Lymphangiomatosis & Gorham's Disease Alliance, Inc. (LGDA)
Cycle 1
Complex Lymphatic Anomalies (CLAs) are a group of rare diseases that are characterized by abnormal growth of lymphatic vessels that may involve multiple organ systems, including lung, spleen, soft tissue and bones. CLAs include: Gorham Stout Disease (GSD), Generalized Lymphatic Anomaly (GLA), Kaposiform Lymphangiomatosis (KLA) and Central Conducting Lymphatic Anomaly (CCLA).n
Last updated May 2023
Clinical
Disease Class
Rare bone diseases
Rare cardiac diseases
Rare developmental anomalies during embryogenesis
Rare gastroenterological diseases
Rare genetic diseases
Rare hepatic diseases
Rare immunological diseases
Rare neurological diseases
Rare respiratory diseases
Rare skin diseases
Rare urogenital diseases
Body Systems
Cardiovascular / Circulatory
Digestive
Hematopoietic / Lymphatic / Immune
Muscular / Skeletal
Nervous / Sensory
Renal / Urinary / Excretory
Reproductive
Respiratory
Organs
Blood
Bones
Breasts
Connective tissue / joints
Heart
Intestines
Kidneys
Liver
Lungs
Penis
Skin
Stomach
Testes
Vagina
Vulva
Genes
MAPK
MTOR
None specified / unknown
PIK3CA
Type of Inheritance
De novo
Disease Mechanism(s)
mTOR pathways dysregulation
Symptoms / Phenotypes
abdominal swelling
abnormal brain features
anxiety
ascites
balance problems
bone break / fracture
bone pain
breathing difficulties
cardiac abnormalities
CSF leak
diarrhea
edema
fever
malnutrition
pain, abdominal
pain, chest
pleural effusion
protein-losing enteropathy
vomiting / nausea
Biomarkers
Diagnostic
· Angiopoietin 2 (Ang2)
Monitoring
· Angiopoietin 2 (Ang2)
Existing Therapies
Alternative treatments (eg. nutritional supplements)
· ketogenic diet
Drugs approved for the disease(s)
· Alpelisib
Drugs used off-label
· sirolimus, trametinib
Organizational & Research
Cell Lines
Primary lymphatic endothelial cells
Cell Lines, location
Not specified
Cell Lines, share
Yes
Disease Model
Mouse
Zebrafish
Disease Model, location
Not specified
Disease Model, share
Yes
Clinical Trial Role
Not involved
Biobank
None
Center of Excellence
None
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