KAT6A Foundation
Cycle 1
KAT6A syndrome, also known as Arboleda-Tham Syndrome (ARTHS), is a rare disorder resulting from a mutation in the KAT6A gene. KAT6B is a rare genetic syndrome resulting from a mutation in the KAT6B gene.
Last updated 04/30/2024
Clinical
Disease Class
Abdominal surgical diseases
Allergic disease
Bone diseases
Cardiac diseases
Cardiac malformations
Circulatory system diseases
Developmental anomalies during embryogenesis
Endocrine diseases
Gastroenterological diseases
Genetic diseases
Hematological diseases
Immunological diseases
Infectious diseases
Inherited metabolic disorder
Neurological diseases
Odontological diseases
Ophthalmic diseases
Otorhinolaryngological diseases
Renal diseases
Respiratory diseases
Skin diseases
Surgical maxillo-facial diseases
Surgical thoracic diseases
Systemic and rheumatological diseases
Systemic and rheumatological diseases of childhood
Teratologic disorders
Urogenital diseases
Body Systems
Cardiovascular / Circulatory
Digestive
Endocrine
Hematopoietic / Lymphatic / Immune
Metabolic
Muscular / Skeletal
Nervous / Sensory
Renal / Urinary / Excretory
Reproductive
Respiratory
Organs
Adrenal glands
Bladder
Blood
Blood vessels (veins, arteries)
Bone marrow
Bones
Brain
Connective tissue / joints
Ears
Esophagus
Eyes
Gallbladder
Heart
Intestines
Kidneys
Liver
Mouth / teeth
Muscles
Nose
Scrotum
Spinal cord
Stomach
Throat/pharynx
Thyroid
Type of Inheritance
Autosomal dominant
Disease Mechanism(s)
Pathogenic mutation
Age of Onset
Prebirth
National Prevalence
101-1000
National Incidence
Less than 10
Symptoms / Phenotypes
behavioral changes
cardiac abnormalities
constipation
craniosynostosis
distinctive facial features
feeding difficulties
immune deficiency / immunodeficiency
intellectual disability
intestinal malrotation
microcephaly
seizures / epilepsy
sleep disorders
speech delay
Biomarkers
Diagnostic
· whole exome sequencing
Existing Therapies
Alternative treatments (eg. nutritional supplements)
Organizational & Research
Cell Lines
Fibroblasts
iPSCs
Cell Lines, Institution
Boston University
Cell Lines, share
Yes
Disease Model
Drosophila/fly
Mouse
Disease Model, share
No
Clinical Trial Role
Data sharing
Funding
Recruitment and outreach, patients
Recruitment and outreach, trial sites/physicians
Travel coordination
Biobank, Institution
Boston University
Center of Excellence, Institution
Johns Hopkins Hospital
Kennedy Kreiger
Registry
Yes, we have a registry that we created
Data Collected, Registry
Clinical data
Genetic data
Imaging data
Longitudinal natural history data
Medication usage
Patient contact info
Patient-reported data
Data Entered by, Registry
Patients
Platform, Registry
IAMRARE
Natural History Study
Yes, we have a natural history study that we created
Data Collected, Natural History Study
Clinical endpoints (outcomes)
Genetic data
Medication usage
Patient-reported outcomes
Retrospective data
Platform, Natural History Study
IAMRARE
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
Yes
Science Advisory Board Policies
No 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
Asia
Europe
Middle East
Oceania