Alpha-N-acetylgalactosaminidase deficiency is a very rare inherited (runs in families) disease. It happens when the body does not make enough of one cleaning enzyme inside cells, called ...
Mannosidosis is a rare genetic disease. It belongs to a group called lysosomal storage disorders. Lysosomes are tiny recycling centers inside our cells. They break down old or used parts of proteins ...
Alpha-mannosidosis is a rare, inherited disease. A child is born with it when both parents pass down a changed copy of a gene called MAN2B1. This gene makes an enzyme named alpha-D-mannosidase. The ...
Alpha-mannosidase deficiency—also called alpha-mannosidosis—is a rare inherited disease. It happens when the body does not make enough of an enzyme called alpha-mannosidase. This enzyme lives inside ...
Alpha-D-mannosidosis is a rare, inherited, metabolic disease. It happens when the body does not make enough of an enzyme called lysosomal alpha-mannosidase. Enzymes are tiny “machines” that break ...
Alpha-mannosidosis is a rare, inherited metabolic disease. It happens because the body does not make enough of an enzyme called lysosomal alpha-mannosidase. This enzyme’s job is to break down certain ...
Antiplasmin deficiency is a rare bleeding disorder. In healthy blood, clots form to stop bleeding and then slowly dissolve when healing is done. A protein called alpha-2-antiplasmin (α2-antiplasmin) ...
Hemorrhagic diathesis due to antithrombin Pittsburgh is a very rare bleeding disorder caused by a special change (mutation) in the alpha-1 antitrypsin (AAT) protein. In this mutation, one building ...
Alpha-1 antitrypsin deficiency (AATD) is an inherited condition. Your liver makes too little of a protective protein called alpha-1 antitrypsin (AAT), or it makes a version that is the wrong shape. ...
Devriendt-Vandenberghe-Fryns (DVF) syndrome is a very rare genetic condition first described in two brothers. It combines three main features: (1) complete hair loss present from birth (total ...
Alopecia-intellectual disability syndrome 2 is a very rare genetic condition. It affects hair growth and brain development. People usually have little or no scalp hair and mild to moderate ...
Shokeir syndrome is a rare and often lethal condition that starts before birth. Babies move very little in the womb (called fetal akinesia). Because of the lack of movement, they develop multiple ...
Alopecia universalis means complete loss of hair on the scalp and the whole body. The word congenita means the condition is present at birth or starts very early in life (usually in the first ...
IPP-Gelfand syndrome is a very rare immune system condition in which a person has severe hair loss (often total scalp hair loss, “alopecia totalis”) together with a defect in making antibodies. ...
Alopecia antibody deficiency is a rare condition where a person has significant hair loss (usually alopecia areata, totalis, or universalis) together with an immune system problem called an “antibody ...
Perniola-Krajewska-Carnevale syndrome is a very rare genetic condition. Children are usually born healthy in terms of vital signs, but they show two main features: little or no hair (alopecia) and ...
Alopecia–Intellectual Disability Syndrome is a very rare inherited condition. People with this syndrome have hair loss (sometimes on the whole body, sometimes only on the scalp, eyebrows, and ...
Alopecia–Contractures–Dwarfism–Intellectual Disability syndrome (ACD syndrome) is a very rare genetic condition. “Genetic” means it starts before birth because of changes in DNA. The main signs are: ...
X-linked intellectual disability–hypotonia syndrome is a genetic condition that mainly affects the brain, nerves, and muscles. “X-linked” means the change is on the X chromosome. “Intellectual ...
Monocarboxylate transporter 8 deficiency is also called Allan-Herndon-Dudley syndrome (AHDS), SLC16A2-related disorder, X-linked intellectual disability–hypotonia syndrome, and thyroid hormone ...
