UBA5 gene related symptoms and diseases
All the information presented here about the UBA5 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,NCBIGENE,HGNC,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to UBA5 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Intellectual disability | Common - Between 50% and 80% cases |
| Hypertonia | Common - Between 50% and 80% cases |
| Seizures | Common - Between 50% and 80% cases |
| Cerebellar atrophy | Common - Between 50% and 80% cases |
| Muscular hypotonia of the trunk | Common - Between 50% and 80% cases |
Other less frequent symptoms and clinical features
Patients with UBA5 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Encephalopathy
- Dystonia
- Absent speech
- Spasticity
- Ataxia
- Microcephaly
- Generalized hypotonia
- Global developmental delay
And 38 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to UBA5 gene
Here you will find a list of rare diseases related to the UBA5. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
UNDETERMINED EARLY-ONSET EPILEPTIC ENCEPHALOPATHY
Alternate names
UNDETERMINED EARLY-ONSET EPILEPTIC ENCEPHALOPATHY Is also known as undetermined eoee
Most common symptoms of UNDETERMINED EARLY-ONSET EPILEPTIC ENCEPHALOPATHY
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
- Microcephaly
More info about UNDETERMINED EARLY-ONSET EPILEPTIC ENCEPHALOPATHY
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44; EIEE44
Most common symptoms of EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44; EIEE44
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44; EIEE44
SOURCES: OMIM
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 24; SCAR24
Most common symptoms of SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 24; SCAR24
- Ataxia
- Growth delay
- Nystagmus
- Cataract
- Delayed speech and language development
More info about SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 24; SCAR24
SOURCES: OMIM
Search interest in UBA5
Potential gene panels for UBA5 gene
Dystonia Exome Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Dystonia Exome Panel that also includes the following genes: BCS1L SCN8A SCP2 SDHA SGCE SLC16A2 SLC20A2 SLC2A1 SLC6A3 SLC6A8
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.
Epilepsy and Seizure Plus Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Epilepsy and Seizure Plus Sequencing Panel with CNV Detection that also includes the following genes: RORB RYR3 SCN1A SCN1B SCN2A SCN3A SCN5A SCN8A SCN9A SGCE
More info about this panel United States.
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.
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.
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.
Epileptic Encephalopathy Panel Panel
Finland.
By Blueprint Genetics Epileptic Encephalopathy Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCO1 ST3GAL3 ST3GAL5 SLC25A1 SLC2A1 SLC35A2
More info about this panel Finland.
Comprehensive Epilepsy Panel Panel
Finland.
By Blueprint Genetics Comprehensive Epilepsy Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A SCO1 AIMP1 ST3GAL3 ST3GAL5 SLC25A1
More info about this panel Finland.
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