MCID: URC006
MIFTS: 22

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 53 72 49 71 36 13 69
Encephalopathy Due to Urocanase Deficiency 55 71
Urocd 53 71
Urocanic Aciduria 55

Characteristics:

Orphanet epidemiological data:

55
urocanic aciduria
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

53
Inheritance:
autosomal recessive

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


HPO:

31
urocanase deficiency:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 53 276880
Orphanet 55 ORPHA210128
UMLS via Orphanet 70 C0268514
ICD10 via Orphanet 33 E70.8
MedGen 39 C0268514
MeSH 41 D000592
KEGG 36 H01233
UMLS 69 C0268514

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 ataxia, gait ataxia and action 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.

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:

53
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:

55 31 (show all 19)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ataxia 55 31 Very frequent (99-80%) HP:0001251
2 gait ataxia 55 31 hallmark (90%) Very frequent (99-80%) HP:0002066
3 action tremor 55 31 hallmark (90%) Very frequent (99-80%) HP:0002345
4 dysarthria 55 31 hallmark (90%) Very frequent (99-80%) HP:0001260
5 recurrent infections 55 31 hallmark (90%) Very frequent (99-80%) HP:0002719
6 hyperactive deep tendon reflexes 55 31 hallmark (90%) Very frequent (99-80%) HP:0006801
7 broad-based gait 55 31 hallmark (90%) Very frequent (99-80%) HP:0002136
8 truncal ataxia 55 31 hallmark (90%) Very frequent (99-80%) HP:0002078
9 gaze-evoked horizontal nystagmus 55 31 hallmark (90%) Very frequent (99-80%) HP:0007979
10 abnormality of histidine metabolism 55 31 hallmark (90%) Very frequent (99-80%) HP:0010904
11 urocanic aciduria 55 31 hallmark (90%) Very frequent (99-80%) HP:0012237
12 tremor 31 HP:0001337
13 nystagmus 31 occasional (7.5%) HP:0000639
14 short stature 31 HP:0004322
15 intellectual disability, severe 31 HP:0010864
16 intellectual disability, progressive 31 HP:0006887
17 blue irides 31 HP:0000635
18 aggressive behavior 31 HP:0000718
19 fair hair 31 HP:0002286

UMLS symptoms related to Urocanase Deficiency:


tremor, ataxia

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:

38
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:

71
# 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.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

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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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