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Carbonic anhydrase I deficiency

MedGen UID:
864369
Concept ID:
C4015932
Finding
Synonym: CARBONIC ANHYDRASE I DEFICIENCY
 
OMIM®: 114800

Definition

Decreased or absent activity of the enzyme carbonic anhydrase 1, due to loss-of-function mutation(s) in the gene CA1. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCarbonic anhydrase I deficiency

Recent clinical studies

Etiology

Menteşe A, Erkut N, Sümer A, Us Altay D, Alver A, Sönmez M
Hematology 2015 Jul;20(6):363-7. Epub 2014 Oct 6 doi: 10.1179/1607845414Y.0000000204. PMID: 25283602
Ilies M, Banciu MD, Ilies MA, Scozzafava A, Caproiu MT, Supuran CT
J Med Chem 2002 Jan 17;45(2):504-10. doi: 10.1021/jm011031n. PMID: 11784154
Scozzafava A, Supuran CT
J Med Chem 2002 Jan 17;45(2):284-91. doi: 10.1021/jm010958k. PMID: 11784133

Diagnosis

Menteşe A, Erkut N, Sümer A, Us Altay D, Alver A, Sönmez M
Hematology 2015 Jul;20(6):363-7. Epub 2014 Oct 6 doi: 10.1179/1607845414Y.0000000204. PMID: 25283602
Ilies M, Banciu MD, Ilies MA, Scozzafava A, Caproiu MT, Supuran CT
J Med Chem 2002 Jan 17;45(2):504-10. doi: 10.1021/jm011031n. PMID: 11784154
Scozzafava A, Supuran CT
J Med Chem 2002 Jan 17;45(2):284-91. doi: 10.1021/jm010958k. PMID: 11784133

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