NT5C3A gene related symptoms and diseases

All the information presented here about the NT5C3A gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,OMIM,HGNC,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to NT5C3A gene

Symptoms // Phenotype % Cases
Anemia Very Common - Between 80% and 100% cases
Hemolytic anemia Very Common - Between 80% and 100% cases
Hemoglobinuria Very Common - Between 80% and 100% cases

Rare diseases associated to NT5C3A gene

Here you will find a list of rare diseases related to the NT5C3A. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


HEMOLYTIC ANEMIA DUE TO PYRIMIDINE 5' NUCLEOTIDASE DEFICIENCY


Alternate names

HEMOLYTIC ANEMIA DUE TO PYRIMIDINE 5' NUCLEOTIDASE DEFICIENCY Is also known as hemolytic anemia due to umph1 deficiency, p5n deficiency, hemolytic anemia due to p5n deficiency, pyrimidine 5-prime nucleotidase deficiency, hemolytic anemia due to, uridine 5'-monophosphate hydrolase deficiency, umph1 deficiency

Description

Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency is a rare, hereditary, hemolytic anemia due to an erythrocyte nucleotide metabolism disorder characterized by mild to moderate hemolytic anemia associated with basophilic stippling and the accumulation of high concentrations of pyrimidine nucleotides within the erythrocyte. Patients present with variable features of jaundice, splenomegaly, hepatomegaly, gallstones, and sometimes require transfusions. Rare cases of mild development delay and learning difficulties are reported.

Most common symptoms of HEMOLYTIC ANEMIA DUE TO PYRIMIDINE 5' NUCLEOTIDASE DEFICIENCY

  • Anemia
  • Hemolytic anemia
  • Hemoglobinuria


More info about HEMOLYTIC ANEMIA DUE TO PYRIMIDINE 5' NUCLEOTIDASE DEFICIENCY

SOURCES: ORPHANET OMIM MESH


Potential gene panels for NT5C3A gene

MitoMet®Plus aCGH Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories MitoMet®Plus aCGH Analysis that also includes the following genes: RGS9 RHO GRK1 RLBP1 RNASEL BCS1L RP1 RP2 RP9 RPE65

More info about this panel

Red Blood Cell Enzymopathies Panel by Next Generation Sequencing (NGS) Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Red Blood Cell Enzymopathies Panel by Next Generation Sequencing (NGS) that also includes the following genes: TPI1 NT5C3A AK1 G6PD ALDOA GCLC GPI GPX1 GSS HK1

More info about this panel

Hemolytic Anemia Panel by next-generation sequencing (NGS) Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Hemolytic Anemia Panel by next-generation sequencing (NGS) that also includes the following genes: RHAG SEC23B SLC2A1 SPTA1 SPTB TPI1 XK ATP11C ABCG5 ABCG8

More info about this panel

NT5C3A Sequencing Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center

This panel specifically test the NT5C3A gene.

More info about this panel

NT5C3A Deletion/duplication analysis Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center

This panel specifically test the NT5C3A gene.

More info about this panel

Hemolytic Anemia Deletion/Duplication Panel Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Hemolytic Anemia Deletion/Duplication Panel that also includes the following genes: RHAG SEC23B SLC2A1 SPTA1 SPTB TPI1 XK ABCG5 ABCG8 LPIN2

More info about this panel

Red Blood Cell Enzymopathies Deletion/Duplication Panel Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Red Blood Cell Enzymopathies Deletion/Duplication Panel that also includes the following genes: TPI1 NT5C3A AK1 G6PD ALDOA GCLC GPI GPX1 GSS HK1

More info about this panel

Hereditary Hemolytic Anemia Panel, Sequencing Panel

United States.

By ARUP Laboratories, Molecular Genetics and Genomics Hereditary Hemolytic Anemia Panel, Sequencing that also includes the following genes: SLCO1B1 SLCO1B3 SPTA1 SPTB TPI1 UGT1A1 UGT1A6 UGT1A7 NT5C3A ADA

More info about this panel

RBC Enzymopathies (NGS panel of 14 genes) Panel

Portugal.

By CGC Genetics RBC Enzymopathies (NGS panel of 14 genes) that also includes the following genes: TPI1 NT5C3A AK1 G6PD ALDOA GCLC GPI GPX1 GSS HK1

More info about this panel

Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency (sequence analysis of NT5C3A gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the NT5C3A gene.

More info about this panel

NGS Panel for Hereditary hemolytic anemia including membranopathies (spherocytosis, elliptocytosis, xerocytosis, stomatocytosis, pyropoikylocytosis) and enzymopathies Panel

Spain.

By BLOODGENETICS BLOODGENETICS NGS Panel for Hereditary hemolytic anemia including membranopathies (spherocytosis, elliptocytosis, xerocytosis, stomatocytosis, pyropoikylocytosis) and enzymopathies that also includes the following genes: RHAG BPGM SLC2A1 SPTA1 SPTB TPI1 UGT1A1 XK ABCG5 ABCG8

More info about this panel

Hereditary Hemolytic Anemia Comprehensive Sequencing, Varies Panel

United States.

By Mayo Clinic Genetic Testing Laboratories Mayo Clinic Hereditary Hemolytic Anemia Comprehensive Sequencing, Varies that also includes the following genes: RHAG RPS19 SEC23B SLC2A1 SPTA1 SPTB TPI1 UGT1A1 XK CD59

More info about this panel

NT5C3A Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the NT5C3A gene.

More info about this panel

Comprehensive Hematology Panel Panel

Finland.

By Blueprint Genetics Comprehensive Hematology Panel that also includes the following genes: RHAG RIT1 RPL11 RPL15 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26

More info about this panel

Comprehensive Metabolism Panel Panel

Finland.

By Blueprint Genetics Comprehensive Metabolism Panel that also includes the following genes: BCS1L CNNM2 RYR1 CNNM4 SCN4A SEC23B SGSH SI SLC40A1 SLC12A3

More info about this panel

Anemia Panel Panel

Finland.

By Blueprint Genetics Anemia Panel that also includes the following genes: RHAG RPL11 RPL15 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26 RPS29

More info about this panel

Purine and Pyrimidine Metabolism Disorders Panel Panel

Finland.

By Blueprint Genetics Purine and Pyrimidine Metabolism Disorders Panel that also includes the following genes: TPMT UMOD UMPS XDH GPHN UPB1 NT5C3A MOCOS ADA DHODH

More info about this panel


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like PRDM8 POP1 RFWD3 SCA32 CEP63 NDUFAF5

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more