domingo, 27 de enero de 2019

Nervous System Diseases | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program

Nervous System Diseases | 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

Nervous System Diseases

Cohen syndrome 
Cold-induced sweating syndrome 
Complex regional pain syndrome 
Congenital central hypoventilation syndrome 
Congenital cytomegalovirus 
Congenital fiber type disproportion 
Congenital fibrosis of extraocular muscles 
Congenital generalized lipodystrophy type 4 
Congenital hypomyelination neuropathy 
Congenital insensitivity to pain 
Congenital insensitivity to pain with anhidrosis 
Congenital intrauterine infection-like syndrome 
Congenital laryngeal palsy 
Congenital mirror movement disorder 
Congenital muscular dystrophy due to LMNA mutation - See Congenital muscular dystrophy 
Congenital muscular dystrophy type 1A 
Congenital muscular dystrophy with integrin alpha-7 deficiency - See Congenital muscular dystrophy 
Congenital muscular dystrophy-dystroglycanopathy with or without intellectual disability (type B) 
Congenital myasthenic syndrome with episodic apnea 
Congenital rubella 
Congenital toxoplasmosis - Not a rare disease 
Continuous spike-wave during slow sleep syndrome 
Convulsions, benign familial infantile, 1 
Corneal hypesthesia, familial 
Cornelia de Lange syndrome 
Corpus callosum agenesis double urinary collecting 
Cortical blindness-intellectual disability-polydactyly syndrome 
Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation 
Corticobasal degeneration 
Costello syndrome 
Crane-Heise syndrome 
Craniofrontonasal dysplasia 
Craniotelencephalic dysplasia 
CREST syndrome 
Creutzfeldt-Jakob disease 
Crome syndrome 
Curry Jones syndrome 
Cylindrical spirals myopathy 
Cyprus facial neuromusculoskeletal syndrome 
Cytomegalic inclusion disease 
D-2-hydroxyglutaric aciduria 
Dandy-Walker cyst with Renal-Hepatic-Pancreatic dysplasia 
Dandy-Walker like malformation with atrioventricular septal defect 
Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures 
Dandy-Walker malformation with postaxial polydactyly 
Dandy-Walker malformation with sagittal craniosynostosis and hydrocephalus 
Danon disease 
DEAF1-associated disorders 
Deafness, dystonia, and cerebral hypomyelination 
Dementia familial British 
Dentatorubral-pallidoluysian atrophy 
Developmental dysphasia familial 
Dihydrolipoamide dehydrogenase deficiency 
Dihydropteridine reductase deficiency 
Distal myopathy with vocal cord weakness 
DOOR syndrome 
Dopa-responsive dystonia 
Dopamine beta hydroxylase deficiency 
Dopamine transporter deficiency syndrome 
Dravet syndrome 
Duane syndrome 
Duane syndrome type 1 
Duane syndrome type 2 
Duane syndrome type 3 
Dubowitz syndrome 
Duchenne muscular dystrophy 
Dykes Markes Harper syndrome 
Dysautonomia like disorder 
Dysequilibrium syndrome 
Dyskeratosis congenita 
Dyskeratosis congenita autosomal dominant 
Dyskeratosis congenita autosomal recessive 
Dyskeratosis congenita X-linked 
Dyssynergia cerebellaris myoclonica 
Dystonia 2, torsion, autosomal recessive 
Early Infantile Epileptic Encephalopathy 
Early infantile epileptic encephalopathy 25 
Early-onset anterior polar cataract 
Early-onset parkinsonism-intellectual disability syndrome 
Early-onset, autosomal dominant Alzheimer disease 
Eastern equine encephalitis 
Emery-Dreifuss muscular dystrophy, X-linked 
Empty sella syndrome 
Encephalitis lethargica 
Encephalocraniocutaneous lipomatosis 
Encephalopathy due to prosaposin deficiency - See Sphingolipidosis 
Eosinophilic fasciitis 
Eosinophilic granulomatosis with polyangiitis 
Epidermolysa bullosa simplex with muscular dystrophy 
