ADAMTS13 Chromosome 9
ADAM metallopeptidase with thrombospondin type 1 motif 13
Upload your DNA to see your personal genotypes for variants in ADAMTS13.
What This Gene Does
This gene encodes a member of a family of proteins containing several distinct regions, including a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. The enzyme encoded by this gene specifically cleaves von Willebrand Factor (vWF). Defects in this gene are associated with thrombotic thrombocytopenic purpura. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
Gene Info
Gene Group
ADAM metallopeptidases with thrombospondin type 1 motif
Locus Type
gene with protein product
Location
9q34.2
Ensembl
ENSG00000160323
Associated Conditions (11)
Upshaw-Schulman syndrome
Inborn genetic diseases
ADAMTS13-related disorder
Thrombus
See cases
Ovarian serous cystadenocarcinoma
Cervical cancer
Atypical hemolytic-uremic syndrome
Thrombotic thrombocytopenic purpura
Thrombocytopenia
Abnormal bleeding
Key Variants
RS11575933
Conflicting classifications of pathogenicity
Upshaw-Schulman syndrome, Upshaw-Schulman syndrome
Health Risk
RS1183963868
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS138014548
Conflicting classifications of pathogenicity
Upshaw-Schulman syndrome, Upshaw-Schulman syndrome
Health Risk
RS138489501
Conflicting classifications of pathogenicity
Upshaw-Schulman syndrome, Upshaw-Schulman syndrome
Health Risk
RS138699340
Conflicting classifications of pathogenicity
Upshaw-Schulman syndrome, Inborn genetic diseases, Upshaw-Schulman syndrome
Health Risk
RS139214644
Conflicting classifications of pathogenicity
Upshaw-Schulman syndrome, Inborn genetic diseases, ADAMTS13-related disorder
Health Risk
RS1393965473
Conflicting classifications of pathogenicity
Upshaw-Schulman syndrome, Upshaw-Schulman syndrome
Health Risk
RS139951127
Conflicting classifications of pathogenicity
Upshaw-Schulman syndrome, Upshaw-Schulman syndrome
Health Risk
RS140628579
Conflicting classifications of pathogenicity
Upshaw-Schulman syndrome, Upshaw-Schulman syndrome
Health Risk
RS140639242
Conflicting classifications of pathogenicity
Upshaw-Schulman syndrome, Thrombus, ADAMTS13-related disorder
Health Risk
RS141811556
Conflicting classifications of pathogenicity
Upshaw-Schulman syndrome, Upshaw-Schulman syndrome
Health Risk
RS142214608
Conflicting classifications of pathogenicity
Upshaw-Schulman syndrome, Upshaw-Schulman syndrome
Health Risk
All Variants (166)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS281875287 | Health Risk | Likely pathogenic | Upshaw-Schulman syndrome, ADAMTS13-related disorder, Upshaw-Schulman syndrome |
| RS281875291 | Health Risk | Likely pathogenic | Upshaw-Schulman syndrome, Upshaw-Schulman syndrome |
| RS281875300 | Health Risk | Likely pathogenic | Upshaw-Schulman syndrome, Upshaw-Schulman syndrome |
| RS281875304 | Health Risk | Likely pathogenic | — |
| RS281875307 | Health Risk | Likely pathogenic | Upshaw-Schulman syndrome, Upshaw-Schulman syndrome |
| RS374840594 | Health Risk | Likely pathogenic | Upshaw-Schulman syndrome, Upshaw-Schulman syndrome |
| RS376606652 | Health Risk | Likely pathogenic | Upshaw-Schulman syndrome, Upshaw-Schulman syndrome |
| RS782463983 | Health Risk | Likely pathogenic | Upshaw-Schulman syndrome, Upshaw-Schulman syndrome, Upshaw-Schulman syndrome |
| RS782547718 | Health Risk | Likely pathogenic | Upshaw-Schulman syndrome, Upshaw-Schulman syndrome |
| RS782649881 | Health Risk | Likely pathogenic | Upshaw-Schulman syndrome, Upshaw-Schulman syndrome |
