What is 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency? 6-pyruvoyl-tetrahydropterin synthase (PTPS) deficiency is a rare disorder that results…
Read More
What is ABCC8-related Hyperinsulinism? ABCC8-related hyperinsulinism, also called congenital hyperinsulinism, is an inherited condition in…
Read More
What is Achromatopsia, CNGB3-Related? Achromatopsia, CNGB3-Related is an autosomal recessive condition that causes partial or…
Read More
What is Adenosine Deaminase Deficiency? Adenosine deaminase (ADA) deficiency is a metabolic disease that affects…
Read More
Alkaptonuria is a rare inborn error of metabolism that results in the accumulation of the…
Read More
What is Alpha Thalassemia? Alpha thalassemia is a blood disorder that affects hemoglobin, a major…
Read More
What is Alpha-Mannosidosis? Alpha-mannosidosis is an inherited genetic disease that can cause many different health…
Read More
What is Alpha-Sarcoglycanopathy? Alpha-sarcoglycanopathy, also known as limb-girdle muscular dystrophy type 2D (LGMD2D), is an…
Read More
What is Andermann Syndrome? Andermann syndrome, also called agenesis of corpus callosum with peripheral neuropathy,…
Read More
What is Ataxia With Vitamin E Deficiency? Ataxia with vitamin E deficiency (AVED) is an…
Read More
What is Ataxia-Telangiectasia? Ataxia-telangiectasia (A-T) is an inherited disease which affects a person’s ability to…
Read More
What is Bardet-Biedl Syndrome, BBS1-related? Bardet-Biedl syndrome is an inherited disease that causes vision problems,…
Read More
What is Bardet-Biedl Syndrome, BBS10-related? Bardet-Biedl syndrome is an inherited disease that causes vision problems,…
Read More
What is Bardet-Biedl Syndrome, BBS2-related? Bardet-Biedl syndrome (BBS) is an inherited disease that generally causes…
Read More
What is Beta-Sarcoglycanopathy? Beta-sarcoglycanopathy, also known as limb-girdle muscular dystrophy type 2E (LGMD2E), typically causes…
Read More
What is Biotinidase Deficiency? Biotinidase deficiency is a highly-treatable inherited disease in which the body…
Read More
What Is Bloom Syndrome? Bloom syndrome is an inherited disease that causes a person's chromosomes…
Read More
What is Canavan Disease? Canavan disease is an inherited disorder that destroys the myelin sheath,…
Read More
What is Carnitine Palmitoyltransferase IA Deficiency? Carnitine palmitoyltransferase IA deficiency (CPT1A deficiency) is an inherited…
Read More
What is Carnitine Palmitoyltransferase II Deficiency? Carnitine palmitoyltransferase II deficiency (CPT II deficiency) is an…
Read More
What is Cerebrotendinous Xanthomatosis? Cerebrotendinous xanthomatosis (CTX) is a disease that leads to increased storage…
Read More
Choroideremia is a condition characterized by progressive vision loss that mainly affects males. The first…
Read More
What is Citrullinemia Type 1? Citrullinemia type I is a disease in which ammonia and…
Read More
What is CLN3-related Neuronal Ceroid Lipofuscinosis? CLN3-related neuronal ceroid lipofuscinosis (also known as Batten disease)…
Read More
What is CLN5-related Neuronal Ceroid Lipofuscinosis? CLN5-related neuronal ceroid lipofusciosis (NCL) is an inherited disease…
Read More
What is CLN6-related Neuronal Ceroid Lipofuscinosis? CLN6-related neuronal ceroid lipofuscinosis (NCL6) is an inherited disease…
Read More
What is Cohen Syndrome? Cohen syndrome, also known as Pepper syndrome, is a genetic disorder…
Read More
What is COL4A3-related Alport Syndrome? Alport syndrome is a genetic condition characterized by progressive kidney…
Read More
What is COL4A4-related Alport Syndrome? Alport syndrome is a genetic condition characterized by progressive kidney…
Read More
What is 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia? Congenital adrenal hyperplasia (CAH) refers to a group of…
Read More
What is Congenital Disorder of Glycosylation Type Ia? Congenital disorder of glycosylation type Ia (CDG-Ia)…
Read More
What is Congenital Disorder of Glycosylation Type Ib? Congenital disorder of glycosylation type Ib (CDG-Ib)…
Read More
What is Congenital Disorder of Glycosylation Type Ic? Congenital disorders of glycosylation are a group…
