domingo, 27 de enero de 2019

Metabolic disorders | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program

Metabolic disorders | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program

National Center for Advancing and Translational Sciences

Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Metabolic disorders

17-alpha-hydroxylase deficiency 
17-beta hydroxysteroid dehydrogenase 3 deficiency 
18 Hydroxylase deficiency 
2-Hydroxyglutaric aciduria 
2-methyl-3-hydroxybutyric aciduria 
2-methylbutyryl-CoA dehydrogenase deficiency 
3 Methylcrotonyl-CoA carboxylase 1 deficiency 
3-alpha hydroxyacyl-CoA dehydrogenase deficiency 
3-Hydroxyisobutyric aciduria 
3-methylcrotonyl-CoA carboxylase deficiency 
3-methylglutaconyl-CoA hydratase deficiency (AUH defect) 
5-oxoprolinase deficiency 
6-pyruvoyl-tetrahydropterin synthase deficiency 
Abdominal obesity metabolic syndrome 
Acetyl CoA acetyltransferase 2 deficiency 
Acetyl-carnitine deficiency 
Acrodermatitis enteropathica 
Acute intermittent porphyria 
Adenine phosphoribosyltransferase deficiency 
Adenosine deaminase deficiency 
Adenosine monophosphate deaminase 1 deficiency 
Adenylosuccinase deficiency 
Adult polyglucosan body disease 
Adult-onset citrullinemia type II 
Albinism deafness syndrome 
Albinism ocular late onset sensorineural deafness 
Alpers syndrome 
Alpha-1 antitrypsin deficiency 
Alpha-ketoglutarate dehydrogenase deficiency 
Aminoacylase 1 deficiency 
Anemia due to Adenosine triphosphatase deficiency 
Anemia sideroblastic and spinocerebellar ataxia 
Apparent mineralocorticoid excess 
Arginase deficiency 
Argininosuccinic aciduria 
Aromatic L-amino acid decarboxylase deficiency 
Arthrogryposis renal dysfunction cholestasis syndrome 
Arts syndrome 
Ataxia with oculomotor apraxia type 1 
Ataxia with vitamin E deficiency 
Atypical Gaucher disease due to saposin C deficiency - See Gaucher disease 
Autoimmune polyglandular syndrome type 2 
Autosomal dominant neuronal ceroid lipofuscinosis 4B 
Autosomal dominant optic atrophy and cataract 
Autosomal dominant optic atrophy plus syndrome 
Autosomal recessive neuronal ceroid lipofuscinosis 4A - See Adult neuronal ceroid lipofuscinosis 
Autosomal recessive spastic ataxia 4 
Autosomal recessive spinocerebellar ataxia 9 
Bantu siderosis 
Barth syndrome 
Bartter syndrome 
Bartter syndrome antenatal type 1 
Bartter syndrome antenatal type 2 
Bartter syndrome type 3 
Bartter syndrome type 4 
Beta ketothiolase deficiency 
Biotin-thiamine-responsive basal ganglia disease 
Biotinidase deficiency 
Bjornstad syndrome 
Blue diaper syndrome 
Carbamoyl phosphate synthetase 1 deficiency 
Carnitine palmitoyl transferase 1 deficiency 
Carnitine palmitoyltransferase I deficiency , muscle 
Carnitine-acylcarnitine translocase deficiency 
Central diabetes insipidus 
Cerebral folate deficiency 
Cerebrotendinous xanthomatosis 
Ceroid lipofuscinosis neuronal 1 
Chanarin-Dorfman syndrome 
Chediak-Higashi syndrome 
CHILD syndrome 
Childhood hypophosphatasia 
Childhood-onset cerebral X-linked adrenoleukodystrophy 
Cholesteryl ester storage disease 
Chondrocalcinosis 1 
Chondrocalcinosis 2 
Chondrocalcinosis due to apatite crystal deposition 
Chondrodysplasia punctata 1, X-linked recessive 
