UROCD
MCID: URC006
MIFTS: 27

Urocanase Deficiency (UROCD)

Categories: Genetic diseases, Mental diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Urocanase Deficiency

MalaCards integrated aliases for Urocanase Deficiency:

Name: Urocanase Deficiency 57 12 73 20 72 36 13 44 39 70
Encephalopathy Due to Urocanase Deficiency 12 58 72
Urocanate Hydratase Deficiency 12 29 6
Urocd 57 12 72
Urocanic Aciduria 12 58
High Urine Urocanic Acid Levels 12

Characteristics:

Orphanet epidemiological data:

58
urocanic aciduria
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
defect in urocanic acid conversion to formiminoglutamic acid (figlu)


HPO:

31
urocanase deficiency:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Inborn errors of metabolism


External Ids:

Disease Ontology 12 DOID:0112180
OMIM® 57 276880
KEGG 36 H01233
SNOMED-CT 67 60952007
ICD10 via Orphanet 33 E70.8
UMLS via Orphanet 71 C0268514
Orphanet 58 ORPHA210128
MedGen 41 C0268514
UMLS 70 C0268514

Summaries for Urocanase Deficiency

KEGG : 36 Urocanase deficiency is an autosomal recessive disoder of histidine metabolism caused by mutations in the UROC1 gene. It is characterized by mental retardation, urocanic aciduria, and a defective activity of urocanase of the liver. Patients sometimes display ataxia.

MalaCards based summary : Urocanase Deficiency, also known as encephalopathy due to urocanase deficiency, is related to ataxia and polyneuropathy, adult-onset and histidinemia, and has symptoms including ataxia and tremor. An important gene associated with Urocanase Deficiency is UROC1 (Urocanate Hydratase 1), and among its related pathways/superpathways is Histidine metabolism. Related phenotypes are dysarthria and gait ataxia

Disease Ontology : 12 A histidine metabolism disease characterized by urocanic aciduria and other variable manifestations including intellectual disability and intermittent ataxia that has material basis in mutation homozygous or compound heterozygous in UROC1 on chromosome 3q21.3.

UniProtKB/Swiss-Prot : 72 Urocanase deficiency: An inborn error of histidine metabolism resulting in urocanic aciduria and neurological manifestations including mental retardation, ataxia, episodic aggressive behavior or exaggerated affection-seeking.

Wikipedia : 73 Urocanic aciduria, is an autosomal recessive metabolic disorder caused by a deficiency of the enzyme... more...

More information from OMIM: 276880

Related Diseases for Urocanase Deficiency

Diseases related to Urocanase Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 ataxia and polyneuropathy, adult-onset 10.0
2 histidinemia 10.0

Symptoms & Phenotypes for Urocanase Deficiency

Human phenotypes related to Urocanase Deficiency:

58 31 (show all 20)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dysarthria 58 31 hallmark (90%) Very frequent (99-80%) HP:0001260
2 gait ataxia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002066
3 broad-based gait 58 31 hallmark (90%) Very frequent (99-80%) HP:0002136
4 recurrent infections 58 31 hallmark (90%) Very frequent (99-80%) HP:0002719
5 hyperactive deep tendon reflexes 58 31 hallmark (90%) Very frequent (99-80%) HP:0006801
6 truncal ataxia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002078
7 action tremor 58 31 hallmark (90%) Very frequent (99-80%) HP:0002345
8 gaze-evoked horizontal nystagmus 58 31 hallmark (90%) Very frequent (99-80%) HP:0007979
9 urocanic aciduria 58 31 hallmark (90%) Very frequent (99-80%) HP:0012237
10 abnormal circulating histidine concentration 31 hallmark (90%) HP:0010904
11 nystagmus 31 occasional (7.5%) HP:0000639
12 ataxia 58 31 Very frequent (99-80%) HP:0001251
13 tremor 31 HP:0001337
14 short stature 31 HP:0004322
15 intellectual disability, severe 31 HP:0010864
16 blue irides 31 HP:0000635
17 intellectual disability, progressive 31 HP:0006887
18 aggressive behavior 31 HP:0000718
19 fair hair 31 HP:0002286
20 abnormality of histidine metabolism 58 Very frequent (99-80%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
ataxia
tremor
mental retardation