Epilepsy juvenile absence 
Epilepsy occipital calcifications 
Epilepsy progressive myoclonic type 3 
Epilepsy with myoclonic-atonic seizures 
Epiphyseal dysplasia hearing loss dysmorphism 
Episodic ataxia 
Episodic ataxia with nystagmus 
Essential tremor - Not a rare disease 
Fabry disease 
Facial onset sensory and motor neuronopathy 
Facioscapulohumeral muscular dystrophy 
Fallot complex with severe mental and growth retardation 
Familial amyloidosis, Finnish type 
Familial bilateral striatal necrosis 
Familial caudal dysgenesis 
Familial congenital palsy of trochlear nerve 
Familial dysautonomia 
Familial encephalopathy with neuroserpin inclusion bodies 
Familial exudative vitreoretinopathy 
Familial focal epilepsy with variable foci 
Familial hemiplegic migraine 
Familial hemiplegic migraine type 1 
Familial hemiplegic migraine type 2 
Familial hemiplegic migraine type 3 
Familial porencephaly 
Familial transthyretin amyloidosis 
Farber's disease 
Fatal familial insomnia 
Fatal infantile encephalomyopathy 
Fatty acid hydroxylase-associated neurodegeneration 
FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome 
Febrile infection-related epilepsy syndrome 
Feigenbaum Bergeron Richardson syndrome 
Filippi syndrome 
Fine-Lubinsky syndrome 
Fingerprint body myopathy 
Fitzsimmons Walson Mellor syndrome 
Fitzsimmons-Guilbert syndrome 
Floating-Harbor syndrome 
Flynn Aird syndrome 
Focal dermal hypoplasia 
Focal segmental glomerulosclerosis 
Fountain syndrome 
FOXG1 syndrome 
Fragile X syndrome 
Fragile XE syndrome 
Friedreich ataxia 
Frontometaphyseal dysplasia 
Frontotemporal dementia 
Fryns syndrome 
Fukuyama type muscular dystrophy 
Fumarase deficiency 
Galloway-Mowat syndrome 
Gamma aminobutyric acid transaminase deficiency 
GAPO syndrome 
Gaucher disease type 1 
Gaucher disease type 2 
Gaucher disease type 3 
Gemignani syndrome 
Genitopatellar syndrome 
Genoa syndrome 
Gerstmann syndrome 
Gerstmann-Straussler-Scheinker disease 
Giant axonal neuropathy 
Gillespie syndrome 
Gliomatosis cerebri 
Glucose transporter type 1 deficiency syndrome 
Glutamine deficiency, congenital 
Glutaric acidemia type I 
Glutaric acidemia type II 
Glutaric acidemia type III 
Glycogen storage disease type 13 
Glycogen storage disease type 2 
Glycogen storage disease type 3 
Glycogen storage disease type 4 
Glycogen storage disease type 5 
Glycogen storage disease type 7 
GM1 gangliosidosis type 1 
GM1 gangliosidosis type 2 
GM1 gangliosidosis type 3 
GM3 synthase deficiency 
GMS syndrome 
Goldberg-Shprintzen megacolon syndrome 
Gomez Lopez Hernandez syndrome 
GOSR2-related progressive myoclonus ataxia 
Graham-Cox syndrome 
Granulomatosis with polyangiitis 
Griscelli syndrome type 1 
Grubben de Cock Borghgraef syndrome 
GTP cyclohydrolase I deficiency 
Guanidinoacetate methyltransferase deficiency 
Guillain-Barre syndrome 
Gurrieri syndrome 
Gyrate atrophy of choroid and retina 
Hair defect-photosensitivity-intellectual disability syndrome 
Hall-Riggs syndrome 
Hallermann-Streiff syndrome 
Hamanishi Ueba Tsuji syndrome 
Hansen's disease 
Harding ataxia 
Harlequin syndrome 
Harrod Doman Keele syndrome 
Hartnup disease 
Hashimoto encephalopathy 
Hemicrania continua 
Hemiplegic migraine 
Hemophagocytic lymphohistiocytosis 
Hennekam syndrome 
Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome 
Hereditary coproporphyria 
Hereditary diffuse leukoencephalopathy with spheroids 
Hereditary endotheliopathy, retinopathy, nephropathy, and stroke 
Hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis 
Hereditary geniospasm 
Hereditary hemorrhagic telangiectasia 
Hereditary hemorrhagic telangiectasia type 2 
