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.
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
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
Search interest in ITPR1
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 United States.
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 United States.
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 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.
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 Portugal.
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.
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 Portugal.
Gillespie syndrome (sequence analysis of ITPR1 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the ITPR1 gene.
More info about this panel Portugal.
Gillespie syndrome (sequence analysis of ITPR1 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the ITPR1 gene.
More info about this panel Portugal.
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 Portugal.
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.
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 Germany.
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 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 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 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.
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.
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.
ITPR1 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the ITPR1 gene.
More info about this panel United States.
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.
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 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.
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 Canada.
Spinocerebellar ataxia type 15, autosomal dominant Panel
Canada.
By LifeLabs Genetics
This panel specifically test the ITPR1 gene.
More info about this panel Canada.
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 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.
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 Canada.
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 Canada.
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