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
- Dyskinesia
- Hemolytic anemia
- 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
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 United States.
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 United States.
TPI1 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 TPI1 gene.
More info about this panel United States.
TPI1 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 TPI1 gene.
More info about this panel United States.
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 United States.
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 United States.
Dystonia Exome Panel Panel
United States.
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 United States.
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 United States.
Triose phosphate-isomerase deficiency (sequence analysis of TPI1 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the TPI1 gene.
More info about this panel Portugal.
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 Portugal.
Triosephosphate Isomerase Deficiency via TPI1 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the TPI1 gene.
More info about this panel United States.
Mental retardation - different panels Panel
Germany.
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 Germany.
Triosephosphate isomerase (TPI1) deficiency Panel
Netherlands.
By VU University Medical Center Metabolic Unit, PX 1X 009
This panel specifically test the TPI1 gene.
More info about this panel Netherlands.
Triosephosphate isomerase deficiency Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the TPI1 gene.
More info about this panel Germany.
Hemolytic anemia due to triosephosphate isomerase deficiency Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the TPI1 gene.
More info about this panel Germany.
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 Spain.
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 United States.
Nuclear-Mito NGS Panel Panel
United States.
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 United States.
TPI1 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the TPI1 gene.
More info about this panel United States.
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 Finland.
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 Finland.
Hemolytic Anemia due to Triosephosphate Isomerase Deficiency , Sequencing TPI1 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the TPI1 gene.
More info about this panel Spain.
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