Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford

ABSTRACT: CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases. This program allows patients and researchers to connect as easily as possible to help advance treatments and cures for rare diseases. The CoRDS team works with patient advocacy groups, individuals and researchers to help in the advancement of research in over 7,000 rare diseases. The registry is free for patients to enroll and researchers to access. Visit sanfordresearch.org/CoRDS to enroll.

DISEASE(S): Cockayne Syndrome,Early-onset Progressive Neurodegeneration - Blindness - Ataxia - Spasticity,Narcolepsy Without Cataplexy,Behcet Syndrome,Muscle Spasticity,X-linked Spinocerebellar Ataxia Type 3,X-linked Spinocerebellar Ataxia Type 4,Pitt Hopkins Syndrome,Multiple System Atrophy, Cerebellar Type,Optic Atrophy,Gad Ataxia,Rectal Fistula,Spinocerebellar Ataxia With Oculomotor Anomaly,Ataxia With Dementia,Idiopathic Hypersomnia Without Long Sleep Time,De Lange Syndrome,Vitamin E Deficiency,Unclassified Autosomal Dominant Spinocerebellar Ataxia,Spinocerebellar Ataxia Type 16,Childhood-onset Hypophosphatasia,Narp Syndrome,Silver-russell Syndrome,Spinocerebellar Ataxia Type 14,Spinocerebellar Ataxia Type 13,Spinocerebellar Ataxia Type 12,Shy-drager Syndrome,Spinocerebellar Ataxia Type 11,Mollaret Meningitis,Esophageal Achalasia,Spinocerebellar Ataxia Type 10,Pick Disease Of The Brain,Arthritis,Spinocerebellar Ataxia Type 18,Spinocerebellar Ataxia Type 17,Hereditary Sensory And Autonomic Neuropathies,Recurrent Viral Meningitis,Amnesia,Lymphohistiocytosis, Hemophagocytic,Behcet's Disease,Odontohypophosphatasia,Sacral Agenesis Syndrome,Spinocerebellar Ataxia - Dysmorphism,Myhre Syndrome,Cataplexy,Hereditary Sensory And Autonomic Neuropathy Type Ie,Cerebellar Ataxia, Cayman Type,Tracheal Papillomatosis,Peripheral Nervous System Diseases,Hemolytic-uremic Syndrome,Mucolipidoses,Silver-russell Syndrome Due To Imprinting Defect Of 11p15,Kcnma1-channelopathy,Acquired Myasthenia Gravis,Childhood-onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia,Retinal Diseases,Spinocerebellar Ataxia Type 37,Spinocerebellar Ataxia Type 36,Spinocerebellar Ataxia Type 35,Spinocerebellar Ataxia Type 34,Polyneuropathies,Spinocerebellar Ataxia Type 32,Spinocerebellar Ataxia Type 31,Retinitis Pigmentosa,Autosomal Recessive Cerebellar Ataxia,Spinocerebellar Ataxia Type 30,Aniridia - Cerebellar Ataxia - Intellectual Disability,Cardiomyopathies,Primary Biliary Cirrhosis,Brachydactyly,Autosomal Recessive Cerebellar Ataxia-epilepsy-intellectual Disability Syndrome Due To Tud Deficiency,Spinocerebellar Ataxia Type 27,Hemolysis,Spinocerebellar Ataxia Type 26,Spinocerebellar Ataxia Type 25,Autosomal Dominant Spinocerebellar Ataxia Due To A Polyglutamine Anomaly,Spinocerebellar Ataxia Type 23,Spinocerebellar Ataxia Type 22,Benign Paroxysmal Tonic Upgaze Of Childhood With Ataxia,Spinocerebellar Ataxia Type 21,Spinocerebellar Ataxia Type 20,4p Deletion Syndrome, Non-wolf-hirschhorn Syndrome,Early-onset Spastic Ataxia-neuropathy Syndrome,Idiopathic Hypersomnia,Spinocerebellar Ataxia Type 29,Spinocerebellar Ataxia Type 28,Osteomyelitis,Autosomal Recessive Congenital Cerebellar Ataxia,Ataxia-telangiectasia,Isolated Aniridia,Isolated Klippel-feil Syndrome,Nicolaides Baraitser