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Inosine triphosphatase deficiency

MedGen UID:
452450
•Concept ID:
C0342800
•
Disease or Syndrome
Synonym: INOSINE TRIPHOSPHATE PYROPHOSPHOHYDROLASE DEFICIENCY
SNOMED CT: Inosine triphosphate pyrophosphohydrolase deficiency (238011005); ITPase - Inosine triphosphatase deficiency (238011005)
 
Gene (location): ITPA (20p13)
 
Monarch Initiative: MONDO:0013461
OMIM®: 613850
Orphanet: ORPHA319684

Definition

Inosine triphosphate pyrophosphohydrolase (ITPase) deficiency is a common inherited condition characterized by the abnormal accumulation of inosine triphosphate (ITP) in erythrocytes (Sumi et al., 2002). [from OMIM]

Clinical features

From HPO
Elevated erythrocyte inosine triphosphate concentration
MedGen UID:
1053797
•Concept ID:
CN377341
•
Finding
Concentration of inosine triphosphate in red blood cells is above the upper limit of normal.
See: Feature record | Search on this feature
Reduced erythrocyte inosine triphosphatase activity
MedGen UID:
1052363
•Concept ID:
CN377342
•
Finding
Activity or concentration of inosine triphosphate pyrophosphohydrolase (EC 3.6.1.19) in red blood cells below the lower limit of normal.
See: Feature record | Search on this feature
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Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVInosine triphosphatase deficiency

Professional guidelines

PubMed

Inosine triphosphatase deficiency helps predict anaemia, anaemia management and response in chronic hepatitis C therapy.
Clark PJ, Aghemo A, Degasperi E, Galmozzi E, Urban TJ, Vock DM, Patel K, Thompson AJ, Rumi MG, D'Ambrosio R, Muir AJ, Colombo M
J Viral Hepat 2013 Dec;20(12):858-66. Epub 2013 Jun 24 doi: 10.1111/jvh.12113. PMID: 24304455

Recent clinical studies

Etiology

ITPA deficiency and ribavirin level are still predictive of anaemia in HCV-HIV-coinfected patients receiving ribavirin combined with a first-generation DAA (ANRS HC27 study).
Kheloufi F, Poizot-Martin I, Garraffo R, Tavenard A, Quaranta S, Renault A, Lavrut T, Bourlière M, Halfon P, Piroth L, Bellissant E, Lacarelle B, Molina JM, Solas C; ANRS HC27 BOCEPREVIH Study Group
Antivir Ther 2017;22(6):461-469. Epub 2016 Sep 1 doi: 10.3851/IMP3074. PMID: 27583701
Inosine triphosphatase deficiency helps predict anaemia, anaemia management and response in chronic hepatitis C therapy.
Clark PJ, Aghemo A, Degasperi E, Galmozzi E, Urban TJ, Vock DM, Patel K, Thompson AJ, Rumi MG, D'Ambrosio R, Muir AJ, Colombo M
J Viral Hepat 2013 Dec;20(12):858-66. Epub 2013 Jun 24 doi: 10.1111/jvh.12113. PMID: 24304455
ITPA gene variants protect against anaemia in patients treated for chronic hepatitis C.
Fellay J, Thompson AJ, Ge D, Gumbs CE, Urban TJ, Shianna KV, Little LD, Qiu P, Bertelsen AH, Watson M, Warner A, Muir AJ, Brass C, Albrecht J, Sulkowski M, McHutchison JG, Goldstein DB
Nature 2010 Mar 18;464(7287):405-8. Epub 2010 Feb 21 doi: 10.1038/nature08825. PMID: 20173735
Crystal structure of human inosine triphosphatase. Substrate binding and implication of the inosine triphosphatase deficiency mutation P32T.
Stenmark P, Kursula P, Flodin S, Gräslund S, Landry R, Nordlund P, Schüler H
J Biol Chem 2007 Feb 2;282(5):3182-7. Epub 2006 Nov 29 doi: 10.1074/jbc.M609838200. PMID: 17138556
DNA polymorphisms in ITPA including basis of inosine triphosphatase deficiency.
Cao H, Hegele RA
J Hum Genet 2002;47(11):620-2. doi: 10.1007/s100380200095. PMID: 12436200

Diagnosis

ITPA deficiency and ribavirin level are still predictive of anaemia in HCV-HIV-coinfected patients receiving ribavirin combined with a first-generation DAA (ANRS HC27 study).
Kheloufi F, Poizot-Martin I, Garraffo R, Tavenard A, Quaranta S, Renault A, Lavrut T, Bourlière M, Halfon P, Piroth L, Bellissant E, Lacarelle B, Molina JM, Solas C; ANRS HC27 BOCEPREVIH Study Group
Antivir Ther 2017;22(6):461-469. Epub 2016 Sep 1 doi: 10.3851/IMP3074. PMID: 27583701
Inosine triphosphatase deficiency helps predict anaemia, anaemia management and response in chronic hepatitis C therapy.
Clark PJ, Aghemo A, Degasperi E, Galmozzi E, Urban TJ, Vock DM, Patel K, Thompson AJ, Rumi MG, D'Ambrosio R, Muir AJ, Colombo M
J Viral Hepat 2013 Dec;20(12):858-66. Epub 2013 Jun 24 doi: 10.1111/jvh.12113. PMID: 24304455

