The ADAMTS3 gene makes a protein that helps build lymph vessels, which drain extra fluid from tissues, and when it does not work properly, fluid can collect and cause long-term swelling. This gene helps your body keep fluid movement balanced and supports normal growth of cartilage and other connective tissues. When both copies carry a harmful variant, some people develop an inherited condition with lymph swelling from early life, and some may also have facial, growth, or learning differences. ADAMTS3 is mainly known in medical genetics rather than in popular culture.
What is a gene?
Genes are stretches of DNA that carry instructions your cells use to make molecules or direct processes in the body. Some genes hold the instructions for making proteins, the parts of cells that carry out much of their work. Other genes mainly regulate when certain processes happen, where they take place, and how strongly they run. Together, genes affect how the body develops and functions, and they can influence how you respond to food, stress, or medications. For a more in depth look at this topic, you can learn more in the LearnHub.
Overview
ADAMTS3Gene function
What if the gene works
The ADAMTS3 gene helps activate a growth signal needed to form lymphatic vessels. It also helps process collagen in cartilage, supporting normal tissue development.
Risk
What if the gene does not work
More disruptive variants in the ADAMTS3 gene can cause Hennekam syndrome, with lymphedema, intestinal lymph vessel problems, and sometimes developmental delay. Milder variants may lead to a wider range of symptoms and severity.
Treatment
What does that mean for your treatment
No ADAMTS3-specific treatment or drug selection approach is currently established for people with a pathogenic or loss-of-function variant in the ADAMTS3 gene. Care is guided by symptoms, while research is exploring the ADAMTS3 gene and the VEGF-C lymphatic pathway as possible future treatment targets.
Conditions associated with ADAMTS3
Gene function
What if the gene works
In your body, the ADAMTS3 gene helps build lymph vessels and prepares collagen for strong tissues. Its protein works outside cells, where it trims selected proteins so they can do their jobs. These everyday steps support fluid balance, tissue structure, and normal growth.
ADAMTS3 helps activate VEGF-C, a signal that guides lymphatic vessel growth. This supports the vessels that return extra fluid from tissues and help move fats and immune cells through the body.
ADAMTS3 trims certain early collagen building blocks before they are made into fibers. This helps connective tissues, especially developing cartilage, form orderly collagen that gives structure and support.
What is a variant?
A genetic variant is a minor change in a gene’s DNA sequence. These changes are common and are part of normal human diversity, including differences in appearance, metabolism, and the way the body responds to environmental influences. Many variants do not have any noticeable effect and are simply part of natural genetic variation. In some situations, though, a variant can change how a gene works more significantly and may contribute to or cause a genetic condition.
Genetic variants
What if the gene does not work
ADAMTS3 gene variants can affect protein function by reducing how much enzyme is made, disrupting folding or secretion, or weakening its ability to activate VEGFC, a signal that helps lymphatic vessels form. Milder variants may leave some activity, while more disruptive variants, such as truncating or splice-altering changes, can greatly reduce or remove activity. In people with ADAMTS3-related Hennekam syndrome, less remaining activity can be linked to earlier onset or broader features.
How variants are linked to conditions
Pathogenic variants in both copies of the ADAMTS3 gene cause Hennekam syndrome, so the link between ADAMTS3 gene variants and Hennekam syndrome is well established. This rare inherited condition is associated with lymphedema, meaning long lasting swelling, and enlarged lymph vessels that can affect the intestines or other tissues. Some people also have distinctive facial features and developmental differences.
A variant is not necessarily a diagnosis
Genetic variants are a natural feature of human biology and are widely found in the general population. Most do not have a direct impact on health and simply represent normal human diversity. For many genes, carrying a variant associated with a condition indicates a possible link rather than a certain diagnosis, especially when multiple genes and environmental factors play a part. In some situations, though, a single well-characterized variant in a specific gene is enough to confirm a diagnosis.
Are there things that can increase or change my risk?
For conditions linked to the ADAMTS3 gene, risk is mainly shaped by the gene changes a person is born with, especially if both parents carry a changed copy. There is not yet broadly confirmed evidence that lifestyle or environmental factors meaningfully increase or reduce this inherited risk.
Inheritance of ADAMTS3 variants
ADAMTS3 inheritance usually follows an autosomal recessive pattern. This means a person typically has the condition only when they inherit two disease causing variants in the ADAMTS3 gene, one from each parent. Parents who each carry one variant are often unaffected carriers, and with each pregnancy they have a 25% chance of having an affected child, a 50% chance of having a child who is also a carrier, and a 25% chance of having a child who inherits neither variant.
What does my ADAMTS3 result mean for my family?
Changes in the ADAMTS3 gene are linked to a rare inherited condition that usually runs in families in a recessive pattern. For family members, this often means parents may be healthy carriers, and brothers or sisters could also be carriers or, less often, have the condition. Other relatives may also carry the gene change, especially on the same side of the family.
Genetic information
Genetic testing
How you find out about variants
Variants in the ADAMTS3 gene are found with genetic testing, usually from a blood sample or saliva sample. ADAMTS3 genetic testing reads the gene's DNA code and looks for changes that may help explain a person's condition or confirm a suspected inherited cause. Results are interpreted alongside symptoms and family history.
When should I consider getting a genetic test?
Consider ADAMTS3 testing if a child is born with, or develops early, unexplained swelling caused by lymph fluid buildup, especially if there are gut lymph vessel problems or a family history of similar symptoms. Testing may help confirm a rare inherited lymphatic condition and clarify the chance of it occurring again in the family.
A genetic result is only one part of your health story
Genetic results can provide useful insight, but how much they reveal depends on the condition and the specific type of variant involved. Over time, the way the body functions is also shaped by factors such as lifestyle, environment, age, and medical history. For some conditions, especially those influenced by many genes, genetic information provides context rather than certainty and is most useful when considered alongside other parts of care. In other situations, a genetic result may offer a clear answer. In areas like medication response, genetic results can also help put individual experiences into perspective.
Pharmacogenetics
How variants shape your response to medicine
Genetic variation can affect how people respond to medicines. This helps explain why the same treatment works well for one person, seems less effective for another, or causes more side effects in someone else. Part of the difference comes from how each body absorbs, breaks down, and clears a drug, which can change how much medicine reaches its target. These differences are common and can influence both treatment benefit and how sensitive a person is to a medication.
What is Pharmacogenetics?
Pharmacogenetics examines how differences in a person’s genes can affect the way they respond to medicines. It studies gene drug patterns to help explain why the same treatment may work differently from one person to another. For many medicines, genes can influence how strongly a drug works or how the body handles it. This information can support more informed, more individualized treatment decisions. More detail on this topic is available in the LearnHub.
Drugs influenced by the ADAMTS3 gene
When should I seek medical advice?
There is no broadly confirmed role for this gene in guiding medication choices at this time, so questions about side effects, treatment changes, or your overall health are best discussed with your doctor or pharmacist.