Urocanic aciduria

General Information (adopted from Orphanet):

Synonyms, Signs: Encephalopathy due to urocanase deficiency
Number of Symptoms 14
OrphanetNr: 210128
OMIM Id: 276880
ICD-10: E70.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 4 cases [Orphanet]
Inheritance: Unknown
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Disorder of histidine metabolism
 -Rare genetic disease
Neurometabolic disease
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000635) Blue irides 25 / 7739
2
 (HPO:0000639) Nystagmus rare [HPO:skoehler] 555 / 7739
3
 (HPO:0000718) Aggressive behavior 109 / 7739
4
 (HPO:0001249) Intellectual disability 1089 / 7739
5
 (HPO:0010864) Intellectual disability, severe 120 / 7739
6
 (HPO:0001251) Ataxia 413 / 7739
7
 (HPO:0006887) Intellectual disability, progressive 68 / 7739
8
 (HPO:0001337) Tremor 200 / 7739
9
 (HPO:0004322) Short stature 1232 / 7739
10
 (HPO:0002286) Fair hair 20 / 7739
11
 (HPO:0012237) Urocanic aciduria 1 / 7739
12
 (OMIM) Episodic aggression or exaggerated affection-seeking (in some patients) 1 / 7739
13
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
14
 (OMIM) Urocanase deficiency 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Yoshida et al. (1971) reported a case of urocanase deficiency. Kalafatic et al. (1980) reported 2 sisters with this deficiency. Both had severe mental retardation, short stature, blond hair, and blue eyes. They showed periods of aggression and ...
Molecular genetics OMIM In a 19-year-old Spanish woman with urocanic aciduria, mental retardation, and ataxia, Espinos et al. (2009) identified compound heterozygosity for missense mutations in the UROC1 gene (613012.0001 and 613012.0002). The unaffected father was heterozygous for 1 of the ...