UROCD
MCID: URC006
MIFTS: 20

Urocanase Deficiency (UROCD) malady

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

Aliases & Classifications for Urocanase Deficiency

Aliases & Descriptions for Urocanase Deficiency:

Name: Urocanase Deficiency 54 50 24 66 13 69
Encephalopathy Due to Urocanase Deficiency 56 66
Urocanic Aciduria 56
Urocd 66

Characteristics:

Orphanet epidemiological data:

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

HPO:

32
urocanase deficiency:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 276880
Orphanet 56 ORPHA210128
ICD10 via Orphanet 34 E70.8
MedGen 40 C0268514
MeSH 42 D000592

Summaries for Urocanase Deficiency

UniProtKB/Swiss-Prot : 66 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, gait ataxia and action tremor. An important gene associated with Urocanase Deficiency is UROC1 (Urocanate Hydratase 1). Affiliated tissues include liver.

Wikipedia : 71 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 by clinical synopsis from OMIM:

276880

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

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:

66
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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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