Echinococcus Multilocularis Disease
Echinococcus multilocularis disease is an infection caused by a tiny tapeworm called Echinococcus multilocularis. People get it when they swallow parasite eggs, usually from food, water, soil, or ...
Rx Autoimmune, Genetic and Rare Diseases (A – Z)
Alveolar Capillary Dysplasia (ACD/MPV)
Alveolar capillary dysplasia (ACD) is a very rare birth condition that affects a baby’s lungs. In ACD, the tiny blood vessels (capillaries) that should sit right next to the air sacs (alveoli) are ...
Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins (ACD/MPV)
Alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV) is a rare, life-threatening lung development disorder that begins before birth. In a healthy newborn, countless tiny air ...
Congenital Adrenal Gland Hypoplasia (AHC)
Congenital adrenal gland hypoplasia means a baby is born with adrenal glands that did not grow or form normally during pregnancy. The adrenal glands sit above the kidneys. They make vital hormones: ...
Adrenal Hypoplasia Congenita (AHC)
Adrenal hypoplasia congenita (AHC) means a baby is born with adrenal glands that did not grow properly during pregnancy. The adrenal glands sit above the kidneys. They make vital hormones: cortisol ...
Alternating Hemiplegia of Childhood
Alternating hemiplegia of childhood (AHC) is a rare brain disorder that starts in early life. A child has repeated attacks where one side of the body becomes weak or paralyzed. The side can change ...
Alström Syndrome
Alström syndrome is a very rare genetic disease that affects many parts of the body over time. Babies and young children often develop eyesight problems very early in life, then hearing problems. ...
Alport Syndrome–Intellectual Disability–Midface Hypoplasia–Elliptocytosis (AMME) Syndrome
This rare condition is a genetic syndrome that affects several parts of the body at the same time. People with this syndrome usually have signs of Alport syndrome (blood in the urine, kidney ...
Alport Deafness-Nephropathy
Alport deafness-nephropathy is a genetic disease that affects tiny filter membranes in the kidney, the inner ear, and parts of the eye. These membranes are made of a structural protein called type IV ...
Alpha-thalassemia–Myelodysplastic Syndrome (AT-MDS)
Alpha-thalassemia–myelodysplastic syndrome (ATMDS)—also called acquired alpha-thalassemia with MDS, acquired HbH disease in MDS, or acquired α-thalassemia associated with clonal myeloid disease—is a ...
Schindler Disease Type 3
Schindler disease type 3 is a very rare inherited condition. It happens when the body does not make enough of a lysosomal enzyme called alpha-N-acetylgalactosaminidase (NAGA). Lysosomes are the ...
Alpha-N-acetylgalactosaminidase (NAGA) Deficiency Type 3
Alpha-N-acetylgalactosaminidase deficiency (often shortened to NAGA deficiency) is a very rare, inherited (passed from parents to children) condition. The body is missing or has very low activity of ...
Schindler Disease Type 2
Schindler disease type 2 is a very rare inherited (passed from parents) condition. It happens because the body does not make enough of an enzyme called alpha-N-acetylgalactosaminidase (alpha-NAGA). ...
Kanzaki Disease
Kanzaki disease is a very rare inherited condition. It happens when the body does not have enough working of an enzyme called alpha-N-acetylgalactosaminidase (alpha-NAGA). Enzymes are tiny workers ...
Adult-Onset Alpha-N-Acetylgalactosaminidase Deficiency
Adult-onset alpha-N-acetylgalactosaminidase deficiency is a very rare inherited (genetic) condition. In this condition, a body enzyme called alpha-N-acetylgalactosaminidase (NAGA) does not work well. ...
Alpha-N-acetylgalactosaminidase (NAGA) Deficiency Type 2
Alpha-N-acetylgalactosaminidase deficiency is a rare genetic condition in which the body does not make enough of an enzyme called alpha-N-acetylgalactosaminidase (alpha-NAGA). Enzymes are tiny ...
Alpha-N-acetylgalactosaminidase (NAGA) Deficiency Type 1
Alpha-N-acetylgalactosaminidase deficiency type 1 is a very rare, inherited (from both parents) disease of the body’s “recycling centers,” called lysosomes. In healthy cells, an enzyme named ...
Schindler Disease
Schindler disease is a very rare inherited (genetic) condition. People with this disorder do not have enough of an enzyme called alpha-N-acetylgalactosaminidase (alpha-NAGA). This enzyme normally ...
NAGA deficiency (Alpha-N-Acetylgalactosaminidase Deficiency)
NAGA deficiency is a very rare inherited disease where the body does not make enough of an enzyme called alpha-N-acetylgalactosaminidase (often shortened to alpha-NAGA or just NAGA). This enzyme ...
Disorder of Alpha-N-Acetylgalactosaminidase Activity (alpha-NAGA)
Alpha-N-acetylgalactosaminidase—often shortened to alpha-NAGA—is a small worker-enzyme that lives inside the cell’s “recycling centers,” which are called lysosomes. Its everyday job is to cut off a ...
