ATCAY gene related symptoms and diseases
All the information presented here about the ATCAY gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,ORPHANET,HGNC,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to ATCAY gene
Symptoms // Phenotype | % Cases |
---|---|
Global developmental delay | Very Common - Between 80% and 100% cases |
Generalized hypotonia | Very Common - Between 80% and 100% cases |
Ataxia | Very Common - Between 80% and 100% cases |
Nystagmus | Very Common - Between 80% and 100% cases |
Muscular hypotonia | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with ATCAY gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Dysarthria
- Tremor
- Cerebellar hypoplasia
- Gait ataxia
- Intention tremor
- Broad-based gait
- Truncal ataxia
- Abnormal retinal morphology
And 1 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to ATCAY gene
Here you will find a list of rare diseases related to the ATCAY. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
CEREBELLAR ATAXIA, CAYMAN TYPE
Alternate names
CEREBELLAR ATAXIA, CAYMAN TYPE Is also known as cayman ataxia
Description
Cerebellar ataxia, Cayman type is characterised by psychomotor retardation, hypotonia and cerebellar dysfunction (nystagmus, ataxic gait, truncal ataxia, dysarthric speech and intention tremor), associated with cerebellar hypoplasia.
Most common symptoms of CEREBELLAR ATAXIA, CAYMAN TYPE
- Global developmental delay
- Generalized hypotonia
- Ataxia
- Nystagmus
- Muscular hypotonia
More info about CEREBELLAR ATAXIA, CAYMAN TYPE
Search interest in ATCAY
Potential gene panels for ATCAY gene
Ataxia Exome Panel Panel
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 panelAllNeuro panel Panel
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 panelAtaxia and differential diagnoses Panel Panel
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 panelAtaxia, autosomal recessive and X-linked Panel Panel
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 panelSpinocerebellar Ataxia Panel
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 panelATCAY Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the ATCAY gene.
More info about this panelAtaxia Panel Panel
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 panelSPINOCEREBELLAR ATAXIA NGS PANEL Panel
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 panelIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like MIPEP MYH14 CAMK2B DSE ABCG5 APOL4 STUB1