loading...| Preferred Name |
THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE |
|
| Synonyms |
PCCF DEFICIENCY THPH2 THROMBOPHILIA DUE TO DEFICIENCY OF ACTIVATED PROTEIN C COFACTOR ACTIVATED PROTEIN C RESISTANCE PROC COFACTOR DEFICIENCY THROMBOPHILIA DUE TO FACTOR V LEIDEN APC RESISTANCE THROMBOPHILIA V |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/188055 |
|
| altLabel |
PCCF DEFICIENCY THPH2 THROMBOPHILIA DUE TO DEFICIENCY OF ACTIVATED PROTEIN C COFACTOR ACTIVATED PROTEIN C RESISTANCE PROC COFACTOR DEFICIENCY THROMBOPHILIA DUE TO FACTOR V LEIDEN APC RESISTANCE THROMBOPHILIA V |
|
| cui |
C1861171 C0600433 |
|
| Gene Locus |
1q23 |
|
| Gene Symbol |
RPRGL1 F5 THPH2 |
|
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU023822 http://purl.bioontology.org/ontology/OMIM/MTHU002871 http://purl.bioontology.org/ontology/OMIM/MTHU023820 |
|
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
|
| notation |
188055 |
|
| OMIM Entry Type |
3 |
|
| OMIM MimType Value |
pound |
|
| prefLabel |
THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE |
|
| Scope Statement |
Homozygotes have more severe disease with earlier onset of thrombosis [MISCELLANEOUS] Thrombosis triggered by pregnancy, oral contraceptives, trauma, surgery [MISCELLANEOUS] Most cases are caused by the factor V Leiden mutation (R506Q, 612309.0001) [MISCELLANEOUS] Onset of symptoms usually in adulthood [MISCELLANEOUS] Caused by mutation in the coagulation factor V gene (F5, 612309.0001) [MOLECULAR BASIS] |
|
| tui |
T047 |