Syndrome,Idiopathic Gastroparesis,Dementia,Hypertrophy,Sleep Myoclonus,Leukoencephalopathies,Kabuki Syndrome,Adult Hypophosphatasia,Narcolepsy,Disorders Of Excessive Somnolence,Meningocele,Spinal Bulbar Muscular Atrophy,Multiple Endocrine Neoplasia Type Ii,Thyroid Antibody Ataxia,Spinocerebellar Ataxia Type 15/16,Cogan Syndrome,Hyperglycinemia, Nonketotic,Late-onset Ataxia With Dementia,Alagille Syndrome,Papilloma,Spastic Ataxia - Corneal Dystrophy,Rare Disorders,Kawasaki Disease,Leiomyosarcoma Of The Corpus Uteri,Crb1,Denys-drash Syndrome,Eosinophilic Esophagitis,Neoplasms,Congenital Abnormalities,Rare Inflammatory Bowel Disease,Warburg Micro Syndrome,Fanconi Syndrome,Toxic Exposure Ataxia,Ataxia-telangiectasia-like Disorder,Spinocerebellar Ataxias,Episodic Ataxia With Slurred Speech,Leigh Disease,Nystagmus, Pathologic,Telangiectasis,Leiomyosarcoma,Autosomal Recessive Spastic Ataxia,Fish Odor Syndrome,White Sutton Syndrome,Hemophagocytic Lymphohistiocytosis,Multiple Endocrine Neoplasia Type 2,Multiple Endocrine Neoplasia Type 1,Potocki-shaffer Syndrome,Autosomal Dominant Spinocerebellar Ataxia Due To Repeat Expansions That Do Not Encode Polyglutamine,Dilated Cardiomyopathy With Ataxia,Kennedy Disease,Aniridia - Ptosis - Intellectual Disability - Familial Obesity,Corneal Opacity,Gastroparesis,Cauda Equina Syndrome,Acquired Ataxia,Autosomal Recessive Metabolic Cerebellar Ataxia,Vitamin B12 Deficiency Ataxia,Hyperacusis (hyperacousis),Nerve Degeneration,Spasticity-ataxia-gait Anomalies Syndrome,Spinocerebellar Degenerations,Ataxia - Genetic Diagnosis - Unknown,Prenatal Benign Hypophosphatasia,Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency,Sacral Agenesis,Leiomyosarcoma Of The Cervix Uteri,Cerebellar Ataxia - Areflexia - Pes Cavus - Optic Atrophy - Sensorineural Hearing Loss,X-linked Intellectual Disability - Ataxia - Apraxia,Muscular Diseases,Liver Cirrhosis, Biliary,Aniridia - Renal Agenesis - Psychomotor Retardation,Maternally-inherited Leigh Syndrome,Brain Tumor Ataxia,Frontotemporal Dementia,Non Progressive Epilepsy And/or Ataxia With Myoclonus As A Major Feature,Brachydactyly - Nystagmus - Cerebellar Ataxia,Autosomal Dominant Cerebellar Ataxia, Deafness And Narcolepsy,Rare Gastrointestinal Disorders,Rare Retinal Disorder,Inclusion Body Myopathy With Early-onset Paget Disease And Frontotemporal Dementia (ibmpfd),Arthrogryposis,Glycogen Storage Disease,Episodic Ataxia Unknown Type,Leber Congenital Amaurosis,4p16.3 Microduplication Syndrome,Autosomal Recessive Cerebellar Ataxia - Psychomotor Retardation,Epilepsy,Refsum Disease,Gastroenteritis,Tango2,Hypnic Jerking,Spinocerebellar Ataxia - Unknown,Mt-aars Disorders,Ataxia With Vitamin E Deficiency,Nephropathic Cystinosis,Adult-onset Autosomal Recessive Cerebellar Ataxia,Jansen Type Metaphyseal Chondrodysplasia,Scleroderma,Autosomal Recessive Cerebellar Ataxia - Saccadic Intrusion,Wagr Syndrome,Laryngeal Papillomatosis,Lowe Syndrome,Klippel-feil Syndrome,Vitamin B 12 Deficiency,Hypertrophic Olivary Degeneration,Oculocerebrorenal Syndrome,Endocrine Gland Neoplasms,Atypical Hus,Aniridia - Absent Patella,Recurrent Respiratory Papillomatosis,Wiedemann-steiner Syndrome,Peters Anomaly,Sjogren's Syndrome,Early-onset Cerebellar Ataxia With Retained Tendon Reflexes,Spastic Ataxia,Post-stroke