Upshaw-Schulman Syndrome(Congenital thrombotic thrombocytopenic purpura) Explore Disorder's Alias
An Autosomal recessive mode(s) within the Blood disorders category
Candidate Gene Information
An Autosomal recessive mode(s) within the Blood disorders category
Reported Pathogenic variants
| S.No. | Name/GeneID | Description | Cytogentic Band | Gene Location on genomic DNA | Gene Length | Exons | Details | Gene Cross-References |
| 1 | ADAMTS13/11093 | ADAM metallopeptidase with thrombospondin type 1 motif 13 | 9q34.2 | Chr9, NC_000009.12 (133414337..133459386) |
45050 nt | 32 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information | ||||||||
| Disorder Cross-References: Orphanet OMIM GARD GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative NORD | ||||||||
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Clinical Symptoms & Disabilities