Hereditary hemorrhagic telangiectasia type 3 
Hereditary hemorrhagic telangiectasia type 4 
Hereditary hyperekplexia 
Hereditary motor and sensory neuropathy type 5 
Hereditary neuropathy with liability to pressure palsies 
Hereditary proximal myopathy with early respiratory failure 
Hereditary sensorimotor neuropathy with hyperelastic skin 
Hereditary sensory and autonomic neuropathy type 1E 
Hereditary sensory and autonomic neuropathy type 2 
Hereditary sensory and autonomic neuropathy type 7 
Hereditary sensory and autonomic neuropathy type V 
Hereditary sensory neuropathy type 1 
Hereditary spastic paraplegia 
Hereditary vascular retinopathy 
Hernández-Aguirre Negrete syndrome 
Herpes simplex encephalitis 
Herpes zoster oticus 
HIBCH deficiency 
Homocystinuria due to CBS deficiency 
Homocystinuria due to MTHFR deficiency 
Horizontal gaze palsy with progressive scoliosis 
Hoyeraal Hreidarsson syndrome 
HTLV-1 associated myelopathy/tropical spastic paraparesis 
Huntington disease 
Hurler syndrome 
Hurler–Scheie syndrome 
Hydrocephalus due to congenital stenosis of aqueduct of sylvius 
Hydrocephalus-cleft palate-joint contractures syndrome 
Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency 
Hyperkalemic periodic paralysis 
Hypermethioninemia due to S-adenosylhomocysteine hydrolase deficiency 
Hyperphenylalaninemia due to dehydratase deficiency 
Hyperprolinemia type 2 
Hypertrophic neuropathy of Dejerine-Sottas 
Hypocalcemia, autosomal dominant 
Hypokalemic periodic paralysis 
Hypomelanosis of Ito 
Hypomyelination and congenital cataract 
Hypomyelination with atrophy of basal ganglia and cerebellum 
Hypoparathyroidism-intellectual disability-dysmorphism syndrome 
Hypospadias-intellectual disability, Goldblatt type syndrome 
Hypothalamic hamartomas 
Ichthyosis alopecia eclabion ectropion mental retardation 
Idiopathic intracranial hypertension 
Idiopathic spinal cord herniation 
Inclusion body myopathy 2 
Inclusion body myopathy 3 
Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 
Inclusion body myositis 
Incontinentia pigmenti 
Infantile axonal neuropathy 
Infantile cerebellar retinal degeneration 
Infantile choroidocerebral calcification syndrome 
Infantile convulsions and paroxysmal choreoathetosis, familial 
Infantile myofibromatosis 
Infantile neuroaxonal dystrophy 
Infantile onset spinocerebellar ataxia 
Infantile spasms broad thumbs 
Infantile-onset ascending hereditary spastic paralysis 
Infection-induced acute encephalopathy 3 
Intellectual deficit - short stature - hypertelorism 
Intellectual deficit Buenos-Aires type 
Intellectual disability - athetosis - microphthalmia 
Intellectual disability - hypoplastic corpus callosum - preauricular tag 
Intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity 
Intellectual disability-developmental delay-contractures syndrome 
Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome 
Intellectual disability-severe speech delay-mild dysmorphism syndrome 
Intellectual disability-spasticity-ectrodactyly syndrome 
Intermediate congenital nemaline myopathy 
Internal carotid agenesis 
Intraneural perineurioma 
IRVAN syndrome 
Isaacs' syndrome 
Isodicentric chromosome 15 syndrome 
Johanson-Blizzard syndrome 
Johnson neuroectodermal syndrome 
Joubert syndrome 
Joubert syndrome with oculorenal anomalies 
Juberg Marsidi syndrome 
Juvenile amyotrophic lateral sclerosis 
Juvenile dermatomyositis 
Juvenile Huntington disease 
Juvenile polymyositis 
Juvenile primary lateral sclerosis 
Kabuki syndrome 
Kanzaki disease 
Kapur Toriello syndrome 
Kaufman oculocerebrofacial syndrome 
KBG syndrome 
KCNQ2-Related Disorders 
Kearns-Sayre syndrome 
Kennedy disease 
