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

SOURCES: ORPHANET MESH OMIM


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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