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Decreased circulating carboxypeptidase N activity

MedGen UID:
1054007
•Concept ID:
CN377392
•
Finding
HPO: HP:6000560

Definition

Activity of the enzyme Carboxypeptidase N (arginine carboxypeptidase, EC 3.4.17.3) in the blood circulation below the lower limit of normal. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDecreased circulating carboxypeptidase N activity

Conditions with this feature

Anaphylotoxin inactivator deficiency
MedGen UID:
98312
•Concept ID:
C0398782
•
Disease or Syndrome
Carboxypeptidase-N deficiency (CPND) is an autosomal recessive disorder characterized by episodic angioedema, acute or chronic urticaria, asthma, and/or allergic hypersensitivities such as hay fever. Homozygous individuals as well as their heterozygous family members have levels of carboxypeptidase N that are below the reference range, and heterozygotes are symptomatic, albeit to a generally milder degree (Mathews et al., 1980; Vincent et al., 2024).
See: Condition Record
Anaphylotoxin inactivator deficiency

Recent clinical studies

Etiology

Levels of thrombin activatable fibrinolysis inhibitor in gestational diabetes mellitus.
Gumus II, Kargili A, Karakurt F, Kasapoglu B, Derbent A, Kaygusuz I, Koca C, Sevgili S
Gynecol Endocrinol 2013 Apr;29(4):327-30. Epub 2013 Jan 18 doi: 10.3109/09513590.2010.501884. PMID: 23327722
Metallopeptidase activities in hereditary angioedema: effect of androgen prophylaxis on plasma aminopeptidase P.
Drouet C, Désormeaux A, Robillard J, Ponard D, Bouillet L, Martin L, Kanny G, Moneret-Vautrin DA, Bosson JL, Quesada JL, López-Trascasa M, Adam A
J Allergy Clin Immunol 2008 Feb;121(2):429-33. Epub 2007 Dec 26 doi: 10.1016/j.jaci.2007.10.048. PMID: 18158172Free PMC Article

Diagnosis

A functional assay for measuring activated thrombin-activatable fibrinolysis inhibitor in plasma.
Neill EK, Stewart RJ, Schneider MM, Nesheim ME
Anal Biochem 2004 Jul 15;330(2):332-41. doi: 10.1016/j.ab.2004.04.007. PMID: 15203340

Therapy

Plasma-Based Proteomics Profiling of Patients with Hyperthyroidism after Antithyroid Treatment.
Masood A, Benabdelkamel H, Ekhzaimy AA, Alfadda AA
Molecules 2020 Jun 19;25(12) doi: 10.3390/molecules25122831. PMID: 32575434Free PMC Article
Metallopeptidase activities in hereditary angioedema: effect of androgen prophylaxis on plasma aminopeptidase P.
Drouet C, Désormeaux A, Robillard J, Ponard D, Bouillet L, Martin L, Kanny G, Moneret-Vautrin DA, Bosson JL, Quesada JL, López-Trascasa M, Adam A
J Allergy Clin Immunol 2008 Feb;121(2):429-33. Epub 2007 Dec 26 doi: 10.1016/j.jaci.2007.10.048. PMID: 18158172Free PMC Article
Evidence for the promoting role of the intra-uterine kinin release in the development of late hypertonic saline-induced abortion.
Makevnina LG, Nikonov AP, Goncharova VN, Morozova MS, Paskhina TS
Immunopharmacology 1996 Jun;33(1-3):133-6. doi: 10.1016/0162-3109(96)00023-9. PMID: 8856132

Prognosis

Levels of thrombin activatable fibrinolysis inhibitor in gestational diabetes mellitus.
Gumus II, Kargili A, Karakurt F, Kasapoglu B, Derbent A, Kaygusuz I, Koca C, Sevgili S
Gynecol Endocrinol 2013 Apr;29(4):327-30. Epub 2013 Jan 18 doi: 10.3109/09513590.2010.501884. PMID: 23327722

Clinical prediction guides

Levels of thrombin activatable fibrinolysis inhibitor in gestational diabetes mellitus.
Gumus II, Kargili A, Karakurt F, Kasapoglu B, Derbent A, Kaygusuz I, Koca C, Sevgili S
Gynecol Endocrinol 2013 Apr;29(4):327-30. Epub 2013 Jan 18 doi: 10.3109/09513590.2010.501884. PMID: 23327722
Evidence for the promoting role of the intra-uterine kinin release in the development of late hypertonic saline-induced abortion.
Makevnina LG, Nikonov AP, Goncharova VN, Morozova MS, Paskhina TS
Immunopharmacology 1996 Jun;33(1-3):133-6. doi: 10.1016/0162-3109(96)00023-9. PMID: 8856132
Altered concentrations of terminal complement complexes, anaphylatoxins, and leukotrienes in the coronary sinus during cardiopulmonary bypass.
Bengtson A, Millocco I, Heideman M, Berggren H
J Cardiothorac Anesth 1989 Jun;3(3):305-10. doi: 10.1016/0888-6296(89)90113-0. PMID: 2520655

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