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urocanic aciduria - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

urocanic aciduria

MONDO:0010167

Also known as:encephalopathy due to urocanase deficiencyurocanic aciduria (disease)UROCD

Overview

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.

GeneticsAutosomal recessive · UROC1 (chr 3)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Moderate intellectual disability, Dysmetria, and Nystagmus; and very common findings: Broad-based gait, Action tremor, Truncal ataxia, and Gait ataxia and others. 16 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	8	Broad-based gait, Action tremor, Truncal ataxia

Genetic Landscape

UROC1 function has not been fully characterized.

Urocanic aciduria has been associated with mutations in the UROC1 gene on chromosome 3.

Diagnosis

Genetic testing for UROC1 is available. Testing is considered supportive for diagnosis.

Prognosis

Phenotype severity distribution: 3 always present features, 11 very common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 12:55 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:276880

Orphanet

European rare disease database

Orphanet:210128

GARD

Genetic and Rare Diseases Info Center

GARD:8539

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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urocanic aciduria

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

Questions for Your Care Team

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