Ataxia,Aniridia,Silver-russell Syndrome Due To 11p15 Microduplication,Stickler Syndrome Type 2,Optic Atrophy, Autosomal Dominant,Stickler Syndrome Type 1,Myasthenia Gravis,Alcohol Related Ataxia,Deafness,Chronic Recurrent Multifocal Osteomyelitis,Rare Ataxia,Autosomal Recessive Ataxia, Beauce Type,Williams Syndrome,Hyperacusis,Spinocerebellar Ataxia With Epilepsy,Gliadin/gluten Ataxia,Dysarthria,Autosomal Recessive Cerebellar Ataxia-epilepsy-intellectual Disability Syndrome Due To Wwox Deficiency,Bulbo-spinal Atrophy, X-linked,Hearing Loss, Sensorineural,Autosomal Recessive Spastic Ataxia Of Charlevoix-saguenay,Crmo,Caudal Regression,Connective Tissue Diseases,Autosomal Dominant Spinocerebellar Ataxia Due To A Channelopathy,Lyme Disease,Apraxias,Fragile X-associated Tremor/ataxia Syndrome,Autosomal Recessive Cerebellar Ataxia With Late-onset Spasticity,Cataract,Amnesia, Transient Global,Myoclonus,Inflammatory Bowel Diseases,Spastic Ataxia With Congenital Miosis,Axenfeld-rieger Syndrome,Epilepsy And/or Ataxia With Myoclonus As Major Feature,Post Vaccination Ataxia,Ataxia-telangiectasia Variant,Infantile Hypophosphatasia,Cataract - Ataxia - Deafness,Post-head Injury Ataxia,Aniridia-intellectual Disability Syndrome,Non-hereditary Degenerative Ataxia,Infection Or Post Infection Ataxia,Polyneuropathy - Hearing Loss - Ataxia - Retinitis Pigmentosa - Cataract,Eiee31,Spinocerebellar Ataxia Type 1 With Axonal Neuropathy,Multiple System Atrophy,Muscle Weakness,Retinitis,Rare Hereditary Ataxia,Uniparental Disomy,Sporadic Adult-onset Ataxia Of Unknown Etiology,Transient Global Amnesia,Familial Paroxysmal Ataxia,Wolf-hirschhorn Syndrome,X-linked Cerebellar Ataxia,Addison Disease,Autoimmune/inflammatory Syndrome Induced By Adjuvants (asia),Myasthenia Gravis, Neonatal,Abnormalities, Multiple,Digestive System Diseases,Myoclonus - Cerebellar Ataxia - Deafness,Hypophosphatasia,Gastrointestinal Diseases,X-linked Progressive Cerebellar Ataxia,Autosomal Dominant Optic Atrophy,Friedreich Ataxia,Hearing Loss,Progressive Epilepsy And/or Ataxia With Myoclonus As A Major Feature,Hereditary Episodic Ataxia,1p36 Deletion Syndrome,Emanuel Syndrome,Kleine-levin Syndrome,Autosomal Recessive Congenital Cerebellar Ataxia Due To Grid2 Deficiency,Narcolepsy-cataplexy,Spinocerebellar Ataxia Type 1,Autosomal Recessive Cerebellar Ataxia-epilepsy-intellectual Disability Syndrome Due To Kiaa0226 Deficiency,Autosomal Recessive Cerebellar Ataxia Due To A Dna Repair Defect,Autosomal Recessive Cerebellar Ataxia-epilepsy-intellectual Disability Syndrome,Lymphoma, Large-cell, Anaplastic,Muscular Atrophy - Ataxia - Retinitis Pigmentosa - Diabetes Mellitus,Craniocerebral Trauma,Craniofacial Abnormalities,Spinocerebellar Ataxia With Axonal Neuropathy Type 2,Idiopathic Hypersomnia With Long Sleep Time,Disorders Of Unknown Prevalence,Perinatal Lethal Hypophosphatasia,Breast Implant-associated Anaplastic Large Cell Lymphoma,Autosomal Recessive Ataxia Due To Ubiquinone Deficiency,Leukodystrophy,Spinocerebellar Ataxia Type 6,Autosomal Recessive Syndromic Cerebellar Ataxia,Spinocerebellar Ataxia Type 7,Spinocerebellar Ataxia Type 8,Spinocerebellar Ataxia Type 2,Spinocerebellar Ataxia Type 3,Cerebellar Ataxia With Peripheral Neuropathy,Spinocerebellar Ataxia Type 4,Spinocerebellar Ataxia Type 5,Cerebellar Ataxia - Ectodermal Dysplasia,Machado-joseph Disease Type 3,Scheuermann Disease,Autosomal Dominant Spastic Ataxia,Retinal Detachment,Cerebellar Ataxia - Hypogonadism,Marinesco Sjogren Syndrome(marinesco-sjogren Syndrome),Malan Syndrome,Multiple Endocrine Neoplasia, Type Iv,Machado-joseph Disease Type 1,Machado-joseph Disease Type 2,Ataxia Telangiectasia,Non-ketotic Hyperglycinemia,Fistula,Leiomyosarcoma Of Small Intestine,Autosomal Recessive Ataxia Due To Pex10 Deficiency,Zmynd11,Intestinal Pseudo-obstruction,Autosomal Recessive Degenerative And Progressive Cerebellar Ataxia,Autosomal Recessive Spastic Ataxia - Optic Atrophy - Dysarthria,Ataxia,Cerebellar Ataxia,Juvenile Myasthenia Gravis,Autosomal Recessive Stickler Syndrome,Eye Diseases, Hereditary,Exposure To Medications Ataxia,Congenital Sucrase-isomaltase Deficiency,Autosomal Dominant Spinocerebellar Ataxia Due To A Point Mutation,Hypogonadism,Channelopathies,Olivopontocerebellar Atrophies,Autosomal Dominant Cerebellar Ataxia Type 4,Autosomal Dominant Cerebellar Ataxia Type 3,Hypersomnolence Disorder,Autosomal Dominant Cerebellar Ataxia Type 2,Autosomal Dominant Cerebellar Ataxia,Meningitis, Viral,Olivopontocerebellar Atrophy - Deafness,Spinocerebellar Ataxia Type 19/22,Cardiomyopathy, Dilated,Atrophy,Vcp Disease,Anal Fistula,Beckwith-wiedemann Syndrome,Autosomal Dominant Spastic Ataxia Type 1,Recessive Mitochondrial Ataxia Syndrome,Silver-russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11,Mucolipidosis Type 4,Syndromic Aniridia,Frasier Syndrome,Autosomal Recessive Cerebellar Ataxia - Blindness - Deafness,Mucocutaneous Lymph Node Syndrome,Ataxia - Other,Blindness,Atypical Hemolytic Uremic Syndrome,Alstrom Syndrome,Cornelia De Lange Syndrome,Corneal Dystrophies, Hereditary,Stickler Syndrome,Bohring-opitz Syndrome,Mitochondrial Diseases,Multiple Endocrine Neoplasia,Cystinosis,Halitosis,Achalasia-addisonian Syndrome,Eosinophilic Gastroenteritis,Achalasia Icrocephaly Syndrome,X-linked Non Progressive Cerebellar Ataxia,Smc1a Truncated Mutations (causing Loss Of Gene Function),Episodic Ataxia Type 4,Episodic Ataxia Type 5,Episodic Ataxia Type 6,Dnm1,Episodic Ataxia Type 7,Episodic Ataxia Type 1,Episodic Ataxia Type 3,Short Bowel Syndrome,Multiple Endocrine Neoplasia Type 2a,Multiple Endocrine Neoplasia Type 2b,Ectodermal Dysplasia,Early-onset Ataxia With Dementia,Undiagnosed Disorders,Muscular Atrophy,Autosomal Dominant Cerebellar Ataxia Type 1,Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity,Peters Anomaly - Cataract,Leigh Syndrome,Multiple Endocrine Neoplasia (men) Syndrome,Mitochondrial Aminoacyl-trna Synthetases,Eye Abnormalities,Osteochondrodysplasias,Posterior Column Ataxia - Retinitis Pigmentosa,Autosomal Recessive Congenital Cerebellar Ataxia Due To Mglur1 Deficiency,Meningitis,Intellectual Disability,Machado-joseph Disease,Autosomal Recessive Spastic Ataxia With Leukoencephalopathy,Achalasia Cardia,Aphasia, Primary Progressive,Rare Diseases,Transient Neonatal Myasthenia Gravis,Multiple Endocrine Neoplasia, Type 3,Ataxia - Oculomotor Apraxia Type 1,Autosomal Recessive Cerebellar Ataxia-pyramidal Signs-nystagmus-oculomotor Apraxia Syndrome,Juvenile Nephropathic Cystinosis,Multiple System Atrophy, Parkinsonian Type,Hirschsprung Disease

PROVIDER: 2140190 | ecrin-mdr-crc |

REPOSITORIES: ECRIN MDR