CoRDS Metrics

The CoRDs program continues to grow and expand. Below are some updates on the progress of CoRDS over the past few years, including enrollment numbers, growth charts, represented diseases, and participation from around the world.

Enrollment Numbers

Metrics as of 06/01/2017
3,768 Fully enrolled* participants
115 Eligible** Participants
3,883 Total
598+ Diseases***
50 US States + DC
52 Countries***

*Informed Consent and Questionnaire Permission & Data-Sharing questions completed
**Informed Consent and Questionnaire pending completion
***From Enrolled participants

Represented Diseases


10q22.3q23.3 microduplication syndrome 12q24 duplication 15q13.3 microdeletion syndrome
16p13.11 microdeletion syndrome 17p11.2 microduplication syndrome 19p13.12 microdeletion syndrome
19p13.13 microdeletion syndrome 1p36 deletion syndrome 1q21.1 microduplication syndrome
1q44 microdeletion syndrome 22q11.2 deletion syndrome 22q11.2 microduplication syndrome
2q23.1 microdeletion syndrome 2q33.1 microdeletion syndrome 2q37 microdeletion syndrome
3-methylglutaconic aciduria 3q26 microduplication syndrome 4-hydroxybutyric aciduria
4p Deletion Syndrome 5q14.3 microdeletion syndrome Non-Wolf-Hirschhorn Syndrome
8p23.1 microduplication syndrome Aceruloplasminemia Acquired ataxia
Acquired central diabetes insipidus Acquired myasthenia gravis Acquired neutropenia
Acquired peripheral neuropathy Acromegaly Acromesomelic dysplasia
Acute adrenal insufficiency Acute biphenotypic leukemia Acute intermittent porphyria
Addison disease Adiposis dolorosa ADNP-related multiple congenital anomalies-intellectual disability-autism spectrum disorder
Adult hepatocellular carcinoma Adult hypophosphatasia Adult-onset autosomal recessive cerebellar ataxia
AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome Aicardi syndrome Alcohol related ataxia
Alkaptonuria Allan-Herndon-Dudley syndrome Alpha-1-antitrypsin deficiency
Amelogenesis imperfecta Amyloidosis Amyotrophic lateral sclerosis
Aneurysm - osteoarthritis syndrome Aniridia Ankylosing spondylitis
Anomaly of chromosome 7 Anomaly of chromosome 16 Antiphospholipid syndrome
Aorta coarctation Aplasia of lacrimal and salivary glands Arachnoiditis
Arnold-Chiari malformation type I Arterial duct anomaly Arterial thoracic outlet syndrome
Arteriovenous malformation Atrial septal defect, coronary sinus type Ataxia - Genetic diagnosis - Unknown
Ataxia - oculomotor apraxia type 1 Ataxia - Other Ataxia - pancytopenia
Ataxia with vitamin E deficiency Ataxia-telangiectasia Atrial tachyarrhythmia with short PR interval
Atypical autism Atypical hemolytic-uremic syndrome Autoimmune thrombocytopenia
Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation Autosomal dominant cerebellar ataxia Autosomal dominant cerebellar ataxia type 2
Autosomal dominant cerebellar ataxia type 3 Autosomal dominant cerebellar ataxia, deafness and narcolepsy Autosomal dominant cervical dystonia
Autosomal dominant complex spastic paraplegia Autosomal dominant hyper-IgE syndrome Autosomal dominant non-syndromic sensorineural deafness type DFNA
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis Autosomal dominant spastic ataxia Autosomal dominant spastic paraplegia type 31
Autosomal dominant spastic paraplegia type 4 Autosomal dominant spinocerebellar ataxia due to a point mutation Autosomal dominant spinocerebellar ataxia due to a polyglutamine anomaly
Autosomal dominant spinocerebellar ataxia due to repeat expansions that do not encode polyglutamine Autosomal recessive ataxia due to ubiquinone deficiency Autosomal recessive ataxia, Beauce type
Autosomal recessive cerebellar ataxia Autosomal recessive complex spastic paraplegia Autosomal recessive congenital ichthyosis
Autosomal recessive degenerative and progressive cerebellar ataxia Autosomal recessive spastic paraplegia type 7 Autosomal recessive systemic lupus erythematosus
Axenfeld-Rieger syndrome Bannayan-Riley-Ruvalcaba syndrome Baroreflex Failure
Barrett esophagus Beckwith-Wiedemann syndrome Behcet disease
Benign essential blepharospasm Bilateral perisylvian polymicrogyria Biliary atresia
Bohring-Opitz syndrome Brachydactyly Brain tumor ataxia
Brooke-Spiegler syndrome Bruck syndrome Brugada syndrome
Burning mouth syndrome CACH syndrome Capillary malformation
Capillary malformation - arteriovenous malformation Cerebellar ataxia - hypogonadism Cardiofaciocutaneous syndrome
Celiac disease, epilepsy and cerebral calcification syndrome Cerebellar ataxia with peripheral neuropathy Cerebral cavernous malformations
Channelopathy due to a voltage-gated potassium channel defect Channelopathy due to a voltage-gated sodium channel defect Charcot-Marie-Tooth disease
Childhood apraxia of speech Childhood-onset hypophosphatasia Chromosomal anomaly
Chronic autoimmune hepatitis Chronic inflammatory demyelinating polyneuropathy Chronic muscular fatigue and/or chronic muscle pain
Chronic primary adrenal insufficiency Classical homocystinuria Cleft lip/palate - intestinal malrotation - cardiopathy
Cleft palate CLN1 disease CLN2 disease
CLN6 disease CLN7 disease Coffin-Lowry syndrome
Coffin-Siris syndrome Cogan syndrome Combined pituitary hormone deficiencies, genetic forms
Common variable immunodeficiency Complete atrioventricular canal - Fallot tetralogy Complex hereditary spastic paraplegia
Complex regional pain syndrome Complex regional pain syndrome type 1 Complex regional pain syndrome type 2
Congenital adrenal hyperplasia Congenital communicating hydrocephalus Congenital contractural arachnodactyly
Congenital diaphragmatic hernia Congenital disorder of glycosylation Congenital dyserythropoietic anemia
Congenital dyserythropoietic anemia type IV Congenital great vessels anomaly Congenital glaucoma
Congenital heart malformation Congenital hydrocephalus Congenital hypothyroidism
Congenital laryngomalacia Congenital liver hemangioma Congenital myasthenic syndrome
Congenital primary lymphedema Congenital pseudoarthrosis of the fibula Congenital pulmonary valve stenosis
Congenital tracheomalacia Congenital vitamin K-dependent coagulation factors deficiency Corneal-cerebellar syndrome
Cornelia de Lange syndrome Coronary artery disease - hyperlipidemia - hypertension - diabetes - osteoporosis Cortical dysplasia - focal epilepsy syndrome
Corticobasal degeneration Cowden syndrome Craniosynostosis
Crohn disease Cryoglobulinemic vasculitis Cutaneous leukocytoclastic angiitis
Cutis marmorata telangiectatica congenita Dementia pugilistica Dementia with Lewy body
Denys-Drash syndrome Diffuse Idiopathic Skeletal Hyperostosis (DISH) Discrete fibromuscular subaortic stenosis
Disease predisposing to age-related macular degeneration Disorder of other vitamins and cofactors metabolism and transport Distal myopathy, Nonaka type
Dravet syndrome Duane retraction syndrome Duchenne muscular dystrophy
Dural sinus malformation Dyskeratosis congenita Dyspraxia
Early infantile epileptic encephalopathy Early-onset cerebellar ataxia with retained tendon reflexes EAST syndrome
Ehlers-Danlos syndrome Ehlers-Danlos syndrome due to tenascin-X deficiency Ehlers-Danlos syndrome type 1
Ehlers-Danlos syndrome, classic type Ehlers-Danlos syndrome, hypermobility type Ehlers-Danlos syndrome, kyphoscoliotic and deafness type
Ehlers-Danlos syndrome, vascular-like type Emanuel syndrome Encephalopathy due to GLUT1 deficiency
Eosinophilic esophagitis Eosinophilic fasciitis Eosinophilic granulomatosis with polyangiitis/td>
Epidermal nevus syndrome Epileptic encephalopathy with global cerebral demyelination Episodic ataxia type 1
Episodic ataxia type 3 Episodic ataxia type 4 Episodic ataxia type 5
Episodic Ataxia Unknown type Exposure to Medications Ataxia Facioscapulohumeral dystrophy
Familial amyloid polyneuropathy Familial atypical multiple mole melanoma syndrome Familial dysautonomia
Familial hypobetalipoproteinemia Familial isolated congenital asplenia Familial long QT syndrome
Familial medullary thyroid carcinoma Familial or sporadic hemiplegic migraine Familial paroxysmal ataxia
Familial restrictive cardiomyopathy Familial Scheuermann disease Familial symmetric lipomatosis
Familial syringomyelia FBX011 alteration Feingold syndrome
Fibromuscular dysplasia of arteries Fibromyalgia Fragile X syndrome
Fragile X syndrome Friedreich ataxia Functional Neurological Disorder (FND)
GAD ataxia Ganglioneuroblastoma Gastrointestinal stromal tumor
Generalized pustular psoriasis Genetic neuromuscular disease Genetic syndromic Pierre Robin syndrome
Gliadin/Gluten ataxia Glucose transport disorder Goldenhar syndrome
Granuloma Annulare Growth Hormone Deficiency Hashimoto hypothyroidism
Hashimoto thyroiditis Hemochromatosis type 1 Hemimegalencephaly
Hemoglobin E - beta-thalassemia Hereditary cerebral cavernous malformation Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia
Hereditary episodic ataxia Hereditary hemorrhagic telangiectasia Hereditary leiomyomatosis and renal cell cancer
Hereditary neuropathy with liability to pressure palsies Hereditary spastic paraplegia Hereditary spherocytosis
Hereditary vascular retinopathy Hirschsprung disease Huntington disease
Hyperacusis (Hyperacousis) Hypernychthemeral syndrome Hypersomnolence Disorder
Hypertrophic cardiomyopathy Hypnic headache Hypobetalipoproteinemia
Hypocomplementemic urticarial vasculitis Hypomyelinating leukodystrophy with or without oligondontia and/or hypogonadism Hypophosphatasia
Hypoplasminogenemia Hypoplastic left heart syndrome Hypotonia - failure to thrive - microcephaly
Ichthyosis Ichthyosis - hepatosplenomegaly - cerebellar degeneration Idiopathic acute transverse myelitis
Idiopathic aplastic anemia Idiopathic hypersomnia Idiopathic hypersomnia with long sleep time
Idiopathic hypersomnia without long sleep time Idiopathic infantile nystagmus Idiopathic intracranial hypertension
Idiopathic syringomyelia Immune thrombocytopenic purpura Immunoglobulin heavy chain deficiency
Infantile cerebellar-retinal degeneration Infantile hypophosphatasia Infection or post infection ataxia
Intellectual disability - alacrima - achalasia Intellectual disability - short stature - h Isolated aniridia
Isolated Klippel-Feil syndrome Isolated Pierre Robin syndrome Isolated spina bifida
Jacobsen syndrome Joubert syndrome Juvenile idiopathic arthritis
Juvenile myasthenia gravis Juvenile myoclonic epilepsy Juvenile neuronal ceroid lipofuscinosis
Juvenile polyposis syndrome Kabuki syndrome Kawasaki disease
Keutel syndrome Kleefstra syndrome Kleine-Levin syndrome
Langerhans cell histiocytosis Late infantile neuronal ceroid lipofuscinosis Late-onset primary lymphedema
Leigh syndrome Leiomyosarcoma Leiomyosarcoma of small intestine
Leiomyosarcoma of the cervix uteri Leiomyosarcoma of the corpus uteri Leukoencephalopathy with mild cerebellar ataxia and white matter edema
Lichen Sclerosus Linear IgA dermatosis Lissencephaly
Listeriosis Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency long qt type 6
Lyme disease Lymphomatoid papulosis Machado-Joseph disease type 1
Machado-Joseph disease type 2 Machado-Joseph disease type 3 Madras motor neuron disease
Manganese poisoning Marfan syndrome Marinesco Sjogren Syndrome(Marinesco-Sjogren syndrome)
Marshall syndrome Mastocytosis McCune-Albright syndrome
MED13L Syndrome Medium chain acyl-CoA dehydrogenase deficiency Megalencephaly-capillary malformation-polymicrogyria syndrome
Melorheostosis with osteopoikilosis Microcystic lymphatic malformation Microscopic polyangiitis
Middle ear myoclonus Miller-Dieker syndrome Miscellaneous movement disorder due to genetic neurodegenerative disease
Misophonia Mitochondrial disease Mitochondrial disease with eye involvement
Mitochondrial disease with peripheral neuropathy Mixed connective tissue disease Moderate and severe traumatic brain injury
Moebius syndrome Monomelic amyotrophy Monosomy 18p
Monosomy 22q13 Mowat-Wilson syndrome Moyamoya disease
Mucinous adenocarcinoma of the appendix Muckle-Wells syndrome Mucolipidosis type 4
Mucopolysaccharidosis type 2, severe form Mucopolysaccharidosis type 3 Mucopolysaccharidosis type 6
Mucopolysaccharidosis type 7 Multiple endocrine neoplasia Multiple endocrine neoplasia type 1
Multiple endocrine neoplasia type 2A Multiple endocrine neoplasia type 2B Multiple epiphyseal dysplasia
Multiple osteochondromas Multiple system atrophy Multiple system atrophy, cerebellar type
Multiple system atrophy, parkinsonian type Muscle filaminopathy Myasthenia gravis
Myelomeningocele Myofibrillar myopathy Myotonic dystrophy
Narcolepsy type 1 Narcolepsy type 2 Narcolepsy without cataplexy
Narcolepsy-cataplexy NARP syndrome Neonatal antiphospholipid syndrome
Nephroblastoma Nephropathy secondary to a storage or other metabolic disease Neuroblastoma
Neurodegeneration with brain iron accumulation Neurofibromatosis type 1 Neurofibromatosis type 1 due to NF1mutation or intragenic deletion
Neurofibromatosis type 2 Neuronal ceroid lipofuscinosis New daily-persistent headache
Non-acquired combined pituitary hormone deficiency Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency Non-hereditary degenerative ataxia
Non-syndromic congenital cataract Noonan syndrome Oculocerebrorenal syndrome
Odontohypophosphatasia Oligodontia Olivopontocerebellar atrophy - deafness
Ondine syndrome Optic neuropathy Optic pathway glioma
Ornithine transcarbamylase deficiency Osteogenesis imperfecta Osteogenesis imperfecta type 1
Osteopetrosis Other Other acquired skin disease
Other metabolic disease with epilepsy Panhypopituitarism Pars Planitis Uveitis
Partial androgen insensitivity syndrome Partial deletion of the long arm of chromosome 1 Partial deletion of the short arm of chromosome 1
Partial duplication of the short arm of chromosome 4 Patent foramen ovale Peroxisome biogenesis disorder-Zellweger syndrome spectrum
Perrault syndrome Peters anomaly Peters anomaly - cataract
PHACE syndrome Phenylketonuria Pierre Robin syndrome associated with collagen disease
Pitt-Hopkins syndrome Pituitary deficiency due to empty sella turcica syndrome PMM2-CDG
POEMS syndrome Poland syndroe Polyostotic fibrous dysplasia
Pontine tegmental cap dysplasia Post-Head Injury Ataxia Postpoliomyelitic syndrome
Post-Stroke Ataxia Postural Orthostatic Tachycardia Syndrome Potocki-Shaffer syndrome
Prader-Willi syndrome Precocious puberty Preeclampsia
Prenatal benign hypophosphatasia Primary lateral sclerosis Primary myoclonus
Primary sclerosing cholangitis Primary tethered chord syndrome Progressive multifocal leukoencephalopathy
Prolactinoma Progressive supranuclear palsy Proximal 16p11.2 microduplication syndrome
Proximal spinal muscular atrophy type 3 PTEN hamartoma tumor syndrome Pulmonary arterial hypertension
Pulmonary interstitial glycogenosis Pure autonomic failure Pyoderma gangrenosum - acne - suppurative hidradenitis
Qualitative or quantitative defects of filamin C Qualitative or quantitative defects of myofibrillar proteins Rare disorder with dystonia and other neurologic or systemic manifestation
Rare endometriosis Rare genetic hypothalamic or pituitary disease Rare genetic intellectual disability with developmental anomaly
Rare headache Rare hereditary ataxia Rare hyperparathyroidism
Rare pulmonary hypertension Rare uterine cancer Reactive arthritis
Recessive mitochondrial ataxia syndrome Recurrent infections associated with rare immunoglobulin isotypes deficiency Refractory celiac disease
Relapsing polychondritis Retinitis pigmentosa Rett syndrome
Ring chromosome 14 Rocky Mountain spotted fever Romano-Ward syndrome
Sanfilippo syndrome type A Sanfilippo syndrome type B Sarcoidosis
Schinzel-Giedion syndrome Scleredema Secondary syringomyelia
Selective IgM deficiency Semicircular canal dehiscence syndrome Sensory ataxic neuropathy - dysarthria - ophthalmoparesis
Sickle cell - beta-thalassemia disease Silver-Russell syndrome Simple cryoglobulinemia
Sjögren syndrome Sleep disorder Smith-Lemli-Opitz syndrome
Solar urticaria Spastic ataxia Spina bifida - hypospadias
Spinocerebellar ataxia - Unknown Spinocerebellar ataxia type 1 Spinocerebellar ataxia type 10
Spinocerebellar ataxia type 11 Spinocerebellar ataxia type 12 Spinocerebellar ataxia type 13
Spinocerebellar ataxia type 14 Spinocerebellar ataxia type 15/16 Spinocerebellar ataxia type 17
Spinocerebellar ataxia type 18 Spinocerebellar ataxia type 19/22 Spinocerebellar ataxia type 2
Spinocerebellar ataxia type 22 Spinocerebellar ataxia type 28 Spinocerebellar ataxia type 29
Spinocerebellar ataxia type 3 Spinocerebellar ataxia type 31 Spinocerebellar ataxia type 38
Spinocerebellar ataxia type 4 Spinocerebellar ataxia type 5 Spinocerebellar ataxia type 6
Spinocerebellar ataxia type 7 Spinocerebellar ataxia type 8 Spinocerebellar ataxia type 20
Spinocerebellar ataxia with axonal neuropathy type 2 Spinocerebellar ataxia with oculomotor anomaly Sporadic adult-onset ataxia of unknown etiology
Sprengel deformity Sternal cleft Stickler syndrome
Stickler syndrome type 1 Stickler syndrome type 2 Stickler syndrome type 3
Stiff person syndrome and related disorders Syndromic aniridia Syndromic craniosynostosis
Syringomyelia Systemic Lupus Erythematosus Systemic mastocytosis
Systemic sclerosis Tay-Sachs disease Thomsen and Becker disease
Thrombotic thrombocytopenic purpura Tolosa-Hunt syndrome Townes-Brocks syndrome
Toxic Exposure ataxia Transposition of the great arteries Treacher-Collins syndrome
Trigeminal neuralgia TRIM63 Trisomy 10p
Tuberous sclerosis Tumor of cranial and spinal nerves Tumor necrosis factor receptor 1 associated periodic syndrome
Turner syndrome Type II mixed cryoglobulinemia Typical urticaria pigmentosa
Ulcerative colitis Unclassified autosomal dominant spinocerebellar ataxia Unclassified overlapping connective tissue disease
Undiagnosed Undifferentiated connective tissue syndrome Unknown leukodystrophy
Uveitis Ventricular septal defect Very long chain acyl-CoA dehydrogenase deficiency
Vestibular schwannoma Vitiligo-associated autoimmune disease WAGR syndrome
Waldenstrom macroglobulinemia West syndrome Wiedemann-Steiner syndrome
Wildervanck syndrome Wolf-Hirschhorn syndrome X-linked progressive cerebellar ataxia
Zellweger syndrome Wolfram syndrome X-linked hypophosphatemia


Enrolled Participant Countries

Albania Antigua and Barbuda Argentina
Australia Belgium Brazil
Bulgaria Canada Chile
Croatia Cyprus Denmark
Egypt Ethiopia Finland
France Georgia Germany
Greece Hong Kong Ice Land
India Ireland Israel
Italy Japan Lebanon
Malaysia Mexico Morocco
Nepal Netherlands New Zealand
Norway Pakistan Portugal
Puerto Rico Russia Saudi Arabia
Serbia Seychelles Singapore
Slovenia South Africa Spain
Sri Lanka Sweden Switzerland
Thailand United Arab Emirates United Kingdom
United States of America (USA)