Read More
What is Congenital Finnish Nephrosis? Congenital Finnish nephrosis is an inherited disease in which the…
Read More
What is Costeff Optic Atrophy Syndrome? People with Costeff optic atrophy syndrome, also called 3-methylglutaconic…
Read More
What is Cystic Fibrosis? Cystic fibrosis (CF) is a genetic condition characterized by the production…
Read More
What is Cystinosis? Cystinosis is an inherited disease that causes the amino acid cysteine to…
Read More
What are Duchenne/Becker Muscular Dystrophy? Dystrophinopathies are a group of conditions that generally cause muscle…
Read More
What is Fabry Disease? Fabry disease is a lysosomal storage disorder caused by a deficiency…
Read More
Factor V Leiden thrombophilia is an inherited disorder of blood clotting. Factor V Leiden is…
Read More
Factor XI deficiency is a disorder that can cause abnormal bleeding due to a shortage…
Read More
What is Familial Dysautonomia? Familial dysautonomia is an inherited condition that causes nerve cells to…
Read More
What is Familial Mediterranean Fever? Familial Mediterranean fever (FMF) is an inherited condition which causes…
Read More
What is Fanconi Anemia Type C? Fanconi anemia type C is an inherited disorder in…
Read More
What are FKTN-related Disorders? FKTN-related Disorders includes a spectrum of conditions that cause muscle weakness…
Read More
What is Fragile X Syndrome? Fragile X syndrome is a condition that causes a spectrum…
Read More
What is Galactosemia? Galactosemia is a treatable inherited disease that reduces the body's ability to…
Read More
What is GJB2-related DFNB1 Nonsyndromic Hearing Loss and Deafness? DFNB1 nonsyndromic hearing loss and deafness…
Read More
What are GLB1-related Disorders? GM1-gangliosidosis and mucopolysaccharidosis type IVB (MPSIVB) are two distinct, autosomal recessive…
Read More
More than 200 mutations that cause glucose-6-phosphate dehydrogenase deficiency have been identified in the G6PD…
Read More
What is Glutaric Acidemia Type 1? Glutaric acidemia type 1 (GA I) is an inherited…
Read More
What is Glycogen Storage Disease Type Ia? Glycogen storage disease (GSD) type Ia, sometimes called…
Read More
What is Glycogen Storage Disease Type Ib? Glycogen storage disease (GSD) type Ib is an…
Read More
What is Glycogen Storage Disease Type III? Glycogen storage disease type III (GSD III)—also known…
Read More
What is GRACILE Syndrome? GRACILE syndrome is a fatal inherited disorder caused by a mutation…
Read More
What are HADHA-related Disorders? HADHA-related disorders, including long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHAD) and mitochondrial…
Read More
What is Hb Beta Chain-related Hemoglobinopathy? Hb beta chain-related hemoglobinopathies are a group of inherited…
Read More
What is Hereditary Fructose Intolerance? Hereditary fructose intolerance (HFI) is a condition in which the…
Read More
What is Herlitz Junctional Epidermolysis Bullosa, LAMA3-related? Herlitz junctional epidermolysis bullosa (H-JEB) is an inherited…
Read More
What is Herlitz Junctional Epidermolysis Bullosa, LAMB3-related? Herlitz junctional epidermolysis bullosa (H-JEB) is an inherited…
Read More
What is Herlitz Junctional Epidermolysis Bullosa, LAMC2-related? Herlitz junctional epidermolysis bullosa (H-JEB) is an inherited…
Read More
What is Hexosaminidase A Deficiency? Hexosaminidase A deficiency is an enzyme deficiency that causes brain…
Read More
Researchers have identified more than 20 mutations in the HFE gene that cause a form…
Read More
What is Holocarboxylase Synthetase Deficiency? Holocarboxylase synthetase deficiency is a treatable inherited disease in which…
Read More
What is Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency? Homocystinuria caused by cystathionine beta-synthase deficiency, or…
Read More
What is Hypophosphatasia, Autosomal Recessive? Hypophosphatasia is an inherited disorder that disrupts a process called…
Read More
What is Inclusion Body Myopathy 2? Inclusion body myopathy 2 (IBM2) is an inherited disease…
Read More
