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Enfermedad de Menkes | Sobre la enfermedad | GARD La enfermedad de Menkes es causada por mutaciones en el gen ATP7A que resultan en un transporte anormal de cobre Cuando el transporte del cobre en las células intestinales se deteriora, los niveles de cobre en la sangre bajan
Occipital horn syndrome | About the Disease | GARD This condition is a milder form of Menkes disease, which affects copper levels in the body OHS is caused by genetic changes (DNA variants) in the ATP7A gene, and it is inherited in an x-linked recessive pattern It can be diagnosed based on the symptoms, genetic testing, and other blood tests
Wilson disease | About the Disease | GARD - Genetic and Rare Diseases . . . Wilson disease is a rare inherited disorder that is characterized by the accumulation of copper in the body Because high levels of copper are toxic to tissues and organs, this buildup can lead to damage of the liver, brain and eyes Signs and symptoms of Wilson disease include chronic liver disease, central nervous system abnormalities, and psychiatric (mental health-related) disturbances It
Hennekam syndrome | About the Disease | GARD - Genetic and Rare . . . Hennekam syndrome is a rare condition that affects the lymphatic system Signs and symptoms of the condition are generally noticeable at birth and vary significantly from person to person, even within the same family Affected people generally experience lymphangiectasia (lymphatic vessels that are abnormally expanded), lymphedema, and distinctive facial features (i e a flattened appearance
Síndrome de Hennekam | Sobre la enfermedad | GARD El síndrome de Hennekam es una enfermedad hereditaria que resulta de malformación del sistema linfático que está compuesto por una red de vasos que transportan un líquido llamado linfa en todo el cuerpo La linfa contiene glóbulos blancos que protegen el cuerpo contra los gérmenes El sistema linfático elimina la infección y mantiene el equilibrio de los líquidos del cuerpo Si no
Pili torti | About the Disease | GARD - Genetic and Rare Diseases . . . Pili torti is a rare hair condition characterized by fragile hair In Pili torti hair has a flattened shaft with clusters of narrow twists at irregular intervals Some cases may be inherited in autosomal dominant or autosomal recessive patterns, while others are acquired In the inherited form, symptoms tend to be present from early childhood It can occur alone or as part of other diseases
Diseases | GARD Browse by Disease Explore GARD's list of rare diseases Filter by category or search by disease name, acronym, or synonym Rare diseases found on GARD should not be used as policy statements of NCATS or the NIH