Chronic progressive external ophthalmoplegia 
Chylomicron retention disease 
Citrulline transport defect 
Combined oxidative phosphorylation deficiency 16 
Congenital bile acid synthesis defect, type 1 
Congenital bile acid synthesis defect, type 2 
Congenital disorder of glycosylation type I/IIX 
Congenital dyserythropoietic anemia type 2 
Congenital erythropoietic porphyria 
Congenital lactase deficiency 
Congenital muscular dystrophy-dystroglycanopathy with or without intellectual disability (type B) 
Copper deficiency, familial benign 
CoQ-responsive OXPHOS deficiency 
Crigler Najjar syndrome, type 1 
Crigler-Najjar syndrome type 2 
Cystinosis, ocular nonnephropathic 
Cytochrome c oxidase deficiency 
D-2-hydroxyglutaric aciduria 
D-bifunctional protein deficiency 
Danon disease 
DCMA syndrome 
Deafness, dystonia, and cerebral hypomyelination 
Dentatorubral-pallidoluysian atrophy 
Diamond-Blackfan anemia 
Dicarboxylic aminoaciduria 
Dihydrolipoamide dehydrogenase deficiency 
Dihydropteridine reductase deficiency 
Dihydropyrimidinase deficiency 
Dihydropyrimidine dehydrogenase deficiency - Not a rare disease 
Dipsogenic diabetes insipidus 
Dopa-responsive dystonia 
Dopamine beta hydroxylase deficiency 
Dowling-Degos disease 
Dubin-Johnson syndrome 
Encephalopathy due to prosaposin deficiency - See Sphingolipidosis 
Erythropoietic protoporphyria 
Erythropoietic uroporphyria associated with myeloid malignancy 
Ethylmalonic encephalopathy 
Fabry disease 
Familial HDL deficiency 
Familial hypocalciuric hypercalcemia type 1 
Familial hypocalciuric hypercalcemia type 2 
Familial hypocalciuric hypercalcemia type 3 
Familial LCAT deficiency 
Familial partial lipodystrophy type 2 
Fanconi Bickel syndrome 
Farber's disease 
Fatal infantile encephalomyopathy 
Fatty acid hydroxylase-associated neurodegeneration 
Fish-eye disease 
Fructose-1,6-bisphosphatase deficiency 
Fukuyama type muscular dystrophy 
Fumarase deficiency 
Galactokinase deficiency 
Gamma aminobutyric acid transaminase deficiency 
Gamma-cystathionase deficiency 
Gaucher disease 
Gaucher disease - ophthalmoplegia - cardiovascular calcification - See Gaucher disease 
Gaucher disease perinatal lethal 
Gaucher disease type 1 
Gaucher disease type 2 
Gaucher disease type 3 
Gestational diabetes insipidus 
Gilbert syndrome - Not a rare disease 
Gitelman syndrome 
Glucose transporter type 1 deficiency syndrome 
Glucose-galactose malabsorption 
Glutamate formiminotransferase deficiency 
Glutamine deficiency, congenital 
Glutaric acidemia type I 
Glutaric acidemia type II 
Glutaric acidemia type III 
Glutathione synthetase deficiency 
Glycine N-methyltransferase deficiency 
Glycogen storage disease 8 
Glycogen storage disease type 0, liver 
Glycogen storage disease type 12 
Glycogen storage disease type 13 
Glycogen storage disease type 1A 
Glycogen storage disease type 1B 
Glycogen storage disease type 3 
Glycogen storage disease type 5 
Glycogen storage disease type 6 
Glycogen storage disease type 7 
GM1 gangliosidosis type 1 
GM1 gangliosidosis type 2 
GM1 gangliosidosis type 3 
GM3 synthase deficiency 
GRACILE syndrome 
Greenberg dysplasia 
GTP cyclohydrolase I deficiency 
