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 May 2024
Clinical
Disease Class
Rare abdominal surgical diseases
Rare allergic disease
Rare bone diseases
Rare cardiac diseases
Rare cardiac malformations
Rare circulatory system diseases
Rare developmental anomalies during embryogenesis
Rare endocrine diseases
Rare gastroenterological diseases
Rare genetic diseases
Rare hematological diseases
Rare immunological diseases
Rare inborn errors of metabolism
Rare infectious diseases
Rare neurological diseases
Rare odontological diseases
Rare ophthalmic diseases
Rare otorhinolaryngological diseases
Rare renal diseases
Rare respiratory diseases
Rare skin diseases
Rare surgical maxillo-facial diseases
Rare surgical thoracic diseases
Rare systemic and rheumatological diseases
Rare systemic and rheumatological diseases of childhood
Rare teratologic disorders
Rare 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
Thyroid
Genes
KAT6A
KAT6B
Type of Inheritance
Autosomal dominant
Disease Mechanism(s)
Pathogenic mutation
Age of Onset
Prebirth
Incidence
Less than 10
Prevalence
101-1000
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)
· L-Carnitine and Pantothenic acid (vitamin B5)
Organizational & Research
Cell Lines
Fibroblasts
iPSCs
Cell Lines, location
Boston University
Cell Lines, share
Yes
Disease Model
Drosophila/fly
Mouse
Disease Model, location
Boston University
McGill University Health Centre
Technion Institute
Universidad Pablo de Olavide (UPO)
University of California, Los Angeles (UCLA)
Walter and Eliza Hall Institute of Medical Research (WEHI)
Disease Model, share
No
Clinical Trial Role
Data sharing
Funding
Recruitment and outreach, patients
Recruitment and outreach, trial sites/physicians
Travel coordination
Biobank
Boston University
Center of Excellence
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
Clinical/Treatment Guidelines
Yes
Organizational Roles
No full-time staff
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