U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Glucose phosphate isomerase deficiency

MedGen UID:
584934
Concept ID:
C0398561
Disease or Syndrome
Synonyms: Glucose Phosphate Isomerase Deficiency; GPI - Glucose phosphate isomerase deficiency
SNOMED CT: Glucose phosphate isomerase deficiency (234404008); GPI - Glucose phosphate isomerase deficiency (234404008)

Definition

A rare, autosomal recessive, inherited disorder caused by mutation of the GPI gene. It is characterized by chronic, non-spherocytic hemolytic anemia. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVGlucose phosphate isomerase deficiency

Professional guidelines

PubMed

Munyanganizi R, Cotton F, Vertongen F, Gulbis B
J Med Screen 2006;13(3):129-31. doi: 10.1258/096914106778440626. PMID: 17007653
Blume KG, Beutler E
Blood 1972 May;39(5):685-7. PMID: 5022716

Recent clinical studies

Etiology

Sampagar A, Gosavi M, Kedar P, Patel T, Dongerdiye R, Mahantashetti N
Int J Hematol 2022 Feb;115(2):255-262. Epub 2021 Oct 27 doi: 10.1007/s12185-021-03240-5. PMID: 34704234
Kedar PS, Dongerdiye R, Chilwirwar P, Gupta V, Chiddarwar A, Devendra R, Warang P, Prasada H, Sampagar A, Bhat S, Chandrakala S, Madkaikar M
Indian J Pediatr 2019 Aug;86(8):692-699. Epub 2019 Apr 27 doi: 10.1007/s12098-019-02928-1. PMID: 31030358
Dallapiccola B, Novelli G, Ferranti G, Pachi A, Cristiani ML, Magnani M
Prenat Diagn 1986 Mar-Apr;6(2):101-7. doi: 10.1002/pd.1970060205. PMID: 3703821

Diagnosis

Holme S, van Wijk R, Rasmussen AØ, Petersen J, Glenthøj A
J Med Case Rep 2024 Mar 28;18(1):130. doi: 10.1186/s13256-024-04466-7. PMID: 38539245Free PMC Article
Wang Y, Liu T, Liu J, Xiang Y, Huang L, Li J, An X, Cui S, Feng Z, Yu J
BMC Med Genomics 2023 Jul 10;16(1):162. doi: 10.1186/s12920-023-01603-x. PMID: 37430284Free PMC Article
Sampagar A, Gosavi M, Kedar P, Patel T, Dongerdiye R, Mahantashetti N
Int J Hematol 2022 Feb;115(2):255-262. Epub 2021 Oct 27 doi: 10.1007/s12185-021-03240-5. PMID: 34704234
Jamwal M, Aggarwal A, Das A, Maitra A, Sharma P, Krishnan S, Arora N, Bansal D, Das R
Clin Chim Acta 2017 May;468:81-84. Epub 2017 Feb 20 doi: 10.1016/j.cca.2017.02.012. PMID: 28223188
Munyanganizi R, Cotton F, Vertongen F, Gulbis B
J Med Screen 2006;13(3):129-31. doi: 10.1258/096914106778440626. PMID: 17007653

Therapy

Schröter W
Eur J Pediatr 1980 Oct;135(1):41-3. doi: 10.1007/BF00445891. PMID: 7449787

Prognosis

Wang Y, Liu T, Liu J, Xiang Y, Huang L, Li J, An X, Cui S, Feng Z, Yu J
BMC Med Genomics 2023 Jul 10;16(1):162. doi: 10.1186/s12920-023-01603-x. PMID: 37430284Free PMC Article
See WQ, So CJ, Cheuk DK, van Wijk R, Ha SY
J Pediatr Hematol Oncol 2020 Oct;42(7):e696-e697. doi: 10.1097/MPH.0000000000001582. PMID: 31415279
Kedar PS, Dongerdiye R, Chilwirwar P, Gupta V, Chiddarwar A, Devendra R, Warang P, Prasada H, Sampagar A, Bhat S, Chandrakala S, Madkaikar M
Indian J Pediatr 2019 Aug;86(8):692-699. Epub 2019 Apr 27 doi: 10.1007/s12098-019-02928-1. PMID: 31030358
Huppke P, Wünsch D, Pekrun A, Kind R, Winkler H, Schröter W, Lakomek M
Eur J Pediatr 1997 Aug;156(8):605-9. doi: 10.1007/s004310050674. PMID: 9266190
Hutton JJ, Chilcote RR
J Pediatr 1974 Oct;85(4):494-7. doi: 10.1016/s0022-3476(74)80451-8. PMID: 4443856

Clinical prediction guides

Wang Y, Liu T, Liu J, Xiang Y, Huang L, Li J, An X, Cui S, Feng Z, Yu J
BMC Med Genomics 2023 Jul 10;16(1):162. doi: 10.1186/s12920-023-01603-x. PMID: 37430284Free PMC Article
Kedar PS, Dongerdiye R, Chilwirwar P, Gupta V, Chiddarwar A, Devendra R, Warang P, Prasada H, Sampagar A, Bhat S, Chandrakala S, Madkaikar M
Indian J Pediatr 2019 Aug;86(8):692-699. Epub 2019 Apr 27 doi: 10.1007/s12098-019-02928-1. PMID: 31030358
Hutton JJ, Chilcote RR
J Pediatr 1974 Oct;85(4):494-7. doi: 10.1016/s0022-3476(74)80451-8. PMID: 4443856

Supplemental Content

Table of contents

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...