What is Isovaleric Acidemia? Isovaleric acidemia (IVA) is an inherited disorder in which the body…
Read More
What is Joubert Syndrome 2? Joubert syndrome 2 (JBTS2) is a disease that causes abnormalities…
Read More
What is KCNJ11-related Familial Hyperinsulinism? KCNJ11-related familial hyperinsulinism (FHI), also called familial hyperinsulinemic hypoglycemia type…
Read More
What is Krabbe Disease? Krabbe disease, also known as globoid cell leukodystrophy, is an inherited…
Read More
Leukoencephalopathy with vanishing white matter is a progressive disorder that mainly affects the brain and…
Read More
What is Lipoamide Dehydrogenase Deficiency? Lipoamide dehydrogenase deficiency (E3) is a rare inherited disease that…
Read More
What is Lysosomal Acid Lipase Deficiency? Lysosomal acid lipase (LAL) deficiency is an inherited disease…
Read More
What is Maple Syrup Urine Disease Type 1b? Maple syrup urine disease (MSUD) type 1b…
Read More
What is Maple Syrup Urine Disease Type Ia? Maple syrup urine disease (MSUD) type Ia…
Read More
What is Maple Syrup Urine Disease Type II? Maple syrup urine disease (MSUD) type II…
Read More
What is Medium Chain Acyl-CoA Dehydrogenase Deficiency? Medium chain acyl-CoA dehydrogenase (MCAD) deficiency is a…
Read More
What is Megalencephalic Leukoencephalopathy With Subcortical Cysts? Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is an…
Read More
What is Metachromatic Leukodystrophy? Metachromatic leukodystrophy (MLD) is an inherited genetic disease which damages the…
Read More
What is Methylmalonic Aciduria and Homocystinuria, cblC Type? Methylmalonic aciduria and homocystinuria, cblC type is…
Read More
At least 40 mutations in the MTHFR gene have been identified in people with homocystinuria,…
Read More
What is Mucolipidosis IV? Mucolipidosis IV is a rare inherited condition that affects the development…
Read More
What is Mucopolysaccharidosis Type I? Mucopolysaccharidosis type I (MPS I) is an inherited disease in…
Read More
What is Mucopolysaccharidosis Type IIIA? Mucopolysaccharidosis type IIIA (MPS IIIA), also known as Sanfilippo syndrome…
Read More
What is Mucopolysaccharidosis Type IIIB? Mucopolysaccharidosis type III B (MPS IIIB) also known as Sanfilippo…
Read More
What is Mucopolysaccharidosis Type IIIC? Mucopolysaccharidosis type IIIC (MPS IIIC), also known as Sanfilippo Type…
Read More
What is Muscle-Eye-Brain Disease? Muscle-eye-brain disease (MEB) is an inherited condition causing a number of…
Read More
What is MUT-related Methylmalonic Acidemia? Methylmalonic acidemia represents a group of disorders that affect the…
Read More
What is NEB-related Nemaline Myopathy? Nemaline myopathy (NEB-related) is a genetic disease that causes weakness…
Read More
What Is Nephrotic Syndrome, NPHS2-Related? Nephrotic syndrome, NPHS2-related is an inherited condition that causes issues…
Read More
What is Niemann-Pick Disease Type C? Niemann-Pick disease type C is an inherited condition in…
Read More
What is Niemann-Pick Disease Type C2? Niemann-Pick disease type C is an inherited condition in…
Read More
What is Niemann-Pick Disease, SMPD1-associated? SMPD1-associated Niemann-Pick disease (NPD) is an inherited disease in which…
Read More
What is Nijmegen Breakage Syndrome? Nijmegen breakage syndrome (NBS) is an inherited disease in which…
Read More
What is Nonsyndromic Hearing Loss and Deafness, MT-RNR1-related? Non-syndromic hearing loss is a partial or…
Read More
What is Northern Epilepsy? Northern epilepsy is an inherited disease that causes seizures and leads…
Read More
What is Ornithine Transcarbamylase Deficiency? Ornithine transcarbamylase (OTC) deficiency is a metabolic disorder that results…
Read More
What is PCCB-related Propionic Acidemia? Propionic acidemia is an inherited condition caused by a deficiency…
Read More
What are PCDH15-related Disorders? PCDH15-related disorders represent a group of disorders associated with hearing loss…
Read More
What is Pendred Syndrome? Pendred syndrome is an inherited condition that affects the body's ability…
Read More
What is Peroxisome Biogenesis Disorder Type 3? Peroxisome biogenesis disorder type 3 (also known as PEX12-related…
