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 03/07/2017
3,567 Fully enrolled* participants
116 Eligible** Participants
3,568 Total
547+ 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 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 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
CACH 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 Channelopathy due to a voltage-gated sodium 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 Crohn disease
Cryoglobulinemic vasculitis Cutaneous leukocytoclastic angiitis Cutis marmorata telangiectatica congenita
Dementia pugilistica 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 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 long QT syndrome Familial medullary thyroid carcinoma Familial or sporadic hemiplegic migraine
Familial paroxysmal ataxia Familial restrictive cardiomyopathy Familial Scheuermann disease
Familial symmetric lipomatosis FBX011 alteration Feingold syndrome
Fibromuscular dysplasia of arteries Fibromyalgia Fragile X syndrome
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 Growth Hormone Deficiency Hashimoto hypothyroidism
Hashimoto thyroiditis Hemimegalencephaly Hemoglobin E - beta-thalassemia
Hereditary cerebral cavernous malformation 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 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 Leukoencephalopathy with mild cerebellar ataxia and white matter edema 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
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
Miller-Dieker syndrome Miscellaneous movement disorder due to genetic neurodegenerative disease 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 Progressive multifocal leukoencephalopathy 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 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 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 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 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 Wolfram syndrome X-linked hypophosphatemia
X-linked progressive cerebellar ataxia 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)