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Hereditary thrombophilia due to congenital protein C deficiency

MedGen UID:
671121
•Concept ID:
C0598221
•
Disease or Syndrome
Synonyms: Autosomal recessive thrombophilia due to congenital protein C deficiency; autosomal recessive thrombophilia due to congenital protein C deficiency; Autosomal recessive thrombophilia due to PC deficiency; autosomal recessive thrombophilia due to PC deficiency; Hereditary protein C deficiency; hereditary thrombophilia due to congenital protein C deficiency; hereditary thrombophilia due to PC deficiency; Protein C deficiency; protein C deficiency; Protein C Deficiency; Protein C deficiency disease; severe hereditary thrombophilia due to congenital protein C deficiency; Severe hereditary thrombophilia due to congenital protein C deficiency
SNOMED CT: Hereditary protein C deficiency (439274008)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal dominant inheritance
MedGen UID:
141047
•Concept ID:
C0443147
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal recessive inheritance (Orphanet)
Autosomal dominant inheritance (Orphanet)
 
Monarch Initiative: MONDO:0019145
Orphanet: ORPHA745

Definition

Congenital protein C deficiency is an inherited coagulation disorder characterized by deep venous thrombosis symptoms due to reduced synthesis and/or activity levels of protein C. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHereditary thrombophilia due to congenital protein C deficiency

Professional guidelines

PubMed

Prospective assessment of risk factors for recurrent stroke during childhood--a 5-year follow-up study.
Sträter R, Becker S, von Eckardstein A, Heinecke A, Gutsche S, Junker R, Kurnik K, Schobess R, Nowak-Göttl U
Lancet 2002 Nov 16;360(9345):1540-5. doi: 10.1016/S0140-6736(02)11520-0. PMID: 12443591

Recent clinical studies

Etiology

Direct Oral Anticoagulants in Select Patients With Hypercoagulable Disorders.
Valanejad SM, Davis KA
Ann Pharmacother 2021 Jul;55(7):891-901. Epub 2020 Oct 26 doi: 10.1177/1060028020968551. PMID: 33100017
Protein C deficiency as the major cause of thrombophilias in childhood.
Ohga S, Ishiguro A, Takahashi Y, Shima M, Taki M, Kaneko M, Fukushima K, Kang D, Hara T; Japan Childhood Thrombophilia Study Group
Pediatr Int 2013 Jun;55(3):267-71. doi: 10.1111/ped.12102. PMID: 23521084
Human protein C concentrates for replacement therapy in congenital and acquired protein C deficiency.
Knoebl PN
Drugs Today (Barc) 2008 Jun;44(6):429-41. doi: 10.1358/dot.2008.44.6.1217993. PMID: 18596997
Thrombophilia and venous thromboembolism: implications for testing.
Cohn DM, Roshani S, Middeldorp S
Semin Thromb Hemost 2007 Sep;33(6):573-81. doi: 10.1055/s-2007-985753. PMID: 17768689
Pregnancy-associated thrombosis.
Pabinger I, Grafenhofer H
Wien Klin Wochenschr 2003 Aug 14;115(13-14):482-4. doi: 10.1007/BF03041032. PMID: 13677267

Diagnosis

Congenital heterozygous protein C deficiency with portal vein thrombosis.
Hirose F, Sekinaka Y, Matsumoto S, Imai K, Ohga S, Nonoyama S, Kawaguchi H
Pediatr Int 2023 Jan-Dec;65(1):e15627. doi: 10.1111/ped.15627. PMID: 37705371
Isolated Protein C Deficiency in a Newborn.
Bencharef H, Hidki F, Lahmoudi A, Pongo C, Chemsi M, Lehlimi M, Habzi A, Benomar S, Oukkache B
Clin Lab 2023 May 1;69(5) doi: 10.7754/Clin.Lab.2020.200515. PMID: 37145086
Protein C deficiency as the major cause of thrombophilias in childhood.
Ohga S, Ishiguro A, Takahashi Y, Shima M, Taki M, Kaneko M, Fukushima K, Kang D, Hara T; Japan Childhood Thrombophilia Study Group
Pediatr Int 2013 Jun;55(3):267-71. doi: 10.1111/ped.12102. PMID: 23521084
Pregnancy-associated thrombosis.
Pabinger I, Grafenhofer H
Wien Klin Wochenschr 2003 Aug 14;115(13-14):482-4. doi: 10.1007/BF03041032. PMID: 13677267
Laboratory diagnosis of hereditary thrombophilia.
Michiels JJ, Hamulyák K
Semin Thromb Hemost 1998;24(4):309-20. doi: 10.1055/s-2007-996019. PMID: 9763348

