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Online Mendelian Inheritance in Man
Last uploaded:
August 28, 2024
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| 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 |
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| ID |
http://purl.bioontology.org/ontology/OMIM/188055 |
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| 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
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|
| cui |
C1861171 C0600433
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|
| Gene Locus |
1q23
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|
| Gene Symbol |
RPRGL1 F5 THPH2
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| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU023822 http://purl.bioontology.org/ontology/OMIM/MTHU002871 http://purl.bioontology.org/ontology/OMIM/MTHU023820 |
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| MIMTYPEMEANING |
Phenotype description, molecular basis known.
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|
| notation |
188055
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|
| OMIM Entry Type |
3
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| OMIM MimType Value |
pound
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|
| prefLabel |
THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE
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| 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]
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|
| tui |
T047
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