CA8 gene related symptoms and diseases
All the information presented here about the CA8 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,ORPHANET,OMIM,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to CA8 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Intellectual disability | Very Common - Between 80% and 100% cases |
| Truncal ataxia | Very Common - Between 80% and 100% cases |
| Cerebellar hypoplasia | Very Common - Between 80% and 100% cases |
| Ataxia | Very Common - Between 80% and 100% cases |
| Strabismus | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with CA8 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Tremor
- Dysarthria
Not very common - Between 30% and 50% cases
- Poor speech
- Abnormality of movement
- Dysmetria
- Arachnodactyly
- Progressive cerebellar ataxia
- Intention tremor
And 39 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to CA8 gene
Here you will find a list of rare diseases related to the CA8. 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 3; CAMRQ3
Alternate names
CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 3; CAMRQ3 Is also known as cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3
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 3; CAMRQ3
- Intellectual disability
- Ataxia
- Strabismus
- Dysarthria
- Tremor
More info about CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 3; CAMRQ3
Search interest in CA8
Potential gene panels for CA8 gene
Non-Specific Intellectual Disability Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Non-Specific Intellectual Disability Panel that also includes the following genes: RPS6KA3 CLIP1 SCN2A ST3GAL3 SLC16A2 SLC25A1 SLC6A8 SLC9A6 SMARCA4 SMARCB1
More info about this panel United States.
Autosomal Recessive Non-Specific Intellectual Disability Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Autosomal Recessive Non-Specific Intellectual Disability Panel that also includes the following genes: ST3GAL3 SLC25A1 STXBP1 VLDLR ERLIN2 CA8 CNTNAP2 ARFGEF2 PCNT L2HGDH
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.
CustomNext: Neuro Panel
United States.
By Ambry Genetics CustomNext: Neuro that also includes the following genes: RPL10 RPS6KA3 SCN1A SCN1B SCN2A SCN8A ST3GAL3 SLC16A2 SLC2A1 SLC35A2
More info about this panel United States.
Neurodevelopment-Expanded Panel
United States.
By Ambry Genetics Neurodevelopment-Expanded that also includes the following genes: RPL10 RPS6KA3 SCN1A SCN1B SCN2A SCN8A ST3GAL3 SLC16A2 SLC2A1 SLC35A2
More info about this panel United States.
IDNext Panel
United States.
By Ambry Genetics IDNext that also includes the following genes: RPL10 RPS6KA3 SCN2A SCN8A ST3GAL3 SLC16A2 SLC2A1 SLC6A8 SLC9A6 SMARCA2
More info about this panel United States.
Mental retardation - different panels Panel
Germany.
By Institute of Human Genetics Uniklinik RWTH Aachen Mental retardation - different panels that also includes the following genes: RGS7 RIT1 RMRP BCS1L RPL10 RPS6KA3 RRAS SALL1 SC5D ATXN10
More info about this panel Germany.
Cerebellar ataxia and mental retardation with or without quadrupedal locomotion type 3 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the CA8 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.
CA8 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the CA8 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 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.
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.
Mental Retardation (Complete Panel) , Panel Massive Sequencing (NGS) 91 Genes Panel
Spain.
By Reference Laboratory Genetics Mental Retardation (Complete Panel) , Panel Massive Sequencing (NGS) 91 Genes that also includes the following genes: RPS6KA3 ST3GAL3 SLC6A8 SMARCA4 SMARCB1 ARID1A KDM5C STXBP1 SYNGAP1 SYP
More info about this panel Spain.
Autosomal Recessive Mental Retardation, Panel Massive Sequencing (NGS) 32 Genes Panel
Spain.
By Reference Laboratory Genetics Autosomal Recessive Mental Retardation, Panel Massive Sequencing (NGS) 32 Genes that also includes the following genes: ST3GAL3 STXBP1 TAF2 VLDLR ERLIN2 CA8 CNTNAP2 FMN2 ZC3H14 CRADD
More info about this panel Spain.
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