MCID: URC006
MIFTS: 21

Urocanase Deficiency

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

Aliases & Classifications for Urocanase Deficiency

MalaCards integrated aliases for Urocanase Deficiency:

Name: Urocanase Deficiency 54 50 24 71 13 69
Encephalopathy Due to Urocanase Deficiency 56 71
Urocanic Aciduria 56
Urocd 71

Characteristics:

Orphanet epidemiological data:

56
urocanic aciduria
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

54
Inheritance:
autosomal recessive

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


HPO:

32
urocanase deficiency:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Urocanase Deficiency

UniProtKB/Swiss-Prot : 71 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 dysarthria, ataxia and recurrent infections. An important gene associated with Urocanase Deficiency is UROC1 (Urocanate Hydratase 1). Affiliated tissues include liver.

Wikipedia : 72 Urocanic aciduria, also called urocanate hydratase deficiency or urocanase deficiency, is an autosomal... more...

Description from OMIM: 276880

Related Diseases for Urocanase Deficiency

Symptoms & Phenotypes for Urocanase Deficiency

Symptoms via clinical synopsis from OMIM:

54

Growth- Height:
short stature

Head And Neck- Eyes:
nystagmus (in some patients)

Laboratory- Abnormalities:
urocanase deficiency

Neurologic- Central Nervous System:
mental retardation
ataxia
tremor

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


Clinical features from OMIM:

276880

Human phenotypes related to Urocanase Deficiency:

56 32 (show all 19)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dysarthria 56 32 hallmark (90%) Very frequent (99-80%) HP:0001260
2 ataxia 56 32 Very frequent (99-80%) HP:0001251
3 recurrent infections 56 32 hallmark (90%) Very frequent (99-80%) HP:0002719
4 gaze-evoked horizontal nystagmus 56 32 hallmark (90%) Very frequent (99-80%) HP:0007979
5 gait ataxia 56 32 hallmark (90%) Very frequent (99-80%) HP:0002066
6 truncal ataxia 56 32 hallmark (90%) Very frequent (99-80%) HP:0002078
7 broad-based gait 56 32 hallmark (90%) Very frequent (99-80%) HP:0002136
8 action tremor 56 32 hallmark (90%) Very frequent (99-80%) HP:0002345
9 hyperactive deep tendon reflexes 56 32 hallmark (90%) Very frequent (99-80%) HP:0006801
10 abnormality of histidine metabolism 56 32 hallmark (90%) Very frequent (99-80%) HP:0010904
11 urocanic aciduria 56 32 hallmark (90%) Very frequent (99-80%) HP:0012237
12 short stature 32 HP:0004322
13 nystagmus 32 occasional (7.5%) HP:0000639
14 tremor 32 HP:0001337
15 intellectual disability, severe 32 HP:0010864
16 aggressive behavior 32 HP:0000718
17 blue irides 32 HP:0000635
18 fair hair 32 HP:0002286
19 intellectual disability, progressive 32 HP:0006887

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

Genetic tests related to Urocanase Deficiency:

id Genetic test Affiliating Genes
1 Urocanase Deficiency 24 UROC1

Anatomical Context for Urocanase Deficiency

MalaCards organs/tissues related to Urocanase Deficiency:

39
Liver

Publications for Urocanase Deficiency

Articles related to Urocanase Deficiency:

id Title Authors Year
1
[Urocanic aciduria (urocanase deficiency)]. ( 9590012 )
1998
2
A liver urocanase deficiency. ( 6107814 )
1980

Variations for Urocanase Deficiency

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

71
id 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
id 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.209T> C (p.Leu70Pro) single nucleotide variant Pathogenic rs137852796 GRCh37 Chromosome 3, 126229555: 126229555

Expression for Urocanase Deficiency

Search GEO for disease gene expression data for Urocanase Deficiency.

Pathways for Urocanase Deficiency

GO Terms for Urocanase Deficiency

Sources for Urocanase Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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