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 51 47 24 69 12 67
Encephalopathy Due to Urocanase Deficiency 53 69
 
Urocanic Aciduria 53
Urocd 69

Characteristics:

Orphanet epidemiological data:

53
encephalopathy due to urocanase deficiency:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal

HPO:

63
urocanase deficiency:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM51 276880
Orphanet53 ORPHA210128
ICD10 via Orphanet30 E70.8
MedGen36 C0268514
MeSH38 D000592

Summaries for Urocanase Deficiency

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UniProtKB/Swiss-Prot:69 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:70 Urocanic aciduria, also called urocanate hydratase deficiency or urocanase deficiency, is an autosomal... more...

Description from OMIM:51 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

Human phenotypes related to Urocanase Deficiency:

 63 (show all 10)
id Description HPO Frequency HPO Source Accession
1 nystagmus63 rare (5%) HP:0000639
2 blue irides63 HP:0000635
3 aggressive behavior63 HP:0000718
4 ataxia63 HP:0001251
5 tremor63 HP:0001337
6 fair hair63 HP:0002286
7 short stature63 HP:0004322
8 intellectual disability, progressive63 HP:0006887
9 intellectual disability, severe63 HP:0010864
10 urocanic aciduria63 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 Deficiency24 UROC1

Anatomical Context for Urocanase Deficiency

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MalaCards organs/tissues related to Urocanase Deficiency:

35
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:

69
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)SNVPathogenicrs137852795GRCh37Chr 3, 126216984: 126216984
2UROC1NM_001165974.1(UROC1): c.209T> C (p.Leu70Pro)SNVPathogenicrs137852796GRCh37Chr 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
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet