disease
Mossy foot disease is a long-term swelling of the feet and lower legs that happens when people walk barefoot for many years on special irritant soils, usually red volcanic clay in highland tropical ...
Chromoblastomycosis
Chromoblastomycosis is a long-lasting (chronic) fungal infection that affects the skin and the tissue just under the skin (subcutaneous tissue). In this disease, special dark (pigmented) fungi from ...
Chromomycosis
Chromomycosis (more correctly called chromoblastomycosis) is a long-lasting fungal infection of the skin and the layer of fat just under the skin. It happens when special dark-colored fungi from ...
Chorea Remitting, with Nystagmus and Cataract
Chorea, remitting, with nystagmus and cataract is an extremely rare, inherited brain and eye condition. It causes three main problems in the same child: chorea (fast, jerky, dance-like movements), ...
