PACS1 Syndrome Research Foundation

Cycle 2
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PACS1 Syndrome (also known as Schuurs-Hoeijmakers Syndrome) is a rare neuro-genetic disorder caused by a mutation of the PACS1 gene. All children with PACS1 Syndrome have the same exact change in the PACS1 gene making it a unique and more easily curable disease. People with PACS1 Syndrome have intellectual disabilities, global developmental delays, epilepsy, autism, and significant language impairments.

Last updated May 2024

Clinical
Disease Class
Rare genetic diseases
Rare neurological diseases
Body Systems
Cardiovascular / Circulatory
Digestive
Endocrine
Metabolic
Muscular / Skeletal
Nervous / Sensory
Renal / Urinary / Excretory
Reproductive
Organs
Brain
Ears
Esophagus
Eyes
Heart
Kidneys
Mouth / teeth
Muscles
Nose
Stomach
Testes
Genes
PACS1
Type of Inheritance
De novo
Disease Mechanism(s)
Pathogenic mutation
Age of Onset
Infancy (age 0-1)
Prebirth
Incidence
Unknown
Prevalence
51-100
Symptoms / Phenotypes
attention disorders / ADHD
autism
autistic behavior
behavioral changes
cardiac abnormalities
cryptorchidism
developmental delay
distinctive facial features
feeding difficulties
gait abnormalities / gait disturbance
gastroesophageal reflux
hypotonia
intellectual disability
obsessive compulsive disorder (OCD)
seizures / epilepsy
speech delay
speech problems / apraxia
Biomarkers
Diagnostic
· c.607C>T, p.Arg203Trp mutation in PACS1 gene
Existing Therapies
Other
· Seizure medication
Organizational & Research
Cell Lines
Fibroblasts
iPSCs
Cell Lines, location
Coriell Institute
WiCell Research Institute
Cell Lines, share
No
Disease Model
C. elegans
Mouse
Organoids
Disease Model, location
Jackson Laboratories (JAX)
Northwestern University, Feinberg School of Medicine
Disease Model, share
No
Clinical Trial Role
Not involved
Biobank
None
Center of Excellence
None
Registry
No, we do not have a registry, but we plan to create one
Natural History Study
No, we do not have a natural history study, but we plan to create or collaborate on one
FDA Patient Listening Session
No
FDA Patient-Focused Drug Development (PFDD) Program
No
ICD Codes
No, we do not have any ICD codes
Diagnostic Guidelines
No
Clinical/Treatment Guidelines
No
Organizational Roles
No full-time staff
Science Advisory Board Policies
No policies
Research Network Policies
Has CRN but no policies
Research Roadmap
We don't have a Research Roadmap
International Chapters
None
International Partners
Europe