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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
An autosomal recessive condition caused by mutation(s) in the CPN1 gene, encoding carboxypeptidase N catalytic chain. It may be characterized by episodic angioedema, chronic urticaria, asthma and/or allergic hypersensitivity.

Recent clinical studies

Etiology

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
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

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

Masood A, Benabdelkamel H, Ekhzaimy AA, Alfadda AA
Molecules 2020 Jun 19;25(12) doi: 10.3390/molecules25122831. PMID: 32575434Free PMC Article
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
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

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

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
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
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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