UROCD
MCID: URC006
MIFTS: 22

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 57 76 53 75 37 13 40 73
Encephalopathy Due to Urocanase Deficiency 59 75
Urocd 57 75
Urocanic Aciduria 59

Characteristics:

Orphanet epidemiological data:

59
urocanic aciduria
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
urocanase deficiency:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 276880
Orphanet 59 ORPHA210128
UMLS via Orphanet 74 C0268514
ICD10 via Orphanet 34 E70.8
MedGen 42 C0268514
MeSH 44 D000592
KEGG 37 H01233
UMLS 73 C0268514

Summaries for Urocanase Deficiency

UniProtKB/Swiss-Prot : 75 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. Affiliated tissues include liver, and related phenotypes are ataxia and dysarthria

Wikipedia : 76 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:

57
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

Human phenotypes related to Urocanase Deficiency:

59 32 (show all 19)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ataxia 59 32 Very frequent (99-80%) HP:0001251
2 dysarthria 59 32 hallmark (90%) Very frequent (99-80%) HP:0001260
3 gait ataxia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002066
4 recurrent infections 59 32 hallmark (90%) Very frequent (99-80%) HP:0002719
5 truncal ataxia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002078
6 action tremor 59 32 hallmark (90%) Very frequent (99-80%) HP:0002345
7 gaze-evoked horizontal nystagmus 59 32 hallmark (90%) Very frequent (99-80%) HP:0007979
8 hyperactive deep tendon reflexes 59 32 hallmark (90%) Very frequent (99-80%) HP:0006801
9 broad-based gait 59 32 hallmark (90%) Very frequent (99-80%) HP:0002136
10 abnormality of histidine metabolism 59 32 hallmark (90%) Very frequent (99-80%) HP:0010904
11 urocanic aciduria 59 32 hallmark (90%) Very frequent (99-80%) HP:0012237
12 nystagmus 32 occasional (7.5%) HP:0000639
13 tremor 32 HP:0001337
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

Anatomical Context for Urocanase Deficiency

MalaCards organs/tissues related to Urocanase Deficiency:

41
Liver

Publications for Urocanase Deficiency

Articles related to Urocanase Deficiency:

# 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:

75
# 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

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:

37
# 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 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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