Rarediseases.info.nih.gov

Genetic and Rare Diseases Information Center GARD

WEBDiscover how the Genetic and Rare Diseases Information Center Website and Contact Center can help patients and families who have a rare disease.

Actived: 4 days ago

URL: https://rarediseases.info.nih.gov/

About GARD Genetic and Rare Diseases Information Center

WEBAt GARD, we work to address the public health challenges facing the rare disease community by changing how information is shared. We gather information from different …

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Hypermobile Ehlers-Danlos syndrome About the Disease GARD

WEBHypermobile Ehlers-Danlos syndrome is an inherited connective tissue disorder that is caused by defects in a protein called collagen. It is generally considered the least severe …

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Trisomy 18 About the Disease GARD Genetic and Rare Diseases

WEBTrisomy 18 is a chromosome disorder characterized by having 3 copies of chromosome 18 instead of the usual 2 copies. Signs and symptoms include severe intellectual disability; …

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Crane-Heise syndrome Getting a Diagnosis GARD Genetic and …

WEBBuilding a team of providers to help you get the right diagnosis is an important early step in your rare disease journey. Providers on your diagnostic team may have advanced …

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Sickle cell anemia About the Disease GARD Genetic and Rare

WEBSickle cell anemia is a disease in which the body produces red blood cells that are shaped like crescents or sickles. These cells do not last as long as normal, round, red blood …

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Birt-Hogg-Dubé syndrome About the Disease GARD Genetic …

WEBBirt-Hogg-Dube syndrome (BHDS) is a rare, complex, genetic disorder with three main clinical findings: non-cancerous (benign) skin tumors; lung cysts and/or history of …

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Alpha-1-antitrypsin deficiency About the Disease GARD

WEBAlpha-1 antitrypsin deficiency (AATD) is an inherited disease that causes an increased risk of having chronic obstructive pulmonary disease (COPD), liver disease, skin problems …

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Bardet-Biedl syndrome About the Disease GARD Genetic and …

WEBBardet-Biedl syndrome (BBS) is an inherited condition that affects many parts of the body. People with this syndrome have progressive visual impairment due to cone-rod …

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Hemoglobin E disease About the Disease GARD Genetic and …

WEBHemoglobin E (HbE) disease is a mild, inherited blood disorder characterized by an abnormal form of hemoglobin, called hemoglobin E. People with this condition may have …

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Pure autonomic failure Resources and Support GARD

WEBSome of the biggest challenges the rare disease community faces are finding reliable resources and support. Whether you’re a patient or caregiver, GARD aims to help you …

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WHIM syndrome About the Disease GARD Genetic and Rare …

WEBThe immune system is a complex network of cells, tissues, and organs that together help the body fight infections and other diseases. This system is made up of the skin, mucous …

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Superior mesenteric artery syndrome About the Disease GARD

WEBSuperior mesenteric artery syndrome (SMAS) is a digestive condition that occurs when the duodenum (the first part of the small intestine) is compressed between two arteries (the …

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Contact Us GARD Genetic and Rare Diseases Information Center

WEBAre you or someone you know looking for information about rare diseases? We invite patients, family members, caregivers, and others seeking information about rare …

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Nodular regenerative hyperplasia of the liver

WEBWhy Participate in Clinical Studies? People participate in clinical trials for many reasons. People with a disease may participate to receive the newest possible treatment and …

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47,XYY syndrome About the Disease GARD Genetic and Rare …

WEB47, XYY syndrome is a syndrome (group of signs and symptoms) that affects males. For some males with this syndrome, signs and symptoms are barely noticeable.

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Susac syndrome About the Disease GARD Genetic and Rare …

WEBSusac syndrome is an autoimmune condition that affects the very small blood vessels in the brain, retina, and inner ear (cochlea). The condition is characterized by three main …

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Pseudoxanthoma elasticum About the Disease GARD Genetic …

WEBPseudoxanthoma elasticum, PXE, is an inherited disorder that causes calcium and other minerals to accumulate in the elastic fibers of the skin, eyes, and blood vessels, and less …

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