Head And Neck Eyes:
nystagmus (in some patients)

Laboratory Abnormalities:
urocanase deficiency

Growth Height:
short stature

Neurologic Behavioral Psychiatric Manifestations:
episodic aggression or exaggerated affection-seeking (in some patients)

Clinical features from OMIM®:

276880 (Updated 20-May-2021)

UMLS symptoms related to Urocanase Deficiency:


ataxia; tremor

Drugs & Therapeutics for Urocanase Deficiency

Search Clinical Trials , NIH Clinical Center for Urocanase Deficiency

Cochrane evidence based reviews: urocanase deficiency

Genetic Tests for Urocanase Deficiency

Genetic tests related to Urocanase Deficiency:

# Genetic test Affiliating Genes
1 Urocanate Hydratase Deficiency 29 UROC1

Anatomical Context for Urocanase Deficiency

Publications for Urocanase Deficiency

Articles related to Urocanase Deficiency:

# Title Authors PMID Year
1
Mutations in the urocanase gene UROC1 are associated with urocanic aciduria. 6 57
19304569 2009
2
A liver urocanase deficiency. 57 61
6107814 1980
3
Urocanic aciduria: a defect in the urocanase activity in the liver of a mentally retarded. 57
5124677 1971
4
Untargeted metabolomics identifies unique though benign biochemical changes in patients with pathogenic variants in UROC1. 61
30619714 2019
5
[Urocanic aciduria (urocanase deficiency)]. 61
9590012 1998

Variations for Urocanase Deficiency

ClinVar genetic disease variations for Urocanase Deficiency:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 UROC1 NM_144639.3(UROC1):c.1348C>T (p.Arg450Cys) SNV Pathogenic 407 rs137852795 GRCh37: 3:126216984-126216984
GRCh38: 3:126498141-126498141
2 UROC1 NM_144639.3(UROC1):c.209T>C (p.Leu70Pro) SNV Pathogenic 408 rs137852796 GRCh37: 3:126229555-126229555
GRCh38: 3:126510712-126510712
3 UROC1 NM_144639.3(UROC1):c.1448_1449del (p.Ser483fs) Deletion Pathogenic 973479 GRCh37: 3:126214941-126214942
GRCh38: 3:126496098-126496099
4 UROC1 NM_144639.3(UROC1):c.855G>A (p.Trp285Ter) SNV Pathogenic 973482 GRCh37: 3:126222885-126222885
GRCh38: 3:126504042-126504042
5 UROC1 NM_144639.3(UROC1):c.40C>T (p.Arg14Trp) SNV Uncertain significance 212549 rs147828466 GRCh37: 3:126236523-126236523
GRCh38: 3:126517680-126517680
6 UROC1 NM_144639.3(UROC1):c.640G>A (p.Gly214Ser) SNV Uncertain significance 1032449 GRCh37: 3:126224817-126224817
GRCh38: 3:126505974-126505974
7 UROC1 NM_144639.3(UROC1):c.854G>A (p.Trp285Ter) SNV Uncertain significance 638417 rs202232611 GRCh37: 3:126222886-126222886
GRCh38: 3:126504043-126504043
8 UROC1 NM_144639.3(UROC1):c.903-29G>A SNV Likely benign 973468 GRCh37: 3:126220152-126220152
GRCh38: 3:126501309-126501309

UniProtKB/Swiss-Prot genetic disease variations for Urocanase Deficiency:

72
# Symbol AA change Variation ID SNP ID
1 UROC1 p.Arg450Cys VAR_060221 rs137852795
2 UROC1 p.Leu70Pro VAR_062649 rs137852796

Expression for Urocanase Deficiency

Search GEO for disease gene expression data for Urocanase Deficiency.

Pathways for Urocanase Deficiency

Pathways related to Urocanase Deficiency according to KEGG:

36
# Name Kegg Source Accession
1 Histidine metabolism hsa00340

GO Terms for Urocanase Deficiency

Sources for Urocanase Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....