Uridine 5-prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To

Description

Deficiency of pyrimidine 5-prime nucleotidase, also called uridine 5-prime monophosphate hydrolase, causes an autosomal recessive hemolytic anemia 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 (OMIM ) and pyruvate kinase (see {266200}) deficiencies--causing hemolysis (summary by Marinaki et al., 2001).

Clinical Features

Phenotypes and symptoms related to Uridine 5-prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To

  • Anemia
  • Hemolytic anemia
  • Hemoglobinuria

Incidence and onset information

Not enough data available about incidence and published cases.


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Uridine 5-prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMetĀ®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories in United States.

BRCA1, MTHFR, UBE3A, VHL, MUTYH, TP53, MCCC1, MCCC2, AARS2, ABCB11, ABCB4, ABHD12, ACACA, ACAD9, ACADM, ACADS, AGL, ACADVL, ACAT1, ZNF513 , (...)

View the complete list with 617 more genes
Specificity
1 %
Genes
100 %
Red Blood Cell Enzymopathies Panel by Next Generation Sequencing (NGS).

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

ALDOA, GPX1, GPI, AK1, NT5C3A, HK1, PFKM, G6PD, PKLR, PGK1, GCLC, GSR, TPI1, GSS
Specificity
8 %
Genes
100 %
Hemolytic Anemia Panel by next-generation sequencing (NGS).

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

ALDOA, ALAS2, GPX1, GPI, AK1, NT5C3A, HK1, PFKM, SLC2A1, G6PD, COL4A1, PIEZO1, KIF23, GATA1, KLF1, PKLR, CDAN1, SEC23B, PGK1, ABCG5 , (...)

View the complete list with 18 more genes
Specificity
3 %
Genes
100 %
NT5C3A Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

NT5C3A
Specificity
100 %
Genes
100 %
NT5C3A Deletion/duplication analysis.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

NT5C3A
Specificity
100 %
Genes
100 %
Hemolytic Anemia Deletion/Duplication Panel.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

ALDOA, GPX1, GPI, AK1, NT5C3A, HK1, PFKM, SLC2A1, G6PD, PIEZO1, KIF23, GATA1, KLF1, PKLR, CDAN1, SEC23B, PGK1, ABCG5, ABCG8, SLC4A1 , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
100 %
Red Blood Cell Enzymopathies Deletion/Duplication Panel.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

ALDOA, GPX1, GPI, AK1, NT5C3A, HK1, PFKM, G6PD, PKLR, PGK1, GCLC, GSR, TPI1, GSS
Specificity
8 %
Genes
100 %
Hereditary Hemolytic Anemia Sequencing, 28 Genes.

By ARUP Laboratories, Molecular Genetics and Genomics in United States.

ALDOA, GPI, AK1, NT5C3A, CYB5R3, HK1, PFKM, ADA, G6PD, UGT1A1, PIEZO1, PKLR, PGK1, SLC4A1, EPB41, SPTB, SPTA1, ANK1, EPB42, GCLC , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
100 %
RBC Enzymopathies (NGS panel of 14 genes).

By CGC Genetics in Portugal.

ALDOA, GPX1, GPI, AK1, NT5C3A, HK1, PFKM, G6PD, PKLR, PGK1, GCLC, GSR, TPI1, GSS
Specificity
8 %
Genes
100 %
Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency (sequence analysis of NT5C3A gene).

By CGC Genetics in Portugal.

NT5C3A
Specificity
100 %
Genes
100 %
NGS Panel for Hereditary hemolytic anemia including membranopathies (spherocytosis, elliptocytosis, xerocytosis, stomatocytosis, pyropoikylocytosis) and enzymopathies.

By BLOODGENETICS BLOODGENETICS in Spain.

ALDOA, ABCB6, GPX1, GPI, AK1, NT5C3A, CYB5R3, HK1, PFKM, ADA, SLC2A1, G6PD, UGT1A1, PIEZO1, PKLR, PGK1, ABCG5, ABCG8, SLC4A1, GYPC , (...)

View the complete list with 13 more genes
Specificity
4 %
Genes
100 %
Hereditary Hemolytic Anemia Comprehensive Sequencing, Varies.

By Mayo Clinic Genetic Testing Laboratories Mayo Clinic in United States.

ALDOA, HBB, GPI, AK1, NT5C3A, HK1, PFKM, FANCC, RPS19, SLC2A1, G6PD, UGT1A1, PIEZO1, KIF23, GATA1, KLF1, PKLR, CDAN1, SEC23B, PGK1 , (...)

View the complete list with 20 more genes
Specificity
3 %
Genes
100 %
NT5C3A.

By Fulgent Genetics Fulgent Genetics in United States.

NT5C3A
Specificity
100 %
Genes
100 %
Comprehensive Hematology Panel.

By Blueprint Genetics in Finland.

BRCA1, BRCA2, F2, F5, HFE, EPCAM, MSH2, PMS2, MSH6, MLH1, RECQL4, RUNX1, TP53, YARS2, PC, HBB, TYRP1, OCA2, AMN, SLC45A2 , (...)

View the complete list with 219 more genes
Specificity
1 %
Genes
100 %
Comprehensive Metabolism Panel.

By Blueprint Genetics in Finland.

HFE, MTHFR, MCCC1, MCCC2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2, ARG1, HLCS, BTD, ATP7B , (...)

View the complete list with 414 more genes
Specificity
1 %
Genes
100 %
Anemia Panel.

By Blueprint Genetics in Finland.

BRCA2, HFE, YARS2, PC, HBB, AMN, MTR, CLCN7, ALAS2, GPI, RPL35A, PUS1, PDHA1, ABCB7, TCN2, NT5C3A, CUBN, CYB5R3, SLC25A38, PDHX , (...)

View the complete list with 58 more genes
Specificity
2 %
Genes
100 %
Purine and Pyrimidine Metabolism Disorders Panel.

By Blueprint Genetics in Finland.

ADSL, HPRT1, DHODH, ATIC, XDH, NT5C3A, MOCS1, ADA, APRT, PNP, DPYD, UMOD, PRPS1, AMPD1, TPMT, REN, UMPS, GPHN, UPB1, DPYS , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %

Alternate names

Uridine 5-prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To Is also known as hemolytic anemia due to umph1 deficiency, pyrimidine 5-prime nucleotidase deficiency, hemolytic anemia due to, hemolytic anemia due to p5n deficiency, p5n deficiency, umph1 deficiency;p5n deficiency; umph1 deficiency; uridine 5'-monophosphate hydrolase deficiency.



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