CSNK2A1 Foundation

Cycle 3
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Okur-Chung Neurodevelopmental Syndrome (OCNDS) (OMIM # 617062) is a rare genetic disorder first identified in 2016. Everyone with OCNDS has some degree of developmental delay and/or differences in brain function.

Last updated 04/30/2025

Clinical
Disease Class
Bone diseases
Cardiac malformations
Ciliopathies
Developmental anomalies during embryogenesis
Endocrine diseases
Gastroenterological diseases
Genetic diseases
Immunological diseases
Neurological diseases
Odontological diseases
Ophthalmic diseases
Respiratory diseases
Skin diseases
Body Systems
Cardiovascular / Circulatory
Digestive
Endocrine
Hematopoietic / Lymphatic / Immune
Integumentary / Exocrine
Muscular / Skeletal
Nervous / Sensory
Renal / Urinary / Excretory
Respiratory
Organs
Bladder
Bones
Brain
Connective tissue / joints
Ears
Eyes
Heart
Intestines
Lungs
Lymph fluid, nodes, ducts, vessels
Mouth / teeth
Muscles
Nose
Scrotum
Skin
Spinal cord
Spleen
Stomach
Testes
Thyroid
Known Genetic Link
Yes, one or more genes directly cause the condition
causative_genes
CSNK2A1
contributory_genes
None specified / unknown
Type of Inheritance
Autosomal dominant
De novo
Newborn Screening
No
Disease Mechanism(s)
Aberrant immune response
Altered substrate specificity of kinase
Cilia dysfunction
Enzyme deficiency
Mitochondrial defects
Mitochondrial disorder
Pathogenic mutation
mTOR pathways dysregulation
Age of Onset
Early childhood (age 1+-5)
Infancy (age 0-1)
Prebirth
Average Age at Diagnosis
Middle childhood (6-11)
Life Expectancy
Adulthood (age 18-64)
Affected Sex(es)
Female
Male
National Prevalence
101-1000
Global Prevalence
101-1000
National Incidence
Less than 10
Global Incidence
Less than 10
Populations and/or ancestry with higher prevalence
~33% of registered individuals are located in the United States. OCNDS can only be diagnosed via whole exome or whole genome sequencing; in countries that lack access to this type of testing, we are missing a large portion of our population.
Symptoms / Phenotypes
abnormal brain features
abnormal skeletal morphology
abnormality of joint mobility
abnormality of the dentition
autism
behavioral changes
carious teeth/dental cavities
cerebral palsy
constipation
delayed ability to walk
feeding difficulties
gait abnormalities / gait disturbance
gastroesophageal reflux
hernia
hip dysplasia
hypotonia
infection, ear / otits media
infection, lung
intellectual disability
microcephaly
seizures / epilepsy
short stature
sleep disorders
speech delay
vision problems
Biomarkers
None
Existing Therapies
Off-Label Drug Use
Other
· Speech therapy including assistive communication starting at 12 months of age Intellectual and behavioral assessments with appropriate educational support Physical and occupational therapy Monitoring growth and use of G-tubes if there are persistent feeding issues.
Organizational & Research
Cell Lines
Fibroblasts
iPSCs
Cell Lines, Institution
Simons Searchlight
Translational Genomics Research Institute (TGen)
Cell Lines, Involvement
Consulted
Funded
Cell Lines, share
All our cell lines are freely available
Disease Model
Drosophila/fly
Mouse
Zebrafish
Disease Model, Involvement
Consulted
Funded
Disease Model, share
Some of our disease models are freely available
Clinical Trial Role
Meeting with regulators
Biobank, Institution
None
Center of Excellence, Institution
None
Registry
Yes, we have a registry that we created
Data Collected, Registry
Genetic data
Patient contact info
Data Entered by, Registry
Other
Platform, Registry
Other
Natural History Study
Yes, we have collaborated on a natural history study
Data Collected, Natural History Study
Genetic data
Medication usage
Patient-reported outcomes
Prospective data
Retrospective data
Platform, Natural History Study
Other
FDA Patient Listening Session
Yes
FDA Patient-Focused Drug Development (PFDD) Program
No
ICD Codes
We are working on obtaining an ICD-10 code
Diagnostic Guidelines
No
Science Advisory Board Policies
Yes, willing to share SAB policies
Research Network Policies
Has CRN but no policies
Research Roadmap
Yes we have a Research Roadmap, and will share policies
International Chapters
None
International Partners
None