Therapy

ITPA deficiency and ribavirin level are still predictive of anaemia in HCV-HIV-coinfected patients receiving ribavirin combined with a first-generation DAA (ANRS HC27 study).
Kheloufi F, Poizot-Martin I, Garraffo R, Tavenard A, Quaranta S, Renault A, Lavrut T, Bourlière M, Halfon P, Piroth L, Bellissant E, Lacarelle B, Molina JM, Solas C; ANRS HC27 BOCEPREVIH Study Group
Antivir Ther 2017;22(6):461-469. Epub 2016 Sep 1 doi: 10.3851/IMP3074. PMID: 27583701
Relationship between ITPA polymorphisms and hemolytic anemia in HCV-infected patients after ribavirin-based therapy: a meta-analysis.
Pineda-Tenor D, García-Álvarez M, Jiménez-Sousa MA, Vázquez-Morón S, Resino S
J Transl Med 2015 Oct 6;13:320. doi: 10.1186/s12967-015-0682-y. PMID: 26438033Free PMC Article
Inosine triphosphatase deficiency helps predict anaemia, anaemia management and response in chronic hepatitis C therapy.
Clark PJ, Aghemo A, Degasperi E, Galmozzi E, Urban TJ, Vock DM, Patel K, Thompson AJ, Rumi MG, D'Ambrosio R, Muir AJ, Colombo M
J Viral Hepat 2013 Dec;20(12):858-66. Epub 2013 Jun 24 doi: 10.1111/jvh.12113. PMID: 24304455
ITPA gene variants protect against anaemia in patients treated for chronic hepatitis C.
Fellay J, Thompson AJ, Ge D, Gumbs CE, Urban TJ, Shianna KV, Little LD, Qiu P, Bertelsen AH, Watson M, Warner A, Muir AJ, Brass C, Albrecht J, Sulkowski M, McHutchison JG, Goldstein DB
Nature 2010 Mar 18;464(7287):405-8. Epub 2010 Feb 21 doi: 10.1038/nature08825. PMID: 20173735

Prognosis

ITPA deficiency and ribavirin level are still predictive of anaemia in HCV-HIV-coinfected patients receiving ribavirin combined with a first-generation DAA (ANRS HC27 study).
Kheloufi F, Poizot-Martin I, Garraffo R, Tavenard A, Quaranta S, Renault A, Lavrut T, Bourlière M, Halfon P, Piroth L, Bellissant E, Lacarelle B, Molina JM, Solas C; ANRS HC27 BOCEPREVIH Study Group
Antivir Ther 2017;22(6):461-469. Epub 2016 Sep 1 doi: 10.3851/IMP3074. PMID: 27583701
Inosine triphosphatase deficiency helps predict anaemia, anaemia management and response in chronic hepatitis C therapy.
Clark PJ, Aghemo A, Degasperi E, Galmozzi E, Urban TJ, Vock DM, Patel K, Thompson AJ, Rumi MG, D'Ambrosio R, Muir AJ, Colombo M
J Viral Hepat 2013 Dec;20(12):858-66. Epub 2013 Jun 24 doi: 10.1111/jvh.12113. PMID: 24304455
Crystal structure of human inosine triphosphatase. Substrate binding and implication of the inosine triphosphatase deficiency mutation P32T.
Stenmark P, Kursula P, Flodin S, Gräslund S, Landry R, Nordlund P, Schüler H
J Biol Chem 2007 Feb 2;282(5):3182-7. Epub 2006 Nov 29 doi: 10.1074/jbc.M609838200. PMID: 17138556
DNA polymorphisms in ITPA including basis of inosine triphosphatase deficiency.
Cao H, Hegele RA
J Hum Genet 2002;47(11):620-2. doi: 10.1007/s100380200095. PMID: 12436200

Clinical prediction guides

Disease-associated inosine misincorporation into RNA hinders translation.
Schroader JH, Jones LA, Meng R, Shorrock HK, Richardson JI, Shaughnessy SM, Lin Q, Begley TJ, Berglund JA, Fuchs G, Handley MT, Reddy K
Nucleic Acids Res 2022 Sep 9;50(16):9306-9318. doi: 10.1093/nar/gkac709. PMID: 35979951Free PMC Article
ITPA deficiency and ribavirin level are still predictive of anaemia in HCV-HIV-coinfected patients receiving ribavirin combined with a first-generation DAA (ANRS HC27 study).
Kheloufi F, Poizot-Martin I, Garraffo R, Tavenard A, Quaranta S, Renault A, Lavrut T, Bourlière M, Halfon P, Piroth L, Bellissant E, Lacarelle B, Molina JM, Solas C; ANRS HC27 BOCEPREVIH Study Group
Antivir Ther 2017;22(6):461-469. Epub 2016 Sep 1 doi: 10.3851/IMP3074. PMID: 27583701
A disease spectrum for ITPA variation: advances in biochemical and clinical research.
Burgis NE
J Biomed Sci 2016 Oct 22;23(1):73. doi: 10.1186/s12929-016-0291-y. PMID: 27770805Free PMC Article
Inosine triphosphatase deficiency helps predict anaemia, anaemia management and response in chronic hepatitis C therapy.
Clark PJ, Aghemo A, Degasperi E, Galmozzi E, Urban TJ, Vock DM, Patel K, Thompson AJ, Rumi MG, D'Ambrosio R, Muir AJ, Colombo M
J Viral Hepat 2013 Dec;20(12):858-66. Epub 2013 Jun 24 doi: 10.1111/jvh.12113. PMID: 24304455
Crystal structure of human inosine triphosphatase. Substrate binding and implication of the inosine triphosphatase deficiency mutation P32T.
Stenmark P, Kursula P, Flodin S, Gräslund S, Landry R, Nordlund P, Schüler H
J Biol Chem 2007 Feb 2;282(5):3182-7. Epub 2006 Nov 29 doi: 10.1074/jbc.M609838200. PMID: 17138556

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