9 Matching Annotations
  1. Sep 2019
    1. I 1

      CaseI1-2: Case I1 is the asymptomatic paternal grandfather of proband 2 in family 2. The heterozygous Thr295Ile substitution was found in this individual.

      CasePresentingHPOs: HP:0005543, (Reduced protein C activity)

      HPOsFreeText: Protein C activity was reduced: Normal range = 70-140% (actual = 39%). Patient also had reduced protein C antigen: Normal range = 70-130% (Actual=36%).

      CaseNotHPOs:

      NotHPOsFreeText:

      CaseAddInfo: This individual was asymptomatic.

      CasePMIDs:

    2. grandmother (I3) of Proband 2

      CaseI3-2: Case I3 is the asymptomatic grandmother of proband 2 in family 2. The heterozygous Leu-34Pro substitution was found in this individual.

      CasePresentingHPOs: HP:0005543, (Reduced protein C activity)

      HPOsFreeText: Protein C activity was reduced: Normal range = 70-140% (actual = 48%). Patient also had reduced protein C antigen: Normal range = 70-130% (Actual=36%).

      CaseNotHPOs:

      NotHPOsFreeText:

      CaseAddInfo: This individual was asymptomatic.

      CasePMIDs:

    3. asymptomaticmother (II4

      CaseII4-2: Case II4 is the asymptomatic mother of proband 2 in family 2. The heterozygous Leu-34Pro substitution was found in this individual.

      CasePresentingHPOs: HP:0005543, (Reduced protein C activity)

      HPOsFreeText: Protein C activity was reduced: Normal range = 70-140% (actual = 55%). Patient also had reduced protein C antigen: Normal range = 70-130% (Actual=34%).

      CaseNotHPOs:

      NotHPOsFreeText:

      CaseAddInfo: This individual was asymptomatic.

      CasePMIDs:

    4. paternal relatives II2

      CaseII2-2: Case II2 is the asymptomatic paternal uncle of proband 2 in family 2. The Thr295Ile substitution was found in this individual.

      CasePresentingHPOs: HP:0005543, (Reduced protein C activity)

      HPOsFreeText: Protein C activity was reduced: Normal range = 70-140% (actual = 44%). Patient also had reduced protein C antigen: Normal range = 70-130% (Actual=33%).

      CaseNotHPOs:

      NotHPOsFreeText:

      CaseAddInfo: This individual was completely asymptomatic.

      CasePMIDs:

    5. he asymptomatic fatherof Proband 2 (II3)

      CaseII3-2: Case II3 is the clinically asymptomatic father of proband 2 in family 2. The Thr295Ile substitution was found in this individual.

      CasePresentingHPOs: HP:0005543, (Reduced protein C activity)

      HPOsFreeText: Protein C activity was reduced: Normal range = 70-140% (actual = 43%). Patient also had reduced protein C antigen: Normal range = 70-130% (Actual=34%).

      CaseNotHPOs:

      NotHPOsFreeText:

      CaseAddInfo: This individual was completely asymptomatic.

      CasePMIDs:

    6. Proband 2

      CaseIII1-2: Proband 2 (Case III 1 family 2) was a 19 year old male diagnosed with deep vein thrombosis in both legs since the age of 16. The family of this individual was asymptomatic with respect to thrombolytic disease and was non-consanguineous.

      CasePresentingHPOs: HP:0002625, HP:0005543, HP:0004936, (Deep venous thrombosis), (Protein C deficiency), (Venous thrombosis),

      HPOsFreeText: Deep vein thrombosis was in both legs since age of 16. This patient also had low protein C antigen.

      CaseNotHPOs:

      NotHPOsFreeText:

      CaseAddInfo: This Case (Case III1-2) was designated as Proband 2.

      CasePMIDs:

    7. the father (I1) of Proband 1

      CaseI1-1: Case I1-1 is a 54 year-old male from Family 1. This individual has a heterozygous Asp255His mutation and is the father of the proband (II1-1). This individual was asymptomatic and lab results were within normal ranges.

      CasePresentingHPOs:

      HPOsFreeText:

      CaseNotHPOs:

      NotHPOsFreeText: Patient was completely asymptomatic.

      CaseAddInfo:

      CasePMIDs:

    8. Proband 1

      CaseIII1-1: Proband 1 (Case II1 Family 1) was a 28 year male admitted to the medical facility for deep vein thrombosis (DVT) and mesenteric vein thrombosis. This patient had a history of DVT and pulmonary embolism before admission. The mutation was compound heterozygous.

      CasePresentingHPOs: HP:0030780, HP:0002625, HP:0002204, HP:0005543, HP:0004936, (Abnormality of the protein C anticoagulant pathway), (Deep venous thrombosis), (Pulmonary embolism), (Reduced protein C activity), (Venous thrombosis),

      HPOsFreeText: Patient had mesenteric vein thrombosis (no HPO# found). The patient also had reduced protein C antigen.

      CaseNotHPOs:

      NotHPOsFreeText:

      CaseAddInfo: This case (II1 family 1) is designated as proband 1. Proband 1 was also given heparin and warfarin (together) in an attempt to control clotting. Doses for this treatment regimen were not included. All other members of the family were asymptomatic with respect to thrombolytic disease and non-consanguineous. CasePMIDs:

    9. Hereditary protein C deficiency caused by compound heterozygousmutants in two independent Chinese families

      PMID: 25393254

      Gene: PROC

      Disease: Thrombophilia due to protein C deficiency

      MonDO: 0012860

      InheritancePattern: Autosomal Recessive