Read More
What is Peroxisome Biogenesis Disorder Type 4? Peroxisome biogenesis disorder type 4 (also known as PEX6-related…
Read More
What is Peroxisome Biogenesis Disorder Type 5? Peroxisome biogenesis disorder type 5 (also known as PEX2-related…
Read More
What is Peroxisome Biogenesis Disorder Type 6? Peroxisome biogenesis disorder type 6 (also known as PEX10-related…
Read More
What is PEX1-related Zellweger Syndrome Spectrum? PEX1-related Zellweger syndrome spectrum (ZSS) is an inherited disease…
Read More
What is Phenylalanine Hydroxylase Deficiency? Phenylalanine hydroxylase deficiency is a treatable inherited disease in which…
Read More
What is PKHD1-related Autosomal Recessive Polycystic Kidney Disease? PKHD1-related autosomal recessive polycystic kidney disease (ARPKD)…
Read More
What is Polyglandular Autoimmune Syndrome Type 1? Polyglandular Autoimmune Syndrome Type 1 (PAS-1) is an…
Read More
What is Pompe Disease? Pompe disease, also known as glycogen storage disease type II, is…
Read More
What is PPT1-related Neuronal Ceroid Lipofuscinosis? PPT1-related neuronal ceroid-lipofuscinosis (NCL) is an inherited disease that…
Read More
What is Primary Carnitine Deficiency? Primary carnitine deficiency is a condition in which the body…
Read More
What is Primary Hyperoxaluria Type 1? Primary hyperoxaluria type 1 (PH1) is an inherited disease…
Read More
What is PROP1-related Combined Pituitary Hormone Deficiency? PROP1-related combined pituitary hormone deficiency (CPHD) is an…
Read More
What is Pycnodysostosis? Pycnodysostosis (PYCD), also spelled pyknodysostosis, is an inherited disease that causes the…
Read More
What is Pyruvate Carboxylase Deficiency? Pyruvate carboxylase (PC) deficiency is an inherited enzyme defect that…
Read More
What is Rhizomelic Chondrodysplasia Punctata Type 1? Rhizomelic chondrodysplasia punctata type 1 (RCDP1) is an…
Read More
What is Salla Disease? Salla disease, also called free sialic acid storage disease, is an…
Read More
What is Sandhoff Disease? Sandhoff disease is an inherited, lysosomal storage disorder caused by the…
Read More
What is Segawa Syndrome? Segawa syndrome, also called dopa-responsive dystonia, is an inherited disease that…
Read More
What is Short Chain Acyl-CoA Dehydrogenase Deficiency? Short-chain acyl-CoA dehydrogenase (SCAD) deficiency is an inherited…
Read More
What is Sjogren-Larsson Syndrome? Sjogren-Larsson syndrome (SLS) is an inherited condition with symptoms including dry,…
Read More
What is Smith-Lemli-Opitz Syndrome? Smith-Lemli-Opitz syndrome, or SLO syndrome, is an inherited disorder in which…
Read More
What is Spinal Muscular Atrophy? Spinal muscular atrophy (SMA) is a disease in which certain…
Read More
What is Sulfate Transporter-Related Osteochondrodysplasia? Sulfate transporter-related osteochondrodysplasias are a group of inherited diseases caused…
Read More
What is TGM1-related Autosomal Recessive Congenital Ichthyosis? TGM1-related autosomal recessive congenital ichthyosis (ARCI) is a…
Read More
What is TPP1-related Neuronal Ceroid Lipofuscinosis? TPP1-related neuronal ceroid lipofuscinosis (NCL) is an inherited disease…
Read More
What is Tyrosinemia Type I? Tyrosinemia type I is an inherited metabolic disorder in which…
Read More
What is Usher Syndrome Type 3? Usher syndrome type 3 is an inherited disease that…
Read More
What is Very Long Chain Acyl-CoA Dehydrogenase Deficiency? Very long-chain acyl-coenzyme A dehydrogenase (VLCAD) deficiency…
Read More
What is Wilson Disease? Wilson disease is an inherited disease that causes the body to…
Read More
What is X-Linked Adrenoleukodystrophy? X-linked adrenoleukodystrophy (X-ALD) is a genetic condition that primarily affects the…
Read More
What is X-Linked Congenital Adrenal Hypoplasia? X-linked congenital adrenal hypoplasia (XLCAH), is a disease caused…
Read More
What is X-Linked Ichthyosis? X-linked ichthyosis is a genetic disorder caused by a mutation in…
Read More
What is X-Linked Juvenile Retinoschisis? X-linked juvenile retinoschisis is an inherited eye disorder that makes…
Read More