UROC1 gene related symptoms and diseases
All the information presented here about the UROC1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,NCBIGENE,ORPHANET,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to UROC1 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Intellectual disability | Very Common - Between 80% and 100% cases |
| Truncal ataxia | Very Common - Between 80% and 100% cases |
| Abnormality of histidine metabolism | Very Common - Between 80% and 100% cases |
| Mood changes | Very Common - Between 80% and 100% cases |
| Gaze-evoked horizontal nystagmus | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with UROC1 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Action tremor
- Fair hair
- Blue irides
- Hyperactive deep tendon reflexes
- Encephalitis
- Intellectual disability, progressive
- Broad-based gait
- Short stature
And 11 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to UROC1 gene
Here you will find a list of rare diseases related to the UROC1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
UROCANIC ACIDURIA
Alternate names
UROCANIC ACIDURIA Is also known as encephalopathy due to urocanase deficiency
Description
Encephalopathy due to urocanase deficiency is an extremely rare histidine metabolism disorder characterized by urocanic aciduria and other variable manifestations including intellectual deficit and intermittent ataxia in the 4 cases reported to date.
Most common symptoms of UROCANIC ACIDURIA
- Intellectual disability
- Short stature
- Ataxia
- Nystagmus
- Dysarthria
More info about UROCANIC ACIDURIA
Search interest in UROC1
Potential gene panels for UROC1 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.
Urocanase deficiency (sequence analysis of UROC1 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the UROC1 gene.
More info about this panel Portugal.
Urocanase deficiency Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the UROC1 gene.
More info about this panel Germany.
Intellectual Disability NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Intellectual Disability NGS Panel that also includes the following genes: BCS1L RPS6KA3 SACS BIN1 SCN1A SCN8A SDCCAG8 SGCA SGSH ST3GAL3
More info about this panel United States.
UROC1 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the UROC1 gene.
More info about this panel United States.
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