1. Mendelian
  2. Rare Disease Genes
  3. UROC1

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.

Table of contents:

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

SOURCES: ORPHANET MESH OMIM


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.

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like ARHGAP24 TMPRSS3 SGCA BRWD3 ABCG5 ADK TNNT1