ENG Gene Variant rs267606783: Understanding HHT Associations
The variant rs267606783 is located within the ENG gene, which provides instructions for making the endoglin protein. This specific genetic change is associated with hereditary hemorrhagic telangiectasia (HHT), a condition characterized by abnormal blood vessel formation.
What each genotype means
Typical ENG genotype
This genotype represents the common, non-variant form of the ENG gene at this specific location. It is not associated with the genetic changes linked to hereditary hemorrhagic telangiectasia in this region.
This is the most common genotype found in the general population across all ancestries.
Rare variant carrier
This genotype indicates the presence of a rare variant in the ENG gene. Because this variant is associated with hereditary hemorrhagic telangiectasia, a condition characterized by abnormal blood vessel formation, you should discuss these findings with a genetic counselor or physician to understand if this result is clinically relevant to your health history.
This genotype is extremely rare and is observed at a very low frequency in global population databases.
Rare variant homozygous
This genotype indicates that both copies of the ENG gene carry this rare variant. Given the association of this gene with hereditary hemorrhagic telangiectasia, this finding warrants professional clinical evaluation to determine its significance for your health.
This genotype is exceptionally rare and is not typically observed in standard population frequency datasets.
Understanding the ENG Gene
The ENG gene is located on chromosome 9 and is responsible for producing a protein called endoglin. Endoglin is a transmembrane glycoprotein that acts as a co-receptor for transforming growth factor-beta (TGF-β) signaling, a pathway essential for maintaining the structural integrity of blood vessels. By regulating how endothelial cells—the cells that line the interior surface of blood vessels—communicate and proliferate, endoglin plays a critical role in vascular development and stability. When the ENG gene is altered, the resulting endoglin protein may be non-functional or absent, leading to a state of haploinsufficiency. This means the body does not produce enough functional protein to maintain normal vascular health, which is the primary mechanism underlying HHT type 1. Understanding this gene is fundamental to grasping how specific variants can disrupt the delicate balance of blood vessel formation throughout the body.
The Role of rs267606783 in HHT
The variant rs267606783 is identified in the context of hereditary hemorrhagic telangiectasia (HHT), an autosomal dominant disorder. HHT is characterized by multisystemic vascular dysplasia, where arteriovenous malformations (AVMs) form because the connections between arteries and veins lack the necessary intervening capillaries. Research indicates that pathogenic variants in the ENG gene are a primary cause of HHT type 1. While clinical diagnosis of HHT is typically based on the Curaçao criteria—which include symptoms like recurrent nosebleeds, telangiectasias, and visceral AVMs—genetic testing is often used to confirm the diagnosis. The evidence linking variants in the ENG gene to HHT is strong, as these mutations disrupt the TGF-β signaling pathway, leading to the characteristic vascular fragility seen in affected individuals. It is important to note that phenotypic expression can vary significantly, even among family members who carry the same genetic variant.
Population Frequency and Clinical Context
The variant rs267606783 is considered rare in the general population. Because HHT is a condition that often requires clinical management, individuals who suspect they may have the condition or who have a family history of HHT are encouraged to consult with a genetic counselor or a specialist at a designated HHT Center of Excellence. Genetic testing is not a substitute for a clinical evaluation, as the diagnosis of HHT is primarily clinical. Furthermore, because HHT can involve complex organ systems, including the lungs, brain, and liver, medical management is highly individualized. If you have received results indicating the presence of this variant, it is essential to discuss these findings with a healthcare professional who can provide context based on your personal and family medical history. They can help determine if further screening or specialized care is appropriate for your specific situation.
How common is this variant?
The variant rs267606783 is rare across all major ancestral populations. It is not a common polymorphism found in the general healthy population.
Frequently asked questions
What is hereditary hemorrhagic telangiectasia (HHT)?
HHT is a genetic disorder that causes abnormal blood vessel development, leading to fragile vessels that can bleed easily. It often presents with symptoms like frequent nosebleeds and small red spots on the skin called telangiectasias.
Does having an ENG variant mean I have HHT?
Not necessarily. While pathogenic variants in the ENG gene are a known cause of HHT, a clinical diagnosis is usually based on specific criteria like the Curaçao criteria. You should consult a medical geneticist to interpret your results.
Is there a cure for HHT?
There is currently no cure for HHT, but the condition is manageable. Treatment focuses on preventing and treating complications, such as managing anemia or addressing arteriovenous malformations in organs like the lungs or brain.
Should I get tested for HHT if a family member has it?
If a family member has a confirmed diagnosis of HHT, genetic counseling and testing are often recommended for relatives. A specialist can help you understand your risk and the potential benefits of screening.
Sources & further reading
Educational information only, last refreshed 10/1/2026. Not medical advice — these associations describe population statistics, not individual predictions.
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Genetic variant identified in the ENG gene, relevant for clinical screening of vascular disorders.
A known pathogenic mutation in the ENG gene linked to vascular malformations.
Pathogenic variant in the ENG gene associated with hereditary hemorrhagic telangiectasia type 1.
A variant in the ENG gene potentially impacting protein function related to vascular development.
This variant is located within the ENG gene, which is associated with hereditary hemorrhagic telangiectasia.
Clinically significant variant in the ENG gene associated with hereditary hemorrhagic telangiectasia.