ATP8A2 gene related symptoms and diseases

All the information presented here about the ATP8A2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,OMIM,HGNC,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to ATP8A2 gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Ataxia Very Common - Between 80% and 100% cases
Truncal ataxia Very Common - Between 80% and 100% cases
Cerebellar atrophy Very Common - Between 80% and 100% cases
Dysarthria Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with ATP8A2 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Cerebellar hypoplasia
  • Not very common - Between 30% and 50% cases

  • Microcephaly
  • Global developmental delay
  • Poor speech
  • Abnormality of movement
  • Dysmetria
  • Arachnodactyly
  • Progressive cerebellar ataxia

And 38 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to ATP8A2 gene

Here you will find a list of rare diseases related to the ATP8A2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


DYSEQUILIBRIUM SYNDROME


Alternate names

DYSEQUILIBRIUM SYNDROME Is also known as cerebellar ataxia-intellectual disability-dysequilibrium syndrome syndrome, cerebellar hypoplasia, vldlr-associated, non-progressive cerebellar ataxia-intellectual disability syndrome, cerebellar ataxia and mental retardation with or without quadrupedal loco

Description

Dysequilibrium syndrome (DES) is a non-progressive cerebellar disorder characterized by ataxia associated with an intellectual disability, delayed ambulation and cerebellar hypoplasia.

Most common symptoms of DYSEQUILIBRIUM SYNDROME

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


More info about DYSEQUILIBRIUM SYNDROME

SOURCES: OMIM ORPHANET

CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 4; CAMRQ4


Alternate names

CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 4; CAMRQ4 Is also known as cerebellar ataxia and mental retardation with or without quadrupedal locomotion 4

Description

Cerebellar ataxia, mental retardation, and dysequilibrium syndrome (CAMRQ) is a genetically heterogeneous disorder characterized by congenital cerebellar ataxia and mental retardation (summary by Gulsuner et al., 2011).For a discussion of genetic heterogeneity of CAMRQ, see CAMRQ1 (OMIM ).

Most common symptoms of CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 4; CAMRQ4

  • Intellectual disability
  • Ataxia
  • Dysarthria
  • Cerebellar atrophy
  • Cerebral atrophy


More info about CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 4; CAMRQ4

SOURCES: OMIM


Potential gene panels for ATP8A2 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

Cerebellar ataxia, mental retardation and dysequilibrium syndrome 4 (sequence analysis of ATP8A2 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the ATP8A2 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

Mental retardation Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the ATP8A2 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

Single gene testing ATP8A2 Panel

Germany.

By CeGaT GmbH

This panel specifically test the ATP8A2 gene.

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 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

ATP8A2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the ATP8A2 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

ENCEPHALOPATHY, INTELLECTUAL DISABILITY, HYPOTONY, KOREA AND OPTICAL ATROPHY Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the ATP8A2 gene.

More info about this panel

CEREBELLAR ATAXIA, CONGENITAL, MENTAL RETARDATION, DYSEQUILIBRIUM Panel

Spain.

By Laboratorio de Genetica Clinica SL CEREBELLAR ATAXIA, CONGENITAL, MENTAL RETARDATION, DYSEQUILIBRIUM that also includes the following genes: VLDLR ATP8A2 CA8 WDR81

More info about this panel


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