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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:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Gene (location): 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
Hemoglobinuria
MedGen UID:
6792
Concept ID:
C0019048
Finding
The presence of free hemoglobin in the urine.
Hemolytic anemia
MedGen UID:
1916
Concept ID:
C0002878
Disease or Syndrome
A type of anemia caused by premature destruction of red blood cells (hemolysis).
Reticulocytosis
MedGen UID:
60089
Concept ID:
C0206160
Finding
An elevation in the number of reticulocytes (immature erythrocytes) in the peripheral blood circulation.
Hyperbilirubinemia
MedGen UID:
86321
Concept ID:
C0311468
Finding
An increased amount of bilirubin in the blood.
Reduced circulating pyrimidine 5-prime-nucleotidase activity
MedGen UID:
1053808
Concept ID:
CN376753
Finding
The activity of concentration of pyrimidine 5-prime-nucleotidase (EC 3.1.3.5) in the blood circulation is below the lower limit of normal.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHemolytic anemia due to pyrimidine 5' nucleotidase deficiency
Follow this link to review classifications for Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency in Orphanet.

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
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
David O, Vota MG, Piga A, Ramenghi U, Bosia A, Pescarmona GP
Acta Haematol 1989;82(2):69-74. doi: 10.1159/000205286. PMID: 2552730
Vives Corrons JL, Pujades MA, Aguilar i Bascompte JL, Jou JM, Rozman C, Ester A
Br J Haematol 1984 Mar;56(3):483-94. doi: 10.1111/j.1365-2141.1984.tb03978.x. PMID: 6320862

Diagnosis

Luzzatto L
Hematology Am Soc Hematol Educ Program 2021 Dec 10;2021(1):341-352. doi: 10.1182/hematology.2021000266. PMID: 34889365Free PMC Article
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
Fucharoen S, Weatherall DJ
Cold Spring Harb Perspect Med 2012 Aug 1;2(8) doi: 10.1101/cshperspect.a011734. PMID: 22908199Free PMC Article
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

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
Beck FW, Kaplan J, Fine N, Handschu W, Prasad AS
J Lab Clin Med 1997 Aug;130(2):147-56. doi: 10.1016/s0022-2143(97)90091-3. PMID: 9280142
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, Clegg JB, Weatherall DJ
Blood 1998 Sep 15;92(6):2141-6. PMID: 9731073
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
Vives Corrons JL, Pujades MA, Aguilar i Bascompte JL, Jou JM, Rozman C, Ester A
Br J Haematol 1984 Mar;56(3):483-94. doi: 10.1111/j.1365-2141.1984.tb03978.x. PMID: 6320862

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