loading...| Preferred Name |
THROMBOTIC THROMBOCYTOPENIC PURPURA, HEREDITARY |
|
| Synonyms |
MICROANGIOPATHIC HEMOLYTIC ANEMIA, CONGENITAL |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/274150 |
|
| altLabel |
MICROANGIOPATHIC HEMOLYTIC ANEMIA, CONGENITAL UPSHAW-SCHULMAN SYNDROME USS THROMBOTIC THROMBOCYTOPENIC PURPURA, HEREDITARY, INFANTILE- OR ADULT-ONSET THROMBOTIC THROMBOCYTOPENIC PURPURA, FAMILIAL MICROANGIOPATHIC HEMOLYTIC ANEMIA THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL SCHULMAN-UPSHAW SYNDROME TTP UPSHAW FACTOR, DEFICIENCY OF THROMBOTIC MICROANGIOPATHY, FAMILIAL |
|
| cui |
C1956258 C1268935 |
|
| Gene Locus |
9q34 |
|
| Gene Symbol |
TTP ADAMTS13 VWFCP |
|
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU032649 http://purl.bioontology.org/ontology/OMIM/MTHU009061 http://purl.bioontology.org/ontology/OMIM/MTHU009070 http://purl.bioontology.org/ontology/OMIM/MTHU009067 http://purl.bioontology.org/ontology/OMIM/MTHU009065 http://purl.bioontology.org/ontology/OMIM/MTHU000212 http://purl.bioontology.org/ontology/OMIM/MTHU009068 http://purl.bioontology.org/ontology/OMIM/MTHU009062 http://purl.bioontology.org/ontology/OMIM/MTHU009066 http://purl.bioontology.org/ontology/OMIM/MTHU005420 http://purl.bioontology.org/ontology/OMIM/MTHU001772 http://purl.bioontology.org/ontology/OMIM/MTHU005439 http://purl.bioontology.org/ontology/OMIM/MTHU012768 http://purl.bioontology.org/ontology/OMIM/MTHU009071 http://purl.bioontology.org/ontology/OMIM/MTHU009074 http://purl.bioontology.org/ontology/OMIM/MTHU009073 http://purl.bioontology.org/ontology/OMIM/MTHU009072 http://purl.bioontology.org/ontology/OMIM/MTHU009063 http://purl.bioontology.org/ontology/OMIM/MTHU000013 http://purl.bioontology.org/ontology/OMIM/MTHU056817 |
|
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
|
| Moved from |
276850 |
|
| notation |
274150 |
|
| OMIM Entry Type |
3 |
|
| OMIM MimType Value |
pound |
|
| prefLabel |
THROMBOTIC THROMBOCYTOPENIC PURPURA, HEREDITARY |
|
| Scope Statement |
Triggered by pregnancy, drugs, chemotherapy, cancer, bone marrow transplantation, infection [MISCELLANEOUS] In adults, may be considered part of a spectrum with hemolytic-uremic syndrome (HUS, 235400) [MISCELLANEOUS] Genetic heterogeneity [MISCELLANEOUS] Caused by mutation in the von Willebrand-cleaving protease gene (ADAMTS13, 604134.0001) [MOLECULAR BASIS] Familial form - Constitutional deficiency of vWF-cleaving protease [MISCELLANEOUS] Acquired form - Presence of inhibiting autoantibody (IgG) to vWF-cleaving protease [MISCELLANEOUS] |
|
| tui |
T047 |