ENG Chromosome 9
Endoglin
Upload your DNA to see your personal genotypes for variants in ENG.
What This Gene Does
This gene encodes a homodimeric transmembrane protein which is a major glycoprotein of the vascular endothelium. This protein is a component of the transforming growth factor beta receptor complex and it binds to the beta1 and beta3 peptides with high affinity. Mutations in this gene cause hereditary hemorrhagic telangiectasia, also known as Osler-Rendu-Weber syndrome 1, an autosomal dominant multisystemic vascular dysplasia. This gene may also be involved in preeclampsia and several types of cancer. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2013]
Gene Info
Gene Group
CD molecules
Locus Type
gene with protein product
Location
9q34.11
Ensembl
ENSG00000106991
Associated Conditions (27)
Hereditary hemorrhagic telangiectasia
Cardiovascular phenotype
Telangiectasia
hereditary hemorrhagic
type 1
ENG-related disorder
Haemorrhagic telangiectasia 1
Pulmonary hypertension
primary
1
Ovarian serous cystadenocarcinoma
Clear cell carcinoma of kidney
Cervical cancer
See cases
Nonpapillary renal cell carcinoma
Pulmonary arterial hypertension
Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia
Palate telangiectasia
Spontaneous
recurrent epistaxis
+7 more conditions
Key Variants
RS1029569378
Conflicting classifications of pathogenicity
Hereditary hemorrhagic telangiectasia, Cardiovascular phenotype, Hereditary hemorrhagic telangiectasia
Health Risk
RS1040594389
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Cardiovascular phenotype
Health Risk
RS1060501415
Conflicting classifications of pathogenicity
Hereditary hemorrhagic telangiectasia, Cardiovascular phenotype, Hereditary hemorrhagic telangiectasia
Health Risk
RS1060501425
Conflicting classifications of pathogenicity
Hereditary hemorrhagic telangiectasia, Cardiovascular phenotype, Telangiectasia
Health Risk
RS1064794221
Conflicting classifications of pathogenicity
Hereditary hemorrhagic telangiectasia, Cardiovascular phenotype, Hereditary hemorrhagic telangiectasia
Health Risk
RS121918402
Conflicting classifications of pathogenicity
Telangiectasia, hereditary hemorrhagic, type 1
Health Risk
RS1247391985
Conflicting classifications of pathogenicity
Telangiectasia, hereditary hemorrhagic, type 1
Health Risk
RS1289232116
Conflicting classifications of pathogenicity
Hereditary hemorrhagic telangiectasia, Cardiovascular phenotype, Hereditary hemorrhagic telangiectasia
Health Risk
RS1323617205
Conflicting classifications of pathogenicity
Hereditary hemorrhagic telangiectasia, Telangiectasia, hereditary hemorrhagic
Health Risk
RS1356571461
Conflicting classifications of pathogenicity
Hereditary hemorrhagic telangiectasia, Hereditary hemorrhagic telangiectasia
Health Risk
RS1370586541
Conflicting classifications of pathogenicity
Hereditary hemorrhagic telangiectasia, Cardiovascular phenotype, Hereditary hemorrhagic telangiectasia
Health Risk
RS139334561
Conflicting classifications of pathogenicity
Telangiectasia, hereditary hemorrhagic, type 1
Health Risk
All Variants (537)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1554809253 | Health Risk | Pathogenic | Palate telangiectasia, Spontaneous, recurrent epistaxis |
| RS1554809268 | Health Risk | Pathogenic | Hereditary hemorrhagic telangiectasia, Cardiovascular phenotype, Hereditary hemorrhagic telangiectasia |
| RS1554809331 | Health Risk | Pathogenic | Hereditary hemorrhagic telangiectasia, Hereditary hemorrhagic telangiectasia |
| RS1554809348 | Health Risk | Pathogenic | Hereditary hemorrhagic telangiectasia, Hereditary hemorrhagic telangiectasia |
| RS1554809355 | Health Risk | Pathogenic | Hereditary hemorrhagic telangiectasia, Hereditary hemorrhagic telangiectasia |
| RS1554809361 | Health Risk | Pathogenic | Hereditary hemorrhagic telangiectasia, Cardiovascular phenotype, Hereditary hemorrhagic telangiectasia |
| RS1554809446 | Health Risk | Pathogenic | Hereditary hemorrhagic telangiectasia, Hereditary hemorrhagic telangiectasia |
| RS1554809448 | Health Risk | Pathogenic | Hereditary hemorrhagic telangiectasia, Cardiovascular phenotype, Hereditary hemorrhagic telangiectasia |
| RS1554809450 | Health Risk | Pathogenic | Telangiectasia, hereditary hemorrhagic, type 1 |
| RS1554809455 | Health Risk | Pathogenic | Hereditary hemorrhagic telangiectasia, Hereditary hemorrhagic telangiectasia |
| RS1554810037 | Health Risk | Pathogenic | Telangiectasia, hereditary hemorrhagic, type 1 |
