U.S. flag

An official website of the United States government

We are planning the future of MedGen. Fill out this survey or email us at medgen_help@ncbi.nlm.nih.gov to tell us how it can work better for you.

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

Supplemental Content

Table of contents

    Clinical resources

    Consumer resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...
    External link. Please review our privacy policy.