TPI1 gene related symptoms and diseases
All the information presented here about the TPI1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,HGNC,ORPHANET,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to TPI1 gene
Symptoms // Phenotype | % Cases |
---|---|
Seizures | Very Common - Between 80% and 100% cases |
Progressive muscle weakness | Very Common - Between 80% and 100% cases |
Pallor | Very Common - Between 80% and 100% cases |
Abnormal pyramidal sign | Very Common - Between 80% and 100% cases |
Limb muscle weakness | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with TPI1 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Unsteady gait
- Hemolytic anemia
- Dyskinesia
- Neuronal loss in central nervous system
- Optic disc pallor
- Oligohydramnios
- Intention tremor
- Involuntary movements
And 44 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to TPI1 gene
Here you will find a list of rare diseases related to the TPI1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
TRIOSE PHOSPHATE-ISOMERASE DEFICIENCY
Description
Triosephosphate isomerase (TPI) deficiency is a severe autosomal recessive inherited multisystem disorder of glycolytic metabolism characterized by hemolytic anemia and neurodegeneration.
Most common symptoms of TRIOSE PHOSPHATE-ISOMERASE DEFICIENCY
- Seizures
- Global developmental delay
- Generalized hypotonia
- Muscle weakness
- Muscular hypotonia
More info about TRIOSE PHOSPHATE-ISOMERASE DEFICIENCY
Search interest in TPI1
Potential gene panels for TPI1 gene
Red Blood Cell Enzymopathies Panel by Next Generation Sequencing (NGS) Panel
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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![](/img/flags/United-states.png)
Hemolytic Anemia Panel by next-generation sequencing (NGS) Panel
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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![](/img/flags/United-states.png)
TPI1 Sequencing Panel
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By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center
This panel specifically test the TPI1 gene.
More info about this panel![](/img/flags/United-states.png)
TPI1 Deletion/duplication analysis Panel
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By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center
This panel specifically test the TPI1 gene.
More info about this panel![](/img/flags/United-states.png)
Hemolytic Anemia Deletion/Duplication Panel Panel
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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![](/img/flags/United-states.png)
Red Blood Cell Enzymopathies Deletion/Duplication Panel Panel
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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![](/img/flags/United-states.png)
Dystonia Exome Panel Panel
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By Genetic Services Laboratory University of Chicago Dystonia Exome Panel that also includes the following genes: BCS1L SCN8A SCP2 SDHA SGCE SLC16A2 SLC20A2 SLC2A1 SLC6A3 SLC6A8
More info about this panel![](/img/flags/United-states.png)
Hereditary Hemolytic Anemia Panel, Sequencing Panel
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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![](/img/flags/United-states.png)
Triose phosphate-isomerase deficiency (sequence analysis of TPI1 gene) Panel
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By CGC Genetics
This panel specifically test the TPI1 gene.
More info about this panel![](/img/flags/Portugal.png.pagespeed.ce.zPu4arfxQG.png)
RBC Enzymopathies (NGS panel of 14 genes) Panel
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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![](/img/flags/Portugal.png.pagespeed.ce.zPu4arfxQG.png)
Triosephosphate Isomerase Deficiency via TPI1 Gene Sequencing with CNV Detection Panel
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By PreventionGenetics PreventionGenetics
This panel specifically test the TPI1 gene.
More info about this panel![](/img/flags/United-states.png)
Mental retardation - different panels Panel
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By Institute of Human Genetics Uniklinik RWTH Aachen Mental retardation - different panels that also includes the following genes: RGS7 RIT1 RMRP BCS1L RPL10 RPS6KA3 RRAS SALL1 SC5D ATXN10
More info about this panel![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Triosephosphate isomerase (TPI1) deficiency Panel
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By VU University Medical Center Metabolic Unit, PX 1X 009
This panel specifically test the TPI1 gene.
More info about this panel![](/img/flags/Netherlands.png.pagespeed.ce.VVW97w9GfU.png)
Triosephosphate isomerase deficiency Panel
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By Centogene AG - the Rare Disease Company
This panel specifically test the TPI1 gene.
More info about this panel![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Hemolytic anemia due to triosephosphate isomerase deficiency Panel
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By Centogene AG - the Rare Disease Company
This panel specifically test the TPI1 gene.
More info about this panel![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
NGS Panel for Hereditary hemolytic anemia including membranopathies (spherocytosis, elliptocytosis, xerocytosis, stomatocytosis, pyropoikylocytosis) and enzymopathies Panel
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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![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Hereditary Hemolytic Anemia Comprehensive Sequencing, Varies Panel
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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![](/img/flags/United-states.png)
Nuclear-Mito NGS Panel Panel
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By Fulgent Genetics Fulgent Genetics Nuclear-Mito NGS Panel that also includes the following genes: RNASEL BCS1L RPL35A MRPL3 RYR1 RYR2 SACS ACSM3 SARDH ATXN7
More info about this panel![](/img/flags/United-states.png)
TPI1 Panel
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By Fulgent Genetics Fulgent Genetics
This panel specifically test the TPI1 gene.
More info about this panel![](/img/flags/United-states.png)
Comprehensive Hematology Panel Panel
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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![](/img/flags/Finland.png.pagespeed.ce.96kqieeVAM.png)
Anemia Panel Panel
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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![](/img/flags/Finland.png.pagespeed.ce.96kqieeVAM.png)
Hemolytic Anemia due to Triosephosphate Isomerase Deficiency , Sequencing TPI1 Gene Panel
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By Reference Laboratory Genetics
This panel specifically test the TPI1 gene.
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
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