| RS782716712 | Health Risk | Likely pathogenic | Upshaw-Schulman syndrome, Upshaw-Schulman syndrome |
| RS121908467 | Health Risk | Pathogenic | Upshaw-Schulman syndrome, Upshaw-Schulman syndrome |
| RS121908468 | Health Risk | Pathogenic | Upshaw-Schulman syndrome, Upshaw-Schulman syndrome |
| RS121908470 | Health Risk | Pathogenic | Upshaw-Schulman syndrome, Thrombotic thrombocytopenic purpura, Upshaw-Schulman syndrome |
| RS121908474 | Health Risk | Pathogenic | Upshaw-Schulman syndrome, Upshaw-Schulman syndrome |
| RS121908475 | Health Risk | Pathogenic | Upshaw-Schulman syndrome, Upshaw-Schulman syndrome |
| RS121908476 | Health Risk | Pathogenic | Upshaw-Schulman syndrome, Upshaw-Schulman syndrome |
| RS121908477 | Health Risk | Pathogenic | Upshaw-Schulman syndrome, Upshaw-Schulman syndrome |
| RS121908478 | Health Risk | Pathogenic | Upshaw-Schulman syndrome, Upshaw-Schulman syndrome |
| RS1462004544 | Health Risk | Pathogenic | — |
| RS1554791280 | Health Risk | Pathogenic | Thrombotic thrombocytopenic purpura, Thrombotic thrombocytopenic purpura |
| RS1564443994 | Health Risk | Pathogenic | — |
| RS1588198044 | Health Risk | Pathogenic | Upshaw-Schulman syndrome, Upshaw-Schulman syndrome |
| RS1840019690 | Health Risk | Pathogenic | Upshaw-Schulman syndrome, Upshaw-Schulman syndrome |
| RS200847393 | Health Risk | Pathogenic | Upshaw-Schulman syndrome, Upshaw-Schulman syndrome |
| RS2490464967 | Health Risk | Pathogenic | Upshaw-Schulman syndrome, Upshaw-Schulman syndrome |
| RS2490499610 | Health Risk | Pathogenic | Upshaw-Schulman syndrome, Upshaw-Schulman syndrome |
| RS2490507903 | Health Risk | Pathogenic | — |
| RS2491047604 | Health Risk | Pathogenic | Thrombotic thrombocytopenic purpura, Thrombotic thrombocytopenic purpura |
| RS2491103284 | Health Risk | Pathogenic | Thrombotic thrombocytopenic purpura, Thrombotic thrombocytopenic purpura |
| RS2491124706 | Health Risk | Pathogenic | — |
| RS2491125282 | Health Risk | Pathogenic | — |
| RS2491125768 | Health Risk | Pathogenic | — |
| RS2491199196 | Health Risk | Pathogenic | — |
| RS2491349636 | Health Risk | Pathogenic | Thrombotic thrombocytopenic purpura, Thrombotic thrombocytopenic purpura |
| RS281875296 | Health Risk | Pathogenic | — |
| RS281875299 | Health Risk | Pathogenic | Thrombotic thrombocytopenic purpura, Thrombotic thrombocytopenic purpura |
| RS374655146 | Health Risk | Pathogenic | Upshaw-Schulman syndrome, Upshaw-Schulman syndrome |
| RS387906341 | Health Risk | Pathogenic | Upshaw-Schulman syndrome, Upshaw-Schulman syndrome |
| RS387906342 | Health Risk | Pathogenic | Upshaw-Schulman syndrome, Upshaw-Schulman syndrome |
| RS387906343 | Health Risk | Pathogenic | Upshaw-Schulman syndrome, Upshaw-Schulman syndrome |
| RS387906344 | Health Risk | Pathogenic | Upshaw-Schulman syndrome, Upshaw-Schulman syndrome |
| RS387906345 | Health Risk | Pathogenic | Upshaw-Schulman syndrome, Upshaw-Schulman syndrome |
| RS387906346 | Health Risk | Pathogenic | Upshaw-Schulman syndrome, Upshaw-Schulman syndrome |
| RS748223519 | Health Risk | Pathogenic | Thrombocytopenia, Abnormal bleeding, Thrombocytopenia |
| RS781844824 | Health Risk | Pathogenic | — |
| RS782242503 | Health Risk | Pathogenic | ADAMTS13-related disorder, Upshaw-Schulman syndrome, ADAMTS13-related disorder |
| RS782288601 | Health Risk | Pathogenic | Upshaw-Schulman syndrome, Upshaw-Schulman syndrome |
| RS782546720 | Health Risk | Pathogenic | — |
| RS782570540 | Health Risk | Pathogenic | — |