Keratosis follicularis dwarfism and cerebral atrophy 
Keutel syndrome 
King Denborough syndrome 
Kleine Levin syndrome 
Klumpke paralysis 
Kosztolanyi syndrome 
Kozlowski-Krajewska syndrome 
Kuzniecky Andermann syndrome 
L-2-hydroxyglutaric aciduria 
L-arginine:glycine amidinotransferase deficiency 
La Crosse encephalitis 
Laband syndrome 
Lafora disease 
Laing distal myopathy 
Lambert Eaton myasthenic syndrome 
Landau-Kleffner syndrome 
Late-onset distal myopathy, Markesbery-Griggs type 
Lateral meningocele syndrome 
Laurence-Moon syndrome 
LCHAD deficiency 
Leber hereditary optic neuropathy with dystonia 
Leigh syndrome, French Canadian type 
Leisti Hollister Rimoin syndrome 
Lennox-Gastaut syndrome 
Lenz Majewski hyperostotic dwarfism 
Lenz microphthalmia syndrome 
Lesch Nyhan syndrome 
Leukodystrophy, dysmyelinating, and spastic paraparesis with or without dystonia 
Leukoencephalopathy - dystonia - motor neuropathy 
Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation 
Leukoencephalopathy with thalamus and brainstem involvement and high lactate 
Levic Stefanovic Nikolic syndrome 
Lewis-Sumner syndrome 
Lhermitte-Duclos disease 
Li-Fraumeni syndrome 
Limb-girdle muscular dystrophy type 1A 
Limb-girdle muscular dystrophy type 1B 
Limb-girdle muscular dystrophy type 1C - See Limb-girdle muscular dystrophy 
Limb-girdle muscular dystrophy type 1D - See Limb-girdle muscular dystrophy 
Limb-girdle muscular dystrophy type 1E - See Limb-girdle muscular dystrophy 
Limb-girdle muscular dystrophy type 1F - See Limb-girdle muscular dystrophy 
Limb-girdle muscular dystrophy type 1G - See Limb-girdle muscular dystrophy 
Limb-girdle muscular dystrophy type 1H - See Limb-girdle muscular dystrophy 
Limb-girdle muscular dystrophy type 2A 
Limb-girdle muscular dystrophy type 2B 
Limb-girdle muscular dystrophy type 2E 
Limb-girdle muscular dystrophy type 2F 
Limb-girdle muscular dystrophy type 2H 
Limb-girdle muscular dystrophy type 2I 
Limb-girdle muscular dystrophy type 2J - See Limb-girdle muscular dystrophy 
Limb-girdle muscular dystrophy type 2K - See Limb-girdle muscular dystrophy 
Limb-girdle muscular dystrophy type 2L - 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 2P - See Limb-girdle muscular dystrophy type 1A 
Limb-girdle muscular dystrophy type 2Q - See Limb-girdle muscular dystrophy 
Limb-girdle muscular dystrophy type 2S - See Limb-girdle muscular dystrophy 
Limb-girdle muscular dystrophy type 2T - See Limb-girdle muscular dystrophy 
Limb-girdle muscular dystrophy, type 2C 
Limb-girdle muscular dystrophy, type 2D 
Limb-girdle muscular dystrophy, type 2G 
Limbic encephalitis with LGI1 antibodies 
Limited cutaneous systemic sclerosis 
Lipoic acid synthetase deficiency 
Lissencephaly 1 
Lissencephaly 2 
Lissencephaly X-linked 
Localized hypertrophic neuropathy 
Locked-in syndrome 
Logopenic progressive aphasia 
Lowe oculocerebrorenal syndrome 
Lowry Maclean syndrome 
Lujan syndrome 
Lyme disease - Not a rare disease 
Mac Dermot Winter syndrome 
Macrocephaly-short stature-paraplegia syndrome 
Macrothrombocytopenia progressive deafness 
Mal de debarquement syndrome 
Male pseudohermaphroditism intellectual disability syndrome, Verloes type 
Malignant hyperthermia 
Malignant hyperthermia arthrogryposis torticollis 
Malignant hyperthermia susceptibility type 1 
Malignant hyperthermia susceptibility type 2 
Malignant hyperthermia susceptibility type 3 
Malignant hyperthermia susceptibility type 4 
Malignant hyperthermia susceptibility type 5 
Malignant hyperthermia susceptibility type 6 
Malignant migrating partial seizures of infancy 

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