UROCD
MCID: URC006
MIFTS: 20

Urocanase Deficiency (UROCD)

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

Aliases & Classifications for Urocanase Deficiency

MalaCards integrated aliases for Urocanase Deficiency:

Name: Urocanase Deficiency 58 77 54 76 38 13 41 74
Encephalopathy Due to Urocanase Deficiency 60 76
Urocd 58 76
Urocanic Aciduria 60

Characteristics:

Orphanet epidemiological data:

60
urocanic aciduria
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
urocanase deficiency:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 58 276880
KEGG 38 H01233
MeSH 45 D000592
ICD10 via Orphanet 35 E70.8
UMLS via Orphanet 75 C0268514
Orphanet 60 ORPHA210128
MedGen 43 C0268514
UMLS 74 C0268514

Summaries for Urocanase Deficiency

UniProtKB/Swiss-Prot : 76 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.

MalaCards based summary : Urocanase Deficiency, is also known as encephalopathy due to urocanase deficiency, 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

Wikipedia : 77 Urocanic aciduria, is an autosomal recessive metabolic disorder caused by a deficiency of the enzyme... more...

Description from OMIM: 276880

Related Diseases for Urocanase Deficiency

Symptoms & Phenotypes for Urocanase Deficiency

Human phenotypes related to Urocanase Deficiency:

60 33 (show all 20)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dysarthria 60 33 hallmark (90%) Very frequent (99-80%) HP:0001260
2 gait ataxia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002066
3 recurrent infections 60 33 hallmark (90%) Very frequent (99-80%) HP:0002719
4 truncal ataxia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002078
5 action tremor 60 33 hallmark (90%) Very frequent (99-80%) HP:0002345
6 hyperactive deep tendon reflexes 60 33 hallmark (90%) Very frequent (99-80%) HP:0006801
7 gaze-evoked horizontal nystagmus 60 33 hallmark (90%) Very frequent (99-80%) HP:0007979
8 broad-based gait 60 33 hallmark (90%) Very frequent (99-80%) HP:0002136
9 urocanic aciduria 60 33 hallmark (90%) Very frequent (99-80%) HP:0012237
10 abnormal circulating histidine concentration 33 hallmark (90%) HP:0010904
11 nystagmus 33 occasional (7.5%) HP:0000639
12 ataxia 60 33 Very frequent (99-80%) HP:0001251
13 tremor 33 HP:0001337
14 short stature 33 HP:0004322
15 intellectual disability, severe 33 HP:0010864
16 intellectual disability, progressive 33 HP:0006887
17 blue irides 33 HP:0000635
18 aggressive behavior 33 HP:0000718
19 abnormality of histidine metabolism 60 Very frequent (99-80%)
20 fair hair 33 HP:0002286

Symptoms via clinical synopsis from OMIM:

58
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

UMLS symptoms related to Urocanase Deficiency:


ataxia, tremor

Drugs & Therapeutics for Urocanase Deficiency

Search Clinical Trials , NIH Clinical Center for Urocanase Deficiency

Genetic Tests for Urocanase Deficiency

Anatomical Context for Urocanase Deficiency

Publications for Urocanase Deficiency

Articles related to Urocanase Deficiency:

# Title Authors Year
1
Mutations in the urocanase gene UROC1 are associated with urocanic aciduria. ( 19304569 )
2009
2
[Urocanic aciduria (urocanase deficiency)]. ( 9590012 )
1998
3
A liver urocanase deficiency. ( 6107814 )
1980

Variations for Urocanase Deficiency

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

76
# Symbol AA change Variation ID SNP ID
1 UROC1 p.Arg450Cys VAR_060221 rs137852795
2 UROC1 p.Leu70Pro VAR_062649 rs137852796

ClinVar genetic disease variations for Urocanase Deficiency:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 UROC1 NM_001165974.1(UROC1): c.1528C> T (p.Arg510Cys) single nucleotide variant Pathogenic rs137852795 GRCh37 Chromosome 3, 126216984: 126216984
2 UROC1 NM_001165974.1(UROC1): c.1528C> T (p.Arg510Cys) single nucleotide variant Pathogenic rs137852795 GRCh38 Chromosome 3, 126498141: 126498141
3 UROC1 NM_001165974.1(UROC1): c.209T> C (p.Leu70Pro) single nucleotide variant Pathogenic rs137852796 GRCh37 Chromosome 3, 126229555: 126229555
4 UROC1 NM_001165974.1(UROC1): c.209T> C (p.Leu70Pro) single nucleotide variant Pathogenic rs137852796 GRCh38 Chromosome 3, 126510712: 126510712
5 UROC1 NM_144639.2(UROC1): c.40C> T (p.Arg14Trp) single nucleotide variant Uncertain significance rs147828466 GRCh37 Chromosome 3, 126236523: 126236523
6 UROC1 NM_144639.2(UROC1): c.40C> T (p.Arg14Trp) single nucleotide variant Uncertain significance rs147828466 GRCh38 Chromosome 3, 126517680: 126517680

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:

38
# 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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....