| RS1554810041 | Health Risk | Pathogenic | Hereditary hemorrhagic telangiectasia, Hereditary hemorrhagic telangiectasia |
| RS1554810051 | Health Risk | Pathogenic | Cardiovascular phenotype, Hereditary hemorrhagic telangiectasia, Cardiovascular phenotype |
| RS1554810066 | Health Risk | Pathogenic | Telangiectasia, hereditary hemorrhagic, type 1 |
| RS1554810174 | Health Risk | Pathogenic | Cerebral arteriovenous malformation, Hereditary hemorrhagic telangiectasia, Cerebral arteriovenous malformation |
| RS1554810177 | Health Risk | Pathogenic | Hereditary hemorrhagic telangiectasia, Cardiovascular phenotype, Hereditary hemorrhagic telangiectasia |
| RS1554810215 | Health Risk | Pathogenic | Telangiectasia, hereditary hemorrhagic, type 1 |
| RS1554810234 | Health Risk | Pathogenic | — |
| RS1554810249 | Health Risk | Pathogenic | Telangiectasia, hereditary hemorrhagic, type 1 |
| RS1554810254 | Health Risk | Pathogenic | — |
| RS1554810257 | Health Risk | Pathogenic | Hereditary hemorrhagic telangiectasia, Cardiovascular phenotype, Hereditary hemorrhagic telangiectasia |
| RS1554810272 | Health Risk | Pathogenic | Hereditary hemorrhagic telangiectasia, Cardiovascular phenotype, Telangiectasia |
| RS1554810405 | Health Risk | Pathogenic | Hereditary hemorrhagic telangiectasia, ENG-related disorder, Hereditary hemorrhagic telangiectasia |
| RS1554810490 | Health Risk | Pathogenic | Hereditary hemorrhagic telangiectasia, Telangiectasia, hereditary hemorrhagic |
| RS1554810494 | Health Risk | Pathogenic | — |
| RS1554810510 | Health Risk | Pathogenic | Hereditary hemorrhagic telangiectasia, Telangiectasia, hereditary hemorrhagic |
| RS1554810921 | Health Risk | Pathogenic | Hereditary hemorrhagic telangiectasia, Hereditary hemorrhagic telangiectasia |
| RS1554810928 | Health Risk | Pathogenic | Hereditary hemorrhagic telangiectasia, ENG-related disorder, Hereditary hemorrhagic telangiectasia |
| RS1554810932 | Health Risk | Pathogenic | Hereditary hemorrhagic telangiectasia, Cardiovascular phenotype, Hereditary hemorrhagic telangiectasia |
| RS1554810936 | Health Risk | Pathogenic | Hereditary hemorrhagic telangiectasia, ENG-related disorder, Hereditary hemorrhagic telangiectasia |
| RS1554812253 | Health Risk | Pathogenic | Hereditary hemorrhagic telangiectasia, Cardiovascular phenotype, Hereditary hemorrhagic telangiectasia |
| RS1554812283 | Health Risk | Pathogenic | Hereditary hemorrhagic telangiectasia, Cardiovascular phenotype, Hereditary hemorrhagic telangiectasia |
| RS1554813783 | Health Risk | Pathogenic | Telangiectasia, hereditary hemorrhagic, type 1 |
| RS1554813788 | Health Risk | Pathogenic | Hereditary hemorrhagic telangiectasia, Hereditary hemorrhagic telangiectasia |
| RS1564452060 | Health Risk | Pathogenic | Telangiectasia, hereditary hemorrhagic, type 1 |
| RS1564452075 | Health Risk | Pathogenic | Hereditary hemorrhagic telangiectasia, Cardiovascular phenotype, ENG-related disorder |
| RS1564452667 | Health Risk | Pathogenic | Hereditary hemorrhagic telangiectasia, Hereditary hemorrhagic telangiectasia, Hereditary hemorrhagic telangiectasia |
| RS1564452685 | Health Risk | Pathogenic | Hereditary hemorrhagic telangiectasia, Cardiovascular phenotype, Hereditary hemorrhagic telangiectasia |
| RS1564452747 | Health Risk | Pathogenic | Hereditary hemorrhagic telangiectasia, Telangiectasia, hereditary hemorrhagic |
| RS1564452759 | Health Risk | Pathogenic | Hereditary hemorrhagic telangiectasia, Hereditary hemorrhagic telangiectasia |
| RS1564453019 | Health Risk | Pathogenic | Hereditary hemorrhagic telangiectasia, Cardiovascular phenotype, Telangiectasia |
| RS1564453538 | Health Risk | Pathogenic | Hereditary hemorrhagic telangiectasia, Cardiovascular phenotype, Hereditary hemorrhagic telangiectasia |
| RS1564453619 | Health Risk | Pathogenic | Cardiovascular phenotype, Hereditary hemorrhagic telangiectasia, ENG-related disorder |
| RS1564453634 | Health Risk | Pathogenic | — |
| RS1564455604 | Health Risk | Pathogenic | Hereditary hemorrhagic telangiectasia, Hereditary hemorrhagic telangiectasia |
| RS1564455715 | Health Risk | Pathogenic | Hereditary hemorrhagic telangiectasia, Telangiectasia, hereditary hemorrhagic |
| RS1564455970 | Health Risk | Pathogenic | Hereditary hemorrhagic telangiectasia, Telangiectasia, hereditary hemorrhagic |
| RS1564456347 | Health Risk | Pathogenic | — |
| RS1564456374 | Health Risk | Pathogenic | Hereditary hemorrhagic telangiectasia, Hereditary hemorrhagic telangiectasia |
| RS1564462827 | Health Risk | Pathogenic | — |