TTPA gene related symptoms and diseases

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

Top 5 symptoms and clinical features associated to TTPA gene

Symptoms // Phenotype % Cases
Abnormality of retinal pigmentation Very Common - Between 80% and 100% cases
Scoliosis Uncommon - Between 30% and 50% cases
Hemiplegia/hemiparesis Uncommon - Between 30% and 50% cases
Malabsorption Uncommon - Between 30% and 50% cases
Lower limb muscle weakness Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with TTPA gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Dysmetria
  • Sensory neuropathy
  • Hypertriglyceridemia
  • Hypercholesterolemia
  • Slurred speech
  • Dysdiadochokinesis
  • Steatorrhea
  • Nyctalopia

And 35 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to TTPA gene

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


ATAXIA WITH VITAMIN E DEFICIENCY

Alternate names

ATAXIA WITH VITAMIN E DEFICIENCY Is also known as familial isolated vitamin e deficiency, aved, ataxia with isolated vitamin e deficiency, isolated vitamin e deficiency, friedreich-like ataxia, ataxia, friedreich-like, with selective vitamin e deficiency

Description

Ataxia with vitamin E deficiency (AVED) is a neurodegenerative disease belonging to the inherited cerebellar ataxias. It is mainly characterized by progressive spino-cerebellar ataxia, loss of proprioception, areflexia, and is associated with a marked deficiency in vitamin E.

Most common symptoms of ATAXIA WITH VITAMIN E DEFICIENCY

  • Scoliosis
  • Ataxia
  • Nystagmus
  • Muscle weakness
  • Spasticity


More info about ATAXIA WITH VITAMIN E DEFICIENCY

SOURCES: MESH ORPHANET OMIM

HYPERREFLEXIA; HRX

Description

Autonomic nervous system overreaction to stimuli, most commonly after spinal cord injury at a T-5 level and above.

Most common symptoms of HYPERREFLEXIA; HRX

  • Microcephaly
  • Abnormality of retinal pigmentation
  • Ankle clonus


More info about HYPERREFLEXIA; HRX

SOURCES: MESH OMIM


Potential gene panels for TTPA gene

GeneAware Complete Panel Version 2 (Female) Panel

United States.

By Baylor Miraca Genetics Laboratories GeneAware Complete Panel Version 2 (Female) that also includes the following genes: RMRP BCS1L SACS BLM SGCA SGCB SGCG SGSH SLC12A6 SLC17A5

More info about this panel
United States.

GeneAware Complete Panel Version 2 (Male) Panel

United States.

By Baylor Miraca Genetics Laboratories GeneAware Complete Panel Version 2 (Male) that also includes the following genes: RMRP BCS1L SACS BLM SGCA SGCB SGCG SGSH SLC12A6 SLC17A5

More info about this panel
United States.

Ataxia with Vitamin E Deficiency (AVED) TTPA DNA Sequencing Test Panel

United States.

By Athena Diagnostics Inc

This panel specifically test the TTPA gene.

More info about this panel
United States.

Ataxia, Supplemental Recessive Evaluation Panel

United States.

By Athena Diagnostics Inc Ataxia, Supplemental Recessive Evaluation that also includes the following genes: SACS TTPA APTX COQ8A SYNE1 TDP1 SYT14 SIL1 FLVCR1 ANO10

More info about this panel
United States.

Ataxia, Complete Recessive Evaluation Panel

United States.

By Athena Diagnostics Inc Ataxia, Complete Recessive Evaluation that also includes the following genes: SACS TTPA APTX COQ8A SYNE1 TDP1 SYT14 SIL1 FLVCR1 ANO10

More info about this panel
United States.

Ataxia, Comprehensive Evaluation Panel

United States.

By Athena Diagnostics Inc Ataxia, Comprehensive Evaluation that also includes the following genes: SACS ATXN1 ATXN10 ATXN2 ATXN7 ATXN8OS SLC1A3 SPTBN2 TBP TTPA

More info about this panel
United States.

Ataxia Exome Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Ataxia Exome Panel that also includes the following genes: BCS1L RTN2 SACS SCN1A SCN2A SCN8A SCO1 SDHA SDHD SLC16A2

More info about this panel
United States.

TTPA. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the TTPA gene.

More info about this panel
Spain.

Hereditary ataxias (NGS panel for 44 genes) Panel

Portugal.

By CGC Genetics Hereditary ataxias (NGS panel for 44 genes) that also includes the following genes: SACS SLC1A3 SPTBN2 TTPA VAMP1 VLDLR CACNA1A CACNB4 ELOVL4 ABHD12

More info about this panel
Portugal.

Ataxia with isolated vitamin E deficiency (sequence analysis of TTPA gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the TTPA gene.

More info about this panel
Portugal.

Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR

More info about this panel
United States.

Neurogenetic Disorders - panels Panel

Germany.

By MGZ Medical Genetics Center Neurogenetic Disorders - panels that also includes the following genes: BCS1L RTN2 RYR1 SACS SCN1A SCN1B SCN2A SCN8A SCO1 SCO2

More info about this panel
Germany.

Vitamin E familial isolated deficiency of Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the TTPA gene.

More info about this panel
Germany.

AllNeuro panel Panel

Germany.

By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1

More info about this panel
Germany.

Ataxia and differential diagnoses Panel Panel

Germany.

By CeGaT GmbH Ataxia and differential diagnoses Panel that also includes the following genes: RPIA SACS ATXN1 ATXN10 ATXN2 ATXN7 SCN2A SLC17A5 SLC1A3 SLC6A1

More info about this panel
Germany.

Ataxia, autosomal recessive and X-linked Panel Panel

Germany.

By CeGaT GmbH Ataxia, autosomal recessive and X-linked Panel that also includes the following genes: SACS SLC9A1 SPG7 SPTBN2 STUB1 TTPA WWOX ATP8A2 CA8 SNX14

More info about this panel
Germany.

Spinocerebellar Ataxia Panel

Estonia.

By Asper Biogene Asper Biogene LLC Spinocerebellar Ataxia that also includes the following genes: SACS SLC9A1 SLC9A6 SPTBN2 STUB1 TWNK ACO2 TTPA WFS1 WWOX

More info about this panel
Estonia.

Retinal Dystrophy Panel Panel

United States.

By Molecular Vision Laboratory Retinal Dystrophy Panel that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR

More info about this panel
United States.

MVL Vision Panel Panel

United States.

By Molecular Vision Laboratory MVL Vision Panel that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR

More info about this panel
United States.

Ataxia with Vitamin-E deficiency Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the TTPA gene.

More info about this panel
Austria.

Family Prep Screen Panel

United States.

By Counsyl Family Prep Screen that also includes the following genes: RMRP BCS1L RS1 SACS BLM SGCA SGCB SLC12A6 SLC17A5 SLC22A5

More info about this panel
United States.

qCarrier Plus Panel

Spain.

By Quantitative Genomic Medicine Laboratories, SL qCarrier Plus that also includes the following genes: RMRP RP2 RPE65 RPGR RPS6KA3 RS1 SACS SGCA SGCB SGSH

More info about this panel
Spain.

Ataxia with Vitamin-E deficiency Panel

Slovakia.

By MedGene

This panel specifically test the TTPA gene.

More info about this panel
Slovakia.

Ataxia with Vitamin E deficiency: TTPA gene mutation analysis (744delA) Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the TTPA gene.

More info about this panel
Spain.

Ataxia with vitamin E deficiency: TTPA gene sequence analysis Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the TTPA gene.

More info about this panel
Spain.

Spinocerebellar ataxia Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Spinocerebellar ataxia that also includes the following genes: SACS ATXN1 ATXN10 ATXN2 ATXN7 SLC1A3 SPTBN2 TBP TTPA VLDLR

More info about this panel
Spain.

Ataxia Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Ataxia that also includes the following genes: SACS SLC1A3 SPTBN2 TTPA CACNA1A CACNB4 APTX TGM6 COQ8A SYNE1

More info about this panel
Spain.

Hereditary Neuropathies: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Hereditary Neuropathies: Sequencing Panel that also includes the following genes: SACS SCN9A SLC12A6 SLC1A3 SPG11 ATL1 SPAST SPG7 SPTBN2 SPTLC1

More info about this panel
United States.

Pan-Ethnic Carrier Screen: Gene Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Pan-Ethnic Carrier Screen: Gene Sequencing Panel that also includes the following genes: RMRP BCS1L RS1 SACS BLM SGCA SGCB SGCG SGSH SLC12A6

More info about this panel
United States.

Hereditary Neuropathies: Deletion/Duplication Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Hereditary Neuropathies: Deletion/Duplication Panel that also includes the following genes: SACS SCN9A SLC12A6 SLC1A3 SPG11 ATL1 SPAST SPG7 SPTBN2 SPTLC1

More info about this panel
United States.

Inheritest NGS, Comprehensive Panel

United States.

By Integrated Genetics Westborough Integrated Genetics Inheritest NGS, Comprehensive that also includes the following genes: RMRP BCS1L SACS BLM SGSH SLC12A6 SLC17A5 SLC22A5 SLC26A2 SLC35A3

More info about this panel
United States.

Ataxia with vitamin E deficiency Panel

United States.

By Integrated Genetics Westborough Integrated Genetics

This panel specifically test the TTPA gene.

More info about this panel
United States.

Eye Disorders NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Eye Disorders NGS Panel that also includes the following genes: RGS9 RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR CNNM4

More info about this panel
United States.

TTPA Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the TTPA gene.

More info about this panel
United States.

Retinal Dystrophy Panel Panel

Finland.

By Blueprint Genetics Retinal Dystrophy Panel that also includes the following genes: RGS9 RHO RLBP1 ROM1 RP1 RP2 RPE65 RPGR RS1 CNNM4

More info about this panel
Finland.

Ataxia Panel Panel

Finland.

By Blueprint Genetics Ataxia Panel that also includes the following genes: SACS SLC1A3 SLC20A2 SLC2A1 SLC9A6 SPG7 SPTBN2 STUB1 TWNK ACO2

More info about this panel
Finland.

Retinitis Pigmentosa Panel Panel

Finland.

By Blueprint Genetics Retinitis Pigmentosa Panel that also includes the following genes: RHO RLBP1 ROM1 RP1 RP2 RPE65 RPGR RS1 SAG CWC27

More info about this panel
Finland.

Ataxia with vitamin E deficiency Panel

Spain.

By Bioarray

This panel specifically test the TTPA gene.

More info about this panel
Spain.

ATAXIA WITH SELECTIVE VITAMIN E DEFICIENCY (FRIEDREICH-LIKE) Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the TTPA gene.

More info about this panel
Spain.

SPINOCEREBELLAR ATAXIA NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL SPINOCEREBELLAR ATAXIA NGS PANEL that also includes the following genes: SPTBN2 STUB1 TWNK TTPA WWOX CA8 CACNA1A CACNA1G ELOVL4 APTX

More info about this panel
Spain.

Ataxia Type Friedreich by Vitamin E Deficiency, Sequencing TTPA Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the TTPA gene.

More info about this panel
Spain.

Ataxia Related Disorders , Panel Massive Sequencing (NGS) 35 Genes Panel

Spain.

By Reference Laboratory Genetics Ataxia Related Disorders , Panel Massive Sequencing (NGS) 35 Genes that also includes the following genes: SACS ATXN1 ATXN10 ATXN2 ATXN7 SPTBN2 TBP TTPA VLDLR CACNA1A

More info about this panel
Spain.

planTrue Extended Panel

United States.

By True Health Diagnostics planTrue Extended that also includes the following genes: RMRP RS1 BLM SLC17A5 SLC22A5 SLC26A2 SMN1 SMPD1 BTD TNNT1

More info about this panel
United States.

Pan-Ethnic Carrier Screen: Full Gene Sequencing and SMA Analysis Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics Pan-Ethnic Carrier Screen: Full Gene Sequencing and SMA Analysis that also includes the following genes: RMRP BCS1L SACS BLM SGCA SGCB SGCG SGSH SLC12A6 SLC17A5

More info about this panel
Canada.

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