URCTU
MCID: URD003
MIFTS: 12

Uridine-Cytidineuria (URCTU)

Categories: Genetic diseases

Aliases & Classifications for Uridine-Cytidineuria

MalaCards integrated aliases for Uridine-Cytidineuria:

Name: Uridine-Cytidineuria 57 6
Urctu 57

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
'nondisease'
incidental finding
based on a report of 3 individuals, 2 of whom had a second, complex phenotype (last curated june 2019)


Classifications:



External Ids:

OMIM 57 618477

Summaries for Uridine-Cytidineuria

OMIM : 57 Uridine-cytidineuria (URCTU) is an inborn error of metabolism comprising increased excretion of the pyrimidine nucleosides. This condition has been identified incidentally and may be a benign metabolic phenotype (summary by Wevers et al., 2019). (618477)

MalaCards based summary : Uridine-Cytidineuria, is also known as urctu. An important gene associated with Uridine-Cytidineuria is SLC28A1 (Solute Carrier Family 28 Member 1).

Related Diseases for Uridine-Cytidineuria

Symptoms & Phenotypes for Uridine-Cytidineuria

Symptoms via clinical synopsis from OMIM:

57
Metabolic Features:
uridine-cytidineuria

Laboratory Abnormalities:
elevated uridine and cytidine in urine

Clinical features from OMIM:

618477

Drugs & Therapeutics for Uridine-Cytidineuria

Search Clinical Trials , NIH Clinical Center for Uridine-Cytidineuria

Genetic Tests for Uridine-Cytidineuria

Anatomical Context for Uridine-Cytidineuria

Publications for Uridine-Cytidineuria

Articles related to Uridine-Cytidineuria:

# Title Authors PMID Year
1
Deficiency of perforin and hCNT1, a novel inborn error of pyrimidine metabolism, associated with a rapidly developing lethal phenotype due to multi-organ failure. 38 8 71
30658162 2019
2
Functional disruption of pyrimidine nucleoside transporter CNT1 results in a novel inborn error of metabolism with high excretion of uridine and cytidine. 8 71
30847922 2019
3
Functional analysis of the human concentrative nucleoside transporter-1 variant hCNT1S546P provides insight into the sodium-binding pocket. 8 71
21998139 2012
4
Functional and genetic diversity in the concentrative nucleoside transporter, CNT1, in human populations. 71
14978229 2004

Variations for Uridine-Cytidineuria

ClinVar genetic disease variations for Uridine-Cytidineuria:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 SLC28A1 NM_001321721.2(SLC28A1): c.1581+7981T> C single nucleotide variant Affects 15:85486730-85486730 15:84943499-84943499
2 SLC28A1 NM_001287761.1(SLC28A1): c.1084-7980C> T single nucleotide variant Affects 15:85478696-85478696 15:84935465-84935465
3 SLC28A1 NM_001321721.2(SLC28A1): c.1581+9066G> A single nucleotide variant Affects 15:85487815-85487815 15:84944584-84944584

Expression for Uridine-Cytidineuria

Search GEO for disease gene expression data for Uridine-Cytidineuria.

Pathways for Uridine-Cytidineuria

GO Terms for Uridine-Cytidineuria

Sources for Uridine-Cytidineuria

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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