ORPHA:210128
Urocanic aciduria
Synonyms: Encephalopathy due to urocanase deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare histidine metabolism disorder characterized by urocanic aciduria and other variable manifestations including intellectual deficit and intermittent ataxia.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Urocanic aciduria | Encephalopathy due to urocanase deficiency |
| fr | Acidurie urocanique | Encéphalopathie par déficit en urocanase |
| de | Urocanase-Azidurie | Enzephalopathie durch Urocanase-Mangel |
| es | Aciduria urocánica | Encefalopatía por deficiencia de urocanasa |
| it | Aciduria urocanica | Encefalopatia da deficit di urocanasi |
| nl | Urocaanzuuracidurie | Encefalopathie door deficiëntie van urocanase |
| pt | Encefalopatia por deficiência de urocanase | |
| pl | Acyduria urokanianowa | Encefalopatia z powodu niedoboru urokanazy |
| cs | Urokanová acidurie | Encefalopatie způsobená deficitem urokanázy |
| uk | Сечокамяна ацидурія | Енцефалопатія внаслідок дефіциту уроканази |
| zh | 尿刊酸尿 | 尿刊酸酶缺乏所致脑病 |
| tr | Ürokanik asidüri | Ürokanaz eksikliğine bağlı ensefalopati |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 276880 | E | validated | |
| ICD-10 | E70.8 | NTBT | attributed | validated |
| ICD-11 | 5C50.21 | E | specific | validated |
| MONDO | 0010167 | E | validated | |
| MeSH | C536479 | E | validated | |
| UMLS | C0268514 | E | validated | |
| GARD | 8539 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:79181Disorder of histidine metabolism
rare inborn errors of metabolism; rare genetic diseases - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| UROC1 | Disease-causing germline mutation(s) in | Assessed | HGNC:26444 | ENSG00000159650 | 613012 | 3q21.3 | urocanate hydratase 1 | 19304569[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 4 cases | Worldwide | Case(s) | Validated | 19304569[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_19304569[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
6
HPO phenotypes
11 annotations · validated 2017-01-20| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0010904 | Abnormal circulating histidine concentration | |
| HP:0002345 | Action tremor | |
| HP:0001251 | Ataxia | |
| HP:0002136 | Broad-based gait | |
| HP:0001260 | Dysarthria | |
| HP:0002066 | Gait ataxia | |
| HP:0007979 | Gaze-evoked horizontal nystagmus | |
| HP:0006801 | Hyperactive deep tendon reflexes | |
| HP:0002719 | Recurrent infections | |
| HP:0002078 | Truncal ataxia | |
| HP:0012237 | Urocanic aciduria | |
Run the differential on the 11 obligate / very frequent terms
Annotation source: 19304569[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/210128
- This record as JSON: /data/d/210128.json