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 01/03/2017
3,321 Fully enrolled* participants
124 Eligible** Participants
3,445 Total
508+ 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 1q44 microdeletion syndrome
22q11.2 deletion 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 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
Arachnoiditis Arnold-Chiari malformation type I Arterial thoracic outlet syndrome
Arteriovenous malformation 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 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 Capillary malformation  
Cerebellar ataxia - hypogonadism Cardiofaciocutaneous syndrome Cerebellar ataxia with peripheral neuropathy
Cerebral cavernous malformations Channelopathy due to a voltage-gated potassium channel defect Charcot-Marie-Tooth disease
Childhood apraxia of speech Childhood-onset hypophosphatasia 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 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 glaucoma
Congenital heart malformation Congenital hydrocephalus Congenital hypothyroidism
Congenital laryngomalacia 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 Cryoglobulinemic vasculitis
Cutaneous leukocytoclastic angiitis Cutis marmorata telangiectatica congenita 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 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 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 atypical multiple mole melanoma syndrome Familial dysautonomia
Familial hypobetalipoproteinemia Familial isolated congenital asplenia Familial medullary thyroid carcinoma
Familial or sporadic hemiplegic migraine Familial paroxysmal ataxia Familial restrictive cardiomyopathy
Familial Scheuermann disease Familial symmetric lipomatosis Feingold syndrome
Fibromuscular dysplasia of arteries Fibromyalgia Fragile X syndrome
Friedreich ataxia Functional Neurological Disorder (FND) Ganglioneuroblastoma
Gastrointestinal stromal tumor Generalized pustular psoriasis Gliadin/Gluten ataxia
Glucose transport disorder Goldenhar syndrome Granuloma Annulare
Hashimoto hypothyroidism Hashimoto thyroiditis Hemimegalencephaly
Hereditary cerebral cavernous malformation Hereditary episodic ataxia Hereditary hemorrhagic telangiectasia
Hereditary neuropathy with liability to pressure palsies Hereditary spastic paraplegia 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 hypophosphatasia
Infection or post infection ataxia Intellectual disability - short stature - h Interstitial cystitis
Isaac syndrome Isolated aniridia Isolated Klippel-Feil syndrome
Isolated Pierre Robin syndrome 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
Leigh syndrome Leiomyosarcoma Leiomyosarcoma of small intestine
Leiomyosarcoma of the cervix uteri Leiomyosarcoma of the corpus uteri Linear IgA dermatosis
Lissencephaly Listeriosis Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Lyme disease Lymphomatoid papulosis Machado-Joseph disease type 1
Machado-Joseph disease type 2 Machado-Joseph disease type 3 Madras motor neuron disease
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 Miller-Dieker syndrome
Misophonia Mitochondrial disease 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
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 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 Pitt-Hopkins syndrome Pituitary deficiency due to empty sella turcica syndrome
PMM2-CDG 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 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 Reactive arthritis
Recessive mitochondrial ataxia syndrome Refractory celiac disease Relapsing polychondritis
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 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
Townes-Brocks syndrome Toxic Exposure ataxia Transposition of the great arteries
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 Undiagnosed
Undifferentiated connective tissue syndrome Unknown leukodystrophy Uveitis
Very long chain acyl-CoA dehydrogenase deficiency Vestibular schwannoma Vitiligo-associated autoimmune disease
WAGR syndrome West syndrome Wildervanck syndrome
Wolf-Hirschhorn syndrome X-linked hypophosphatemia Zellweger syndrome


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)