URCTU
MCID: URD003
MIFTS: 16

Uridine-Cytidineuria (URCTU)

Categories: Genetic diseases, Metabolic diseases

Aliases & Classifications for Uridine-Cytidineuria

MalaCards integrated aliases for Uridine-Cytidineuria:

Name: Uridine-Cytidineuria 56 73 6
Urctu 56 73

Characteristics:

OMIM:

56
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)


HPO:

31
uridine-cytidineuria:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 56 618477
MeSH 43 D011686
SNOMED-CT via HPO 68 258211005

Summaries for Uridine-Cytidineuria

OMIM : 56 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 phenotypes are elevated urinary cytidine and elevated uridine in urine

UniProtKB/Swiss-Prot : 73 Uridine-cytidineuria: An autosomal recessive inborn error of metabolism characterized by increased urinary uridine and cytidine excretion. It is a likely benign metabolic trait without clinical manifestations.

Related Diseases for Uridine-Cytidineuria

Symptoms & Phenotypes for Uridine-Cytidineuria

Human phenotypes related to Uridine-Cytidineuria:

31
# Description HPO Frequency HPO Source Accession
1 elevated urinary cytidine 31 HP:0032573
2 elevated uridine in urine 31 HP:0032574

Symptoms via clinical synopsis from OMIM:

56
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. 61 56 6
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. 6 56
30847922 2019
3
Functional analysis of the human concentrative nucleoside transporter-1 variant hCNT1S546P provides insight into the sodium-binding pocket. 6 56
21998139 2012
4
Functional and genetic diversity in the concentrative nucleoside transporter, CNT1, in human populations. 6
14978229 2004

Variations for Uridine-Cytidineuria

ClinVar genetic disease variations for Uridine-Cytidineuria:

6 ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SLC28A1 NM_004213.5(SLC28A1):c.1636T>C (p.Ser546Pro)SNV Affects 634887 rs45584739 15:85486730-85486730 15:84943499-84943499
2 SLC28A1 NM_004213.5(SLC28A1):c.1528C>T (p.Arg510Cys)SNV Affects 634888 rs2242047 15:85478696-85478696 15:84935465-84935465
3 SLC28A1 NM_004213.5(SLC28A1):c.1682G>A (p.Arg561Gln)SNV Affects 634889 rs149246522 15:85487815-85487815 15:84944584-84944584

UniProtKB/Swiss-Prot genetic disease variations for Uridine-Cytidineuria:

73
# Symbol AA change Variation ID SNP ID
1 SLC28A1 p.Arg510Cys VAR_057196 rs2242047
2 SLC28A1 p.Ser546Pro VAR_061802 rs45584739
3 SLC28A1 p.Arg561Gln VAR_082636

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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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