Guanidinoacetate methyltransferase deficiency 
Gyrate atrophy of choroid and retina 
Haim-Munk syndrome 
Hartnup disease 
Hemochromatosis type 2 
Hemochromatosis type 3 
Hemochromatosis type 4 
Hepatic lipase deficiency 
Hepatoerythropoietic porphyria 
Hereditary amyloidosis 
Hereditary coproporphyria 
Hereditary folate malabsorption 
Hereditary fructose intolerance 
Hereditary hyperekplexia 
Hereditary multiple osteochondromas 
Hereditary orotic aciduria without megaloblastic anaemia 
Hereditary sensory and autonomic neuropathy type 1E 
Hereditary sensory neuropathy type 1 
Hermansky Pudlak syndrome 2 
HMG CoA lyase deficiency 
Homocystinuria due to CBS deficiency 
Homocystinuria due to MTHFR deficiency 
Hurler syndrome 
Hurler–Scheie syndrome 
Hyper-IgD syndrome 
Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency 
Hyperinsulinism due to glucokinase deficiency 
Hyperinsulinism-hyperammonemia syndrome 
Hyperlipidemia type 3 
Hyperlipoproteinemia type 5 
Hyperphenylalaninemia due to dehydratase deficiency 
Hyperprolinemia type 2 
I cell disease 
Imerslund-Grasbeck syndrome 
Inclusion body myopathy 2 
Inclusion body myopathy 3 
Infantile free sialic acid storage disease - See Free sialic acid storage disease 
Infantile neuroaxonal dystrophy 
Infantile onset spinocerebellar ataxia 
Insulin-like growth factor I deficiency 
Intrinsic factor deficiency 
Isobutyryl-CoA dehydrogenase deficiency 
Isovaleric acidemia 
Kanzaki disease 
Kearns-Sayre syndrome 
Krabbe disease atypical due to Saposin A deficiency 
L-2-hydroxyglutaric aciduria 
L-arginine:glycine amidinotransferase deficiency 
Lactate dehydrogenase A deficiency 
Lactate dehydrogenase deficiency 
LCHAD deficiency 
Leber hereditary optic neuropathy 
Leigh syndrome, French Canadian type 
Lesch Nyhan syndrome 
Leucine-sensitive hypoglycemia of infancy 
Leukoencephalopathy - dystonia - motor neuropathy 
Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation 
Limb-girdle muscular dystrophy type 2I 
Limb-girdle muscular dystrophy type 2K - See Limb-girdle muscular dystrophy 
Limb-girdle muscular dystrophy type 2M - See Limb-girdle muscular dystrophy 
Limb-girdle muscular dystrophy type 2N - See Limb-girdle muscular dystrophy 
Limb-girdle muscular dystrophy type 2O - See Limb-girdle muscular dystrophy 
Limb-girdle muscular dystrophy type 2T - See Limb-girdle muscular dystrophy 
Limb-girdle muscular dystrophy, type 2C 
Lipase deficiency combined 
Lipoic acid synthetase deficiency 
Lipoid proteinosis of Urbach and Wiethe 
Lowe oculocerebrorenal syndrome 
Lysinuric protein intolerance 
Malonyl-CoA decarboxylase deficiency 
Mannose-binding lectin protein deficiency - Not a rare disease 
Mannosidosis, beta A, lysosomal 
Maple syrup urine disease type 1A 
Maple syrup urine disease type 1B 
Maple syrup urine disease type 2 
Maternal hyperphenylalaninemia 
Maternally inherited diabetes and deafness 
Medium-chain acyl-coenzyme A dehydrogenase deficiency 
Megaloblastic anemia due to dihydrofolate reductase deficiency 
Menkes disease 
Metachromatic leukodystrophy 
Metachromatic leukodystrophy due to saposin B deficiency 
Methionine adenosyltransferase deficiency 
Methylcobalamin deficiency cbl G type 
Methylmalonic acidemia with homocystinuria type cblC 
