CLOVES Syndrome Community

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CLOVES Syndrome stands for Congenital, Lipomatous, Overgrowth, Vascular Malformations, Epidermal Nevi and Spinal/Skeletal Anomalies and/or Scoliosis. CLOVES is caused by a somatic genetic mutation in a gene called PIK3CA that increases the activity of the gene. CLOVES belongs to a category of diseases known as PIK3CA-related overgrowth spectrum or PROS.

Last updated May 2024

Clinical
Disease Class
Rare developmental anomalies during embryogenesis
Rare genetic diseases
Rare, congenital, progressive multi-system disease
Body Systems
Cardiovascular / Circulatory
Digestive
Endocrine
Hematopoietic / Lymphatic / Immune
Metabolic
Muscular / Skeletal
Nervous / Sensory
Renal / Urinary / Excretory
Reproductive
Respiratory
Organs
Blood
Blood vessels (veins, arteries)
Bones
Brain
Connective tissue / joints
Ears
Heart
Intestines
Kidneys
Liver
Lungs
Lymph fluid, nodes, ducts, vessels
Muscles
Nose
Pancreas
Skin
Spinal cord
Stomach
Throat
Genes
PIK3CA
Type of Inheritance
De novo
Disease Mechanism(s)
Pathogenic mutation
Age of Onset
Prebirth
Incidence
11-50
Prevalence
101-1000
Symptoms / Phenotypes
asymmetric body parts
capillary malformation
cranial hyperostosis
infection, unspecified location
lipoma
lymphatic malformations
macrodactyly
muscle weakness
overgrowth of extremities
paralysis
pulmonary embolism
renal hypoplasia/aplasia
sandal gap
scoliosis / spinal curvature
seizures / epilepsy
spinal dysraphism
tethered cord
venous malformation
Biomarkers
Diagnostic
· Somatic PIK3CA mutation from tissue from overgrown areas of body
Existing Therapies
Drugs approved for the disease(s)
Drugs used off-label
· Sirolimus, Everolimus, Miransertib, Mekinist
Organizational & Research
Cell Lines
Fibroblasts
iPSCs
Cell Lines, location
Boston Children's Hospital
University College London (UCL)
University of Edinburgh
Cell Lines, share
Unknown
Disease Model
Mouse
Zebrafish
Disease Model, location
University of Dundee
Disease Model, share
Unknown
Clinical Trial Role
Other consulting
Recruitment and outreach, patients
Recruitment and outreach, trial sites/physicians
Biobank
None
Center of Excellence
None
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
Genetic data
Imaging data
Medication usage
Patient-reported outcomes
Platform, Natural History Study
AllStripes
IAMRARE
FDA Patient Listening Session
No
FDA Patient-Focused Drug Development (PFDD) Program
No
ICD Codes
We are working on obtaining an ICD-10 code
Diagnostic Guidelines
Yes
Clinical/Treatment Guidelines
Yes
Organizational Roles
Executive Director
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
Europe