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Diseases

Genetic and Rare Diseases Information Center (GARD)

Search for Rare or Genetic Diseases


Newborn Screening

* This symbol indicates that a condition is not rare but is one for which a question has been answered by the GARD Information Center.
Is Rare Condition? Disease Name
* 2,4-Dienoyl-CoA reductase deficiency
* 2-methyl-3-hydroxybutyric aciduria
* 2-methylbutyryl-CoA dehydrogenase deficiency
* 21-hydroxylase deficiency
* 3 Methylcrotonyl-CoA carboxylase 1 deficiency
* 3 methylglutaconic aciduria type I
* 3 methylglutaconic aciduria type IV
* 3 methylglutaconic aciduria type V
* 3-alpha hydroxyacyl-CoA dehydrogenase deficiency
* 3-methylcrotonyl-CoA carboxylase deficiency
* 3-methylglutaconic aciduria type III
* Adult-onset citrullinemia type II
* AGAT deficiency
* Alpha 1-antitrypsin deficiency
* Barth syndrome
* Becker muscular dystrophy
* Benign hyperphenylalaninemia
* Beta ketothiolase deficiency
* Biotinidase deficiency
* Carbamoyl phosphate synthetase 1 deficiency
* Carnitine palmitoyl transferase 1 deficiency
* Carnitine palmitoyltransferase 2 deficiency
* Carnitine palmitoyltransferase I deficiency , muscle
* Carnitine-acylcarnitine translocase deficiency
* Citrullinemia type I
* Congenital cytomegalovirus
* Congenital human immunodeficiency virus
* Congenital hypothyroidism
*   Congenital toxoplasmosis
* Cystic fibrosis
*   Diabetes mellitus type 1
* Duchenne muscular dystrophy
* Ethylmalonic encephalopathy
* Fragile X syndrome
* Galactokinase deficiency
* Galactose epimerase deficiency
* Galactosemia
* Glucose-6-phosphate dehydrogenase deficiency
* Glutamate formiminotransferase deficiency
* Glutaric acidemia type I
* Glutaric acidemia type II
* Glycine N-methyltransferase deficiency
* Gyrate atrophy of choroid and retina
* Hemoglobin E disease
* Hemoglobin SC disease
* HMG CoA lyase deficiency
* Holocarboxylase synthetase deficiency
* Homocystinuria due to CBS deficiency
*   Hypercholesterolemia, autosomal dominant
* Hyperlysinemia
* Hyperprolinemia
* Hyperprolinemia type 2
* Isobutyryl-CoA dehydrogenase deficiency
* Isovaleric acidemia
* Kernicterus
* Krabbe leukodystrophy
* LCHAD deficiency
* Malonyl-CoA decarboxylase deficiency
* Maple syrup urine disease
* Medium-chain 3-ketoacyl-coa thiolase deficiency
* Medium-chain acyl-coenzyme A dehydrogenase deficiency
* Methionine adenosyltransferase deficiency
* Methylmalonic acidemia
* Methylmalonic acidemia with homocystinuria
* Methylmalonic aciduria cblA type
* Methylmalonic aciduria cblB type
* Methylmalonicacidemia with homocystinuria cbl d
* Mitochondrial trifunctional protein deficiency
* Mucopolysaccharidosis type I
* Ornithine transcarbamylase deficiency
* Ornithine translocase deficiency syndrome
* Phenylketonuria
* Primary carnitine deficiency
* Propionic acidemia
* Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive
* Short chain acyl CoA dehydrogenase deficiency
* Sickle beta thalassemia
* Sickle cell disease
* Tetrahydrobiopterin deficiency
* Turner syndrome
* Tyrosinemia type 1
* Tyrosinemia type 2
* Tyrosinemia type 3
* VLCAD deficiency
* Wilson disease
* X-linked creatine deficiency
* X-linked severe combined immunodeficiency