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Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency(CNSHA8)

MedGen UID:
341470
Concept ID:
C1849507
Disease or Syndrome
Synonyms: CNSHA8; HEMOLYTIC ANEMIA DUE TO P5N DEFICIENCY; HEMOLYTIC ANEMIA DUE TO UMPH1 DEFICIENCY; P5N DEFICIENCY; PYRIMIDINE 5-PRIME NUCLEOTIDASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO; UMPH1 DEFICIENCY; Uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to
Modes of inheritance:
 
NT5C3A (7p14.3)
 
Monarch Initiative: MONDO:0009946
OMIM®: 266120
Orphanet: ORPHA35120

Definition

A deficiency of pyrimidine 5-prime nucleotidase (P5N), also called uridine 5-prime monophosphate hydrolase (UMPH1), causes congenital nonspherocytic hemolytic anemia-8 (CNSHA8), which is characterized by marked basophilic stippling and the accumulation of high concentrations of pyrimidine nucleotides within the erythrocyte. The enzyme is implicated in the anemia of lead poisoning and is possibly associated with learning difficulties. Hirono et al. (1988) suggested that this deficiency is the third most common RBC enzymopathy--after G6PD (300908) and pyruvate kinase (see 266200) deficiencies--causing hemolysis (summary by Marinaki et al., 2001). [from OMIM]

Clinical features

From HPO

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHemolytic anemia due to pyrimidine 5' nucleotidase deficiency

Recent clinical studies

Etiology

Fattizzo B, Giannotta JA, Cecchi N, Barcellini W
Orphanet J Rare Dis 2021 Oct 9;16(1):415. doi: 10.1186/s13023-021-02036-4. PMID: 34627331Free PMC Article
Warang P, Kedar P, Ghosh K, Colah R
Int J Lab Hematol 2012 Jun;34(3):232-6. Epub 2011 Nov 14 doi: 10.1111/j.1751-553X.2011.01381.x. PMID: 22078096
Bitto E, Bingman CA, Wesenberg GE, McCoy JG, Phillips GN Jr
J Biol Chem 2006 Jul 21;281(29):20521-9. Epub 2006 May 3 doi: 10.1074/jbc.M602000200. PMID: 16672222
Bianchi P, Fermo E, Alfinito F, Vercellati C, Baserga M, Ferraro F, Guzzo I, Rotoli B, Zanella A
Br J Haematol 2003 Sep;122(5):847-51. doi: 10.1046/j.1365-2141.2003.04532.x. PMID: 12930399
Zanella A, Colombo MB, Rossi F, Merati G, Sirchia G
Haematologica 1989 Jul-Aug;74(4):387-96. PMID: 2551797

Diagnosis

Fattizzo B, Giannotta JA, Cecchi N, Barcellini W
Orphanet J Rare Dis 2021 Oct 9;16(1):415. doi: 10.1186/s13023-021-02036-4. PMID: 34627331Free PMC Article
Barasa BA, van Oirschot BA, Bianchi P, van Solinge WW, Heck AJ, van Wijk R, Slijper M
Proteomics Clin Appl 2016 Aug;10(8):859-69. doi: 10.1002/prca.201500130. PMID: 27381654
Al-Jafar HA, Layton DM, Robertson L, Escuredo E, Bain BJ
Am J Hematol 2013 Dec;88(12):1089. Epub 2013 Aug 30 doi: 10.1002/ajh.23556. PMID: 23897698
Zanella A, Bianchi P, Fermo E, Valentini G
Br J Haematol 2006 Apr;133(2):113-23. doi: 10.1111/j.1365-2141.2006.05992.x. PMID: 16611302
Vives i Corrons JL
Baillieres Best Pract Res Clin Haematol 2000 Mar;13(1):103-18. doi: 10.1053/beha.1999.0060. PMID: 10916681

Therapy

Al-Jafar HA, Taqi A, Madda JP, Abdullah TA
BMJ Case Rep 2013 Nov 28;2013 doi: 10.1136/bcr-2013-201061. PMID: 24287477Free PMC Article
Kim Y, Yoo CI, Lee CR, Lee JH, Lee H, Kim SR, Chang SH, Lee WJ, Hwang CH, Lee YH
Ind Health 2002 Jan;40(1):23-7. doi: 10.2486/indhealth.40.23. PMID: 11926511
Laurence A, Duley JA, Simmonds HA, Layton M, Rose SJ, Kelly SJ
Adv Exp Med Biol 1998;431:155-9. doi: 10.1007/978-1-4615-5381-6_30. PMID: 9598050
Aly MH, Kim HC, Renner SW, Boyarsky A, Kosmin M, Paglia DE
Am J Hematol 1993 Dec;44(4):280-3. doi: 10.1002/ajh.2830440412. PMID: 8238001

Prognosis

Fattizzo B, Giannotta JA, Cecchi N, Barcellini W
Orphanet J Rare Dis 2021 Oct 9;16(1):415. doi: 10.1186/s13023-021-02036-4. PMID: 34627331Free PMC Article
Chiarelli LR, Bianchi P, Fermo E, Galizzi A, Iadarola P, Mattevi A, Zanella A, Valentini G
Blood 2005 Apr 15;105(8):3340-5. Epub 2004 Dec 16 doi: 10.1182/blood-2004-10-3895. PMID: 15604219
Rees DC, Styles L, Vichinsky EP, Clegg JB, Weatherall DJ
Ann N Y Acad Sci 1998 Jun 30;850:334-43. doi: 10.1111/j.1749-6632.1998.tb10490.x. PMID: 9668555

Clinical prediction guides

Bogusławska DM, Skulski M, Bartoszewski R, Machnicka B, Heger E, Kuliczkowski K, Sikorski AF
Cell Mol Biol Lett 2022 Nov 24;27(1):104. doi: 10.1186/s11658-022-00405-w. PMID: 36434495Free PMC Article
Bianchi P, Fermo E, Alfinito F, Vercellati C, Baserga M, Ferraro F, Guzzo I, Rotoli B, Zanella A
Br J Haematol 2003 Sep;122(5):847-51. doi: 10.1046/j.1365-2141.2003.04532.x. PMID: 12930399
Vives i Corrons JL
Baillieres Best Pract Res Clin Haematol 2000 Mar;13(1):103-18. doi: 10.1053/beha.1999.0060. PMID: 10916681
Hokari S, Miyazaki T, Hasegawa M, Komoda T
Biol Chem 1998 Mar;379(3):329-33. doi: 10.1515/bchm.1998.379.3.329. PMID: 9563829
Matsumoto N, Adachi H, Miwa S, Takahashi M, Kamei T, Ishida Y, Kibe A
Nihon Ketsueki Gakkai Zasshi 1982 Feb;45(1):17-25. PMID: 6287787

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