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 52 48 24 70 12 68
Encephalopathy Due to Urocanase Deficiency 54 70
 
Urocanic Aciduria 54
Urocd 70

Characteristics:

Orphanet epidemiological data:

54
encephalopathy due to urocanase deficiency:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal

HPO:

64
urocanase deficiency:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 276880
Orphanet54 ORPHA210128
ICD10 via Orphanet31 E70.8
MedGen37 C0268514
MeSH39 D000592

Summaries for Urocanase Deficiency

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UniProtKB/Swiss-Prot:70 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:71 Urocanic aciduria, also called urocanate hydratase deficiency or urocanase deficiency, is an autosomal... more...

Description from OMIM:52 276880

Related Diseases for Urocanase Deficiency

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Symptoms & Phenotypes 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:

 64 (show all 10)
id Description HPO Frequency HPO Source Accession
1 nystagmus64 rare (5%) HP:0000639
2 blue irides64 HP:0000635
3 aggressive behavior64 HP:0000718
4 ataxia64 HP:0001251
5 tremor64 HP:0001337
6 fair hair64 HP:0002286
7 short stature64 HP:0004322
8 intellectual disability, progressive64 HP:0006887
9 intellectual disability, severe64 HP:0010864
10 urocanic aciduria64 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:

36
Liver

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:

70
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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet