ATP2B3 gene related symptoms and diseases
All the information presented here about the ATP2B3 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC,OMIM,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to ATP2B3 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Generalized hypotonia | Very Common - Between 80% and 100% cases |
| Babinski sign | Very Common - Between 80% and 100% cases |
| Action tremor | Very Common - Between 80% and 100% cases |
| Frequent falls | Very Common - Between 80% and 100% cases |
| Clumsiness | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with ATP2B3 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Intention tremor
- Unsteady gait
- Spastic dysarthria
- Saccadic smooth pursuit
- Neonatal hypotonia
- Motor delay
- Ataxia
- Dysarthria
And 37 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to ATP2B3 gene
Here you will find a list of rare diseases related to the ATP2B3. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
X-LINKED PROGRESSIVE CEREBELLAR ATAXIA
Alternate names
X-LINKED PROGRESSIVE CEREBELLAR ATAXIA Is also known as olivopontocerebellar atrophy, x-linked, opca, x-linked, opcax
Description
SCAX1 is an X-linked recessive neurologic disorder characterized by hypotonia at birth, delayed motor development, gait ataxia, difficulty standing, dysarthria, and slow eye movements. Brain MRI shows cerebellar ataxia (summary by Bertini et al., 2000).
Most common symptoms of X-LINKED PROGRESSIVE CEREBELLAR ATAXIA
- Generalized hypotonia
- Scoliosis
- Ataxia
- Nystagmus
- Strabismus
More info about X-LINKED PROGRESSIVE CEREBELLAR ATAXIA
X-LINKED NON PROGRESSIVE CEREBELLAR ATAXIA
Alternate names
X-LINKED NON PROGRESSIVE CEREBELLAR ATAXIA Is also known as scax5, x-linked spinocerebellar ataxia type 5
Description
X-linked non progressive cerebellar ataxia is a rare hereditary ataxia characterized by delayed early motor development, severe neonatal hypotonia, non-progressive ataxia and slow eye movements, presenting normal cognitive abilities and absence of pyramidal signs. Frequently patients also manifest intention tremor, mild dysphagia, and dysarthria. Brain MRI reveals global cerebellar atrophy with absence of other malformations or degenerations of the central and peripheral nervous systems.
Most common symptoms of X-LINKED NON PROGRESSIVE CEREBELLAR ATAXIA
- Intellectual disability
- Generalized hypotonia
- Ataxia
- Nystagmus
- Strabismus
More info about X-LINKED NON PROGRESSIVE CEREBELLAR ATAXIA
Search interest in ATP2B3
Potential gene panels for ATP2B3 gene
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 type 1, X-linked Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the ATP2B3 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, X-linked 1: ATP2B3 gene sequence analysis Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the ATP2B3 gene.
More info about this panel Spain.
ATP2B3 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the ATP2B3 gene.
More info about this panel United States.
X-chromosome High Resolution microarray analysis Panel
United States.
By Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center X-chromosome High Resolution microarray analysis that also includes the following genes: RP2 RPGR RPL10 RPS6KA3 RS1 SAT1 SH2D1A SHOX SLC16A2 SLC35A2
More info about this panel United States.
Caris MI TumorSeek 592-Gene NGS Panel Panel
United States.
By Caris Life Sciences Caris MI TumorSeek 592-Gene NGS Panel that also includes the following genes: BCL6 BCL7A BCL9 BCR ROS1 RPL10 RPL22 RPL5 RPN1 RUNX1
More info about this panel United States.
CEREBELLAR ATAXIA, NON PROGRESSIVE, X-LINKED Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the ATP2B3 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.
X-Linked Spinocerebellar Ataxia Type 1 , Sequencing ATP2B3 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the ATP2B3 gene.
More info about this panel Spain.
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