MCID: URC006
MIFTS: 19

Urocanase Deficiency malady

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

Aliases & Classifications for Urocanase Deficiency

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Aliases & Descriptions for Urocanase Deficiency:

Name: Urocanase Deficiency 50 46 23 68 12 66
Encephalopathy Due to Urocanase Deficiency 52 68
 
Urocanic Aciduria 52
Urocd 68

Characteristics:

Orphanet epidemiological data:

52
encephalopathy due to urocanase deficiency:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal

HPO:

62
urocanase deficiency:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 276880
Orphanet52 ORPHA210128
ICD10 via Orphanet29 E70.8
MedGen35 C0268514
MeSH37 D000592

Summaries for Urocanase Deficiency

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UniProtKB/Swiss-Prot:68 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 nystagmus, blue irides and aggressive behavior. An important gene associated with Urocanase Deficiency is UROC1 (Urocanate Hydratase 1). Affiliated tissues include liver.

Wikipedia:69 Urocanic aciduria, also called urocanate hydratase deficiency or urocanase deficiency, is an autosomal... more...

Description from OMIM:50 276880

Related Diseases for Urocanase Deficiency

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Symptoms for Urocanase Deficiency

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Symptoms by clinical synopsis from OMIM:

276880

Clinical features from OMIM:

276880

HPO human phenotypes related to Urocanase Deficiency:

(show all 10)
id Description Frequency HPO Source Accession
1 nystagmus rare (5%) HP:0000639
2 blue irides HP:0000635
3 aggressive behavior HP:0000718
4 ataxia HP:0001251
5 tremor HP:0001337
6 fair hair HP:0002286
7 short stature HP:0004322
8 intellectual disability, progressive HP:0006887
9 intellectual disability, severe HP:0010864
10 urocanic aciduria HP:0012237

UMLS symptoms related to Urocanase Deficiency:


ataxia, tremor

Drugs & Therapeutics for Urocanase Deficiency

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Urocanase Deficiency

Genetic Tests for Urocanase Deficiency

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Genetic tests related to Urocanase Deficiency:

id Genetic test Affiliating Genes
1 Urocanase Deficiency23 UROC1

Anatomical Context for Urocanase Deficiency

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MalaCards organs/tissues related to Urocanase Deficiency:

34
Liver

Animal Models for Urocanase Deficiency or affiliated genes

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Publications for Urocanase Deficiency

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Articles related to Urocanase Deficiency:

idTitleAuthorsYear
1
Urocanic aciduria (urocanase deficiency)]. (9590012)
1998
2
A liver urocanase deficiency. (6107814)
1980

Variations for Urocanase Deficiency

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

68
id Symbol AA change Variation ID SNP ID
1UROC1p.Arg450CysVAR_060221rs137852795
2UROC1p.Leu70ProVAR_062649rs137852796

Clinvar genetic disease variations for Urocanase Deficiency:

5
id Gene Variation Type Significance SNP ID Assembly Location
1UROC1NM_001165974.1(UROC1): c.1528C> T (p.Arg510Cys)single nucleotide variantPathogenicrs137852795GRCh37Chr 3, 126216984: 126216984
2UROC1NM_001165974.1(UROC1): c.209T> C (p.Leu70Pro)single nucleotide variantPathogenicrs137852796GRCh37Chr 3, 126229555: 126229555

Expression for genes affiliated with Urocanase Deficiency

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Search GEO for disease gene expression data for Urocanase Deficiency.

Pathways for genes affiliated with Urocanase Deficiency

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GO Terms for genes affiliated with Urocanase Deficiency

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Sources for Urocanase Deficiency

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet