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 05/01/2017
3,705 Fully enrolled* participants
112 Eligible** Participants
3,817 Total
580+ Diseases***
50 US States + DC
51 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 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 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 ongenital 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 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 Gliadin/Gluten ataxia
Glucose transport disorder Goldenhar syndrome Granuloma Annulare
Growth Hormone Deficiency Hashimoto hypothyroidism Hashimoto thyroiditis
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 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 duplication of the short arm of chromosome 4
Patent foramen ovale Peroxisome biogenesis disorder-Zellweger syndrome spectrum 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 Progressive supranuclear palsy Proximal 16p11.2 microduplication syndrome
Proximal spinal muscular atrophy type 3 PTEN hamartoma tumor syndrome Pulmonary arterial hypertension
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 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 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


United Arab Emirates United Kingdom

United States of America (USA)