Methylmalonic acidemia with homocystinuria type cblD 
Methylmalonic acidemia with homocystinuria type cblF 
Methylmalonic acidemia with homocystinuria type cblJ 
Methylmalonic aciduria, cblA type 
Methylmalonic aciduria, cblB type 
Mevalonic aciduria 
Mild phenylketonuria 
Mitochondrial complex I deficiency 
Mitochondrial complex II deficiency 
Mitochondrial complex III deficiency 
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria 
Mitochondrial DNA-associated Leigh syndrome 
Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes 
Mitochondrial myopathy with diabetes 
Mitochondrial myopathy with lactic acidosis 
Mitochondrial neurogastrointestinal encephalopathy syndrome 
Mitochondrial trifunctional protein deficiency 
Mohr-Tranebjaerg syndrome 
Molybdenum cofactor deficiency 
Monogenic diabetes - Not a rare disease 
Morquio syndrome B 
MPV17-related hepatocerebral mitochondrial DNA depletion syndrome 
Mucolipidosis III alpha/beta 
Mucolipidosis type 4 
Mucopolysaccharidosis type II 
Mucopolysaccharidosis type III 
Mucopolysaccharidosis type IIIA 
Mucopolysaccharidosis type IIIB 
Mucopolysaccharidosis type IIIC 
Mucopolysaccharidosis type IIID 
Mucopolysaccharidosis type IVA 
Mucopolysaccharidosis type VI 
Mucopolysaccharidosis type VII 
Multiple congenital anomalies-hypotonia-seizures syndrome 
Multiple congenital anomalies-hypotonia-seizures syndrome type 2 
Multiple endocrine neoplasia type 2B 
Multiple sulfatase deficiency 
Multiple symmetric lipomatosis 
Muscle eye brain disease 
Muscular dystrophy, congenital, megaconial type 
Muscular phosphorylase kinase deficiency 
Musculocontractural Ehlers-Danlos syndrome 
Myoclonic epilepsy with ragged red fibers 
Myoglobinuria recurrent 
N acetyltransferase deficiency 
N-acetyl-alpha-D-galactosaminidase deficiency type III 
N-acetylglutamate synthase deficiency 
Neonatal adrenoleukodystrophy 
Neonatal hemochromatosis 
Neonatal intrahepatic cholestasis caused by citrin deficiency 
Nephrogenic diabetes insipidus 
Neu Laxova syndrome 
Neuronal ceroid lipofuscinosis 10 
Neuronal ceroid lipofuscinosis 2 
Neuronal ceroid lipofuscinosis 3 
Neuronal ceroid lipofuscinosis 5 
Neuronal ceroid lipofuscinosis 6 
Neuronal ceroid lipofuscinosis 7 
Neuronal ceroid lipofuscinosis 9 
Neuropathy ataxia retinitis pigmentosa syndrome 
Neutral lipid storage disease with myopathy 
Niemann-Pick disease type A 
Niemann-Pick disease type B 
Niemann-Pick disease type C1 
Niemann-Pick disease type C2 
Northern epilepsy 
Not otherwise specified 3-MGA-uria type 
Occipital horn syndrome 
Ocular albinism type 1 
Oculocutaneous albinism type 1 
Oculocutaneous albinism type 1B 
Oculocutaneous albinism type 2 
Oculocutaneous albinism type 3 
OPA3 defect 
Optic atrophy 1 
Ornithine transcarbamylase deficiency 
Ornithine translocase deficiency syndrome 
Orotic aciduria type 1 
Papillon Lefevre syndrome 
Parkinson disease type 9 
Paroxysmal nocturnal hemoglobinuria 
Pearson syndrome 
Permanent neonatal diabetes mellitus 
Peroxisomal biogenesis disorders 
Peroxisome disorders - Not a rare disease 
Perrault syndrome 
Peters plus syndrome 
Phosphoglycerate kinase deficiency 
Phosphoglycerate mutase deficiency 
