ITPR1 gene related symptoms and diseases

All the information presented here about the ITPR1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,NCBIGENE,HGNC,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to ITPR1 gene

Symptoms // Phenotype % Cases
Ataxia Very Common - Between 80% and 100% cases
Cerebellar atrophy Very Common - Between 80% and 100% cases
Gait ataxia Very Common - Between 80% and 100% cases
Motor delay Common - Between 50% and 80% cases
Limb ataxia Common - Between 50% and 80% cases

Other less frequent symptoms and clinical features

Patients with ITPR1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Tremor
  • Dysarthria
  • Cognitive impairment
  • Nystagmus
  • Hyperreflexia
  • Not very common - Between 30% and 50% cases

  • Scanning speech
  • Abnormal cerebellum morphology
  • Titubation

And 84 more phenotypes, you can get all of them using our tools for rare diseases.

Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Rare diseases associated to ITPR1 gene

Here you will find a list of rare diseases related to the ITPR1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


SPINOCEREBELLAR ATAXIA TYPE 15/16


Alternate names

SPINOCEREBELLAR ATAXIA TYPE 15/16 Is also known as sca15/16

Description

Spinocerebellar ataxia type 15/16 (SCA15/16) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by cerebellar ataxia, tremor and cognitive impairment.

Most common symptoms of SPINOCEREBELLAR ATAXIA TYPE 15/16

  • Ataxia
  • Hyperreflexia
  • Cerebellar atrophy
  • Gait ataxia
  • Action tremor


More info about SPINOCEREBELLAR ATAXIA TYPE 15/16

SOURCES: ORPHANET

SPINOCEREBELLAR ATAXIA 15; SCA15


Alternate names

SPINOCEREBELLAR ATAXIA 15; SCA15 Is also known as sca16, formerly, spinocerebellar ataxia 16, formerly

Description

SCA15 is an autosomal dominant, adult-onset, very slowly progressive form of cerebellar ataxia. Most patients also have disabling action and postural tremor, and some have pyramidal tract affection, dorsal column involvement, and gaze palsy. Brain imaging shows cerebellar atrophy mainly affecting the vermis (summary by Synofzik et al., 2011).Heterozygous mutation in the ITPR1 gene can also cause SCA29 (OMIM ), which is distinguished by onset in infancy of delayed motor development followed by nonprogressive ataxia and mild cognitive impairment.Autosomal dominant 'pure' cerebellar ataxia, classified as ADCA type III by {3,4:Harding (1983, 1993)}, is a genetically heterogeneous disorder (see, e.g., {117210}).For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (OMIM ).

Most common symptoms of SPINOCEREBELLAR ATAXIA 15; SCA15

  • Ataxia
  • Nystagmus
  • Cognitive impairment
  • Motor delay
  • Hyperreflexia


More info about SPINOCEREBELLAR ATAXIA 15; SCA15

SOURCES: OMIM

SPINOCEREBELLAR ATAXIA TYPE 29


Alternate names

SPINOCEREBELLAR ATAXIA TYPE 29 Is also known as cnpca, aplasia of cerebellar vermis, congenital nonprogressive spinocerebellar ataxia, cerebellar vermis aplasia, sca29, cerebellar ataxia, congenital nonprogressive, autosomal dominant, acv

Description

Spinocerebellar ataxia type 29 (SCA29) is a rare subtype of autosomal dominant cerebellar ataxia type I (ADCA type I; see this term) characterized by very slowly progressive or non-progressive ataxia, dysarthria, oculomotor abnormalities and intellectual disability.

Most common symptoms of SPINOCEREBELLAR ATAXIA TYPE 29

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia


More info about SPINOCEREBELLAR ATAXIA TYPE 29

SOURCES: ORPHANET OMIM MESH

ANIRIDIA-CEREBELLAR ATAXIA-INTELLECTUAL DISABILITY SYNDROME


Alternate names

ANIRIDIA-CEREBELLAR ATAXIA-INTELLECTUAL DISABILITY SYNDROME Is also known as gillespie syndrome, aniridia, cerebellar ataxia, and mental retardation

Description

Aniridia-cerebellar ataxia-intellectual disability syndrome, also known as Gillespie syndrome, is a rare, congenital, neurological disorder characterized by the association of partial bilateral aniridia with non-progressive cerebellar ataxia, and intellectual disability.

Most common symptoms of ANIRIDIA-CEREBELLAR ATAXIA-INTELLECTUAL DISABILITY SYNDROME

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Nystagmus


More info about ANIRIDIA-CEREBELLAR ATAXIA-INTELLECTUAL DISABILITY SYNDROME

SOURCES: MESH OMIM ORPHANET


Potential gene panels for ITPR1 gene

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

Ataxia, Supplemental Dominant Evaluation Panel

United States.

By Athena Diagnostics Inc Ataxia, Supplemental Dominant Evaluation that also includes the following genes: SLC1A3 SPTBN2 VAMP1 CACNA1A CACNB4 TGM6 TTBK2 AFG3L2 EEF2 FGF14

More info about this panel

Ataxia, Complete Dominant Evaluation Panel

United States.

By Athena Diagnostics Inc Ataxia, Complete Dominant Evaluation that also includes the following genes: ATXN1 ATXN10 ATXN2 ATXN7 ATXN8OS SLC1A3 SPTBN2 TBP VAMP1 CACNA1A

More info about this panel

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

Spinocerebellar ataxia 15 (SCA15, sequence analysis of ITPR1 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the ITPR1 gene.

More info about this panel

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

Spinocerebellar ataxia type 15 (SCA15, deletion/duplication analysis of ITPR1 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the ITPR1 gene.

More info about this panel

Gillespie syndrome (sequence analysis of ITPR1 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the ITPR1 gene.

More info about this panel

Gillespie syndrome (sequence analysis of ITPR1 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the ITPR1 gene.

More info about this panel

Spinocerebellar ataxia type 15 (SCA15, deletion/duplication analysis of ITPR1 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the ITPR1 gene.

More info about this panel

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

Spinocerebellar ataxia type 15 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the ITPR1 gene.

More info about this panel

Spinocerebellar ataxia type 29 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the ITPR1 gene.

More info about this panel

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

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

Ataxia, autosomal dominant and X-linked Panel Panel

Germany.

By CeGaT GmbH Ataxia, autosomal dominant and X-linked Panel that also includes the following genes: ATXN1 ATXN10 ATXN2 ATXN7 SLC1A3 SPG7 SPTBN2 TBP VAMP1 VLDLR

More info about this panel

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

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

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

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

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

ITPR1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the ITPR1 gene.

More info about this panel

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

SPINOCEREBELLAR ATAXIA (AUTOSOMAL DOMINANT) (SCAs) Panel

Spain.

By Laboratorio de Genetica Clinica SL SPINOCEREBELLAR ATAXIA (AUTOSOMAL DOMINANT) (SCAs) that also includes the following genes: ATXN1 ATXN10 ATXN2 ATXN7 ATXN8OS SPTBN2 TBP CACNA1A NOP56 TGM6

More info about this panel

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

Spinocerebellar ataxia panel Panel

Canada.

By LifeLabs Genetics Spinocerebellar ataxia panel that also includes the following genes: ATXN1 ATXN10 ATXN2 ATXN7 ATXN8OS SPTBN2 TBP VAMP1 CACNA1A NOP56

More info about this panel

Spinocerebellar ataxia type 15, autosomal dominant Panel

Canada.

By LifeLabs Genetics

This panel specifically test the ITPR1 gene.

More info about this panel

Spinocerebellar Ataxia Type 15 , Sequencing ITPR1 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the ITPR1 gene.

More info about this panel

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

Spinocerebellar Ataxia Type 15: gene sequencing Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics

This panel specifically test the ITPR1 gene.

More info about this panel

Spinocerebellar Ataxia Type 15: gene deletion/duplication Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics

This panel specifically test the ITPR1 gene.

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 COL25A1 PEPD

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more