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/

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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Smith-Lemli-Opitz syndrome About the Disease GARD

WEBSmith-Lemli-Opitz syndrome (SLOS) is a rare genetic condition affecting multiple body systems. Signs and symptoms may include characteristic facial features, small head …

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Trisomy 18 About the Disease GARD

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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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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Alpha-thalassemia About the Disease GARD

WEBAlpha-thalassemia is a blood disorder that reduces the body's production of hemoglobin. Affected people have anemia, which can cause pale skin, weakness, fatigue, and more …

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Sickle cell anemia About the Disease GARD

WEBThis condition is caused by genetic changes in the HBB gene and is inherited in an autosomal recessive pattern.Sickle cell anemia is a disease in which the body produces …

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Susac syndrome About the Disease GARD

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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Bardet-Biedl syndrome About the Disease GARD

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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Acromegaly About the Disease GARD

WEBAcromegaly is a hormonal disorder that results from the pituitary gland producing too much growth hormone (GH). It is most often diagnosed in middle-aged adults, although …

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Hemoglobin E disease About the Disease GARD

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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Prader-Willi syndrome About the Disease GARD

WEBAbdominal obesity Abnormal cerebral white matter morphology Abnormal facial shape Abnormal rapid eye movement sleep Abnormality of the dentition Almond-shaped …

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Cat-eye syndrome About the Disease GARD

WEBCat eye syndrome is a chromosome abnormality that affects many different parts of the body. The signs and symptoms of the condition vary widely but may include …

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HELLP syndrome About the Disease GARD

WEBHELLP syndrome is a serious condition that can potentially complicate pregnancy. It is named for 3 features of the condition: Hemolysis, Elevated Liver enzyme levels, and …

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Adult-onset Still disease About the Disease GARD

WEBAdult-onset Still disease (AOSD) is an inflammatory condition that affects multiple organs. The most common symptoms are high fevers, skin rash, arthritis, and high levels of …

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Pseudoxanthoma elasticum About the Disease GARD

WEBABCC6 is the only gene known to be associated with this condition.Pseudoxanthoma elasticum, PXE, is an inherited disorder that causes calcium and other minerals to …

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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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