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.

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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). Genetic Heterogeneity of X-linked Spinocerebellar AtaxiaX-linked recessive spinocerebellar ataxia (SCAX) is a clinically and genetically heterogeneous disorder. See also SCAX2 (OMIM ), SCAX3 (OMIM ), SCAX4 (OMIM ), and SCAX5 (OMIM ).

Most common symptoms of X-LINKED PROGRESSIVE CEREBELLAR ATAXIA

  • Generalized hypotonia
  • Scoliosis
  • Ataxia
  • Nystagmus
  • Strabismus


More info about X-LINKED PROGRESSIVE CEREBELLAR ATAXIA

SOURCES: MESH ORPHANET OMIM

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

SOURCES: MESH OMIM ORPHANET


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

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

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 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

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

ATP2B3 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the ATP2B3 gene.

More info about this panel

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

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

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

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

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


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