Therapy

Direct Oral Anticoagulants in Select Patients With Hypercoagulable Disorders.
Valanejad SM, Davis KA
Ann Pharmacother 2021 Jul;55(7):891-901. Epub 2020 Oct 26 doi: 10.1177/1060028020968551. PMID: 33100017
Protein C deficiency as the major cause of thrombophilias in childhood.
Ohga S, Ishiguro A, Takahashi Y, Shima M, Taki M, Kaneko M, Fukushima K, Kang D, Hara T; Japan Childhood Thrombophilia Study Group
Pediatr Int 2013 Jun;55(3):267-71. doi: 10.1111/ped.12102. PMID: 23521084
Human protein C concentrates for replacement therapy in congenital and acquired protein C deficiency.
Knoebl PN
Drugs Today (Barc) 2008 Jun;44(6):429-41. doi: 10.1358/dot.2008.44.6.1217993. PMID: 18596997
Pregnancy-associated thrombosis.
Pabinger I, Grafenhofer H
Wien Klin Wochenschr 2003 Aug 14;115(13-14):482-4. doi: 10.1007/BF03041032. PMID: 13677267
Laboratory diagnosis of hereditary thrombophilia.
Michiels JJ, Hamulyák K
Semin Thromb Hemost 1998;24(4):309-20. doi: 10.1055/s-2007-996019. PMID: 9763348

Prognosis

Analysis of PROC mutations and clinical features in 22 unrelated families with inherited protein C deficiency.
Xu F, Zhang K, Xu Q, Ye L, Zeng M, Jin Y, Wang M, Yang L
Ann Hematol 2024 Feb;103(2):645-652. Epub 2023 Nov 10 doi: 10.1007/s00277-023-05487-w. PMID: 37950050
Isolated Protein C Deficiency in a Newborn.
Bencharef H, Hidki F, Lahmoudi A, Pongo C, Chemsi M, Lehlimi M, Habzi A, Benomar S, Oukkache B
Clin Lab 2023 May 1;69(5) doi: 10.7754/Clin.Lab.2020.200515. PMID: 37145086
Fetal hydrocephalus and neonatal stroke as the first presentation of protein C deficiency.
Ichiyama M, Ohga S, Ochiai M, Fukushima K, Ishimura M, Torio M, Urata M, Hotta T, Kang D, Hara T
Brain Dev 2016 Feb;38(2):253-6. Epub 2015 Aug 4 doi: 10.1016/j.braindev.2015.07.004. PMID: 26250584
Role of thrombophilia factors in acute systemic-pulmonary shunt obstruction.
Ergul Y, Kiplapinar N, Tanidir IC, Ozturk E, Guzeltas A, Haydin S, Akcay A, Erek E, Yeniterzi M, Odemis E, Bakir I
Pediatr Int 2015 Dec;57(6):1072-7. Epub 2015 Nov 10 doi: 10.1111/ped.12727. PMID: 26096312
Incidence and clinical characteristics of hereditary disorders associated with venous thrombosis.
Tabernero MD, Tomas JF, Alberca I, Orfao A, Lopez Borrasca A, Vicente V
Am J Hematol 1991 Apr;36(4):249-54. doi: 10.1002/ajh.2830360405. PMID: 1826407

Clinical prediction guides

Isolated Protein C Deficiency in a Newborn.
Bencharef H, Hidki F, Lahmoudi A, Pongo C, Chemsi M, Lehlimi M, Habzi A, Benomar S, Oukkache B
Clin Lab 2023 May 1;69(5) doi: 10.7754/Clin.Lab.2020.200515. PMID: 37145086
A protein C and plasminogen compound heterozygous mutation and a compound heterozygote of protein C in two related Chinese families.
Cheng X, Wang M, Jiang M, Bhugul PA, Hao X, Yang L
Blood Coagul Fibrinolysis 2016 Oct;27(7):838-844. doi: 10.1097/MBC.0000000000000579. PMID: 27314862
Human protein C concentrates for replacement therapy in congenital and acquired protein C deficiency.
Knoebl PN
Drugs Today (Barc) 2008 Jun;44(6):429-41. doi: 10.1358/dot.2008.44.6.1217993. PMID: 18596997
Studies on congenital protein C deficiency in Japanese: prevalence, genetic analysis, and relevance to the onset of arterial occlusive diseases.
Sakata T, Kario K, Katayama Y, Matsuyama T, Kato H, Miyata T
Semin Thromb Hemost 2000;26(1):11-6. doi: 10.1055/s-2000-9796. PMID: 10805275
Incidence and clinical characteristics of hereditary disorders associated with venous thrombosis.
Tabernero MD, Tomas JF, Alberca I, Orfao A, Lopez Borrasca A, Vicente V
Am J Hematol 1991 Apr;36(4):249-54. doi: 10.1002/ajh.2830360405. PMID: 1826407

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