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.
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
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
Search interest in ATP8A2
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 United States.
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 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.
Mental retardation Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the ATP8A2 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.
Single gene testing ATP8A2 Panel
Germany.
By CeGaT GmbH
This panel specifically test the ATP8A2 gene.
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 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.
ATP8A2 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the ATP8A2 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.
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 Spain.
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 Spain.
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