Phosphoribosylpyrophosphate synthetase deficiency 
Pontocerebellar hypoplasia type 6 
Porphyria cutanea tarda 
Primary carnitine deficiency 
Primary hyperoxaluria type 1 
Primary hyperoxaluria type 2 
Primary hyperoxaluria type 3 
Primary hypomagnesemia with secondary hypocalcemia 
Progressive external ophthalmoplegia, autosomal recessive 1 
Progressive familial intrahepatic cholestasis 1 
Progressive familial intrahepatic cholestasis type 2 
Progressive familial intrahepatic cholestasis type 3 
Prolidase deficiency 
Propionic acidemia 
Pseudocholinesterase deficiency 
Pseudoneonatal adrenoleukodystrophy 
Purine nucleoside phosphorylase deficiency 
Pyridoxal 5'-phosphate-dependent epilepsy 
Pyridoxine-dependent epilepsy 
Pyruvate carboxylase deficiency 
Pyruvate dehydrogenase complex deficiency 
Pyruvate dehydrogenase phosphatase deficiency 
Pyruvate kinase deficiency 
Refsum disease 
Refsum disease with increased pipecolic acidemia 
Refsum disease, infantile form 
Renal glycosuria 
Renal hypomagnesemia 2 
Renal hypomagnesemia-6 
Renal tubulopathy, diabetes mellitus, and cerebellar ataxia due to duplication of mitochondrial DNA 
Rhizomelic chondrodysplasia punctata type 3 - See Rhizomelic chondrodysplasia punctata 
Rotor syndrome 
Salla disease 
Scheie syndrome 
Schimke immunoosseous dysplasia 
Schindler disease type 1 
Schneckenbecken dysplasia 
SCOT deficiency 
Sea-Blue histiocytosis 
Sengers syndrome 
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 
Sepiapterin reductase deficiency 
Severe combined immunodeficiency 
Short-chain acyl-CoA dehydrogenase deficiency 
Sialidosis type I 
Sialidosis, type II 
Sialuria, French type 
Sideroblastic anemia and mitochondrial myopathy 
Sjogren-Larsson syndrome 
Smith-Lemli-Opitz syndrome 
Spastic paraplegia 7 
Spinocerebellar ataxia 28 
Spinocerebellar ataxia autosomal recessive 3 
Spondylocostal dysostosis 1 - See Spondylocostal dysostosis 
Spondylocostal dysostosis 2 - See Spondylocostal dysostosis 
Spondylocostal dysostosis 3 - See Spondylocostal dysostosis 
Spondylocostal dysostosis 4 - See Spondylocostal dysostosis 
Spondylocostal dysostosis 6 - See Spondylocostal dysostosis 
Spondylodysplastic Ehlers-Danlos syndrome 
Spondyloepimetaphyseal dysplasia joint laxity 
Spondylothoracic dysostosis 
Succinic semialdehyde dehydrogenase deficiency 
Tangier disease 
Tay-Sachs disease 
Thiamine responsive megaloblastic anemia syndrome 
Thiopurine S methyltranferase deficiency 
Tiglic acidemia 
Transaldolase deficiency 
Transcobalamin 1 deficiency 
Transient neonatal diabetes mellitus 
Trehalase deficiency 
Triosephosphate isomerase deficiency 
Tyrosine hydroxylase deficiency 
Tyrosine-oxidase temporary deficiency 
Tyrosinemia type 1 
Tyrosinemia type 2 
Tyrosinemia type 3 
Urea cycle disorders 
Variegate porphyria 
VLCAD deficiency 
Walker-Warburg syndrome 
Wilson disease 
Wolfram syndrome 
Wolman disease 
Wrinkly skin syndrome 
X-linked adrenoleukodystrophy 
X-linked Charcot-Marie-Tooth disease type 5 - See Charcot-Marie-Tooth disease 
X-linked creatine deficiency 
X-linked dominant chondrodysplasia punctata 2 
X-linked sideroblastic anemia 
Xanthinuria type 1 
Xanthinuria type 2 
Zellweger syndrome 

No hay comentarios:

Publicar un comentario