MCID: ORT008
MIFTS: 48

Orotic Aciduria malady

Categories: Genetic diseases, Rare diseases, Metabolic diseases, Blood diseases

Aliases & Classifications for Orotic Aciduria

About this section
Sources:
11Disease Ontology, 12diseasecard, 13DISEASES, 24GeneTests, 27GTR, 31ICD10 via Orphanet, 37MedGen, 39MeSH, 40MESH via Orphanet, 48NIH Rare Diseases, 50Novoseek, 52OMIM, 54Orphanet, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Orotic Aciduria:

Name: Orotic Aciduria 52 11 24 70 27 12 50 13
Hereditary Orotic Aciduria 48 54 68
Oroticaciduria 24 54 27
Orotidylic Pyrophosphorylase and Orotidylic Decarboxylase Deficiency 48 70
Uridine Monophosphate Synthetase Deficiency 48 54
Uridine Monophosphate Synthase Deficiency 48 70
Oroticaciduria 1 48 70
Umps Deficiency 48 70
Orotate Phosphoribosyltransferase and Orotidylic Decarboxylase Deficiency 70
Orotate Phosphoribosyltransferase and Omp Decarboxylase Deficiency 48
Orotidylic Decarboxylase Deficiency 54
 
Hereditary Orotic Aciduria, Type 1 68
Orotic Aciduria Hereditary 50
Ump Synthtase Deficiency 48
Ump Synthase Deficiency 70
Oprt and Odc Deficiency 70
Orotic Aciduria Type 1 48
Orotic Aciduria Ii 68
Orotic Aciduria I 70
Orotic Aciduria 1 70
Orac1 70
Umps 48

Characteristics:

Orphanet epidemiological data:

54
hereditary orotic aciduria:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: any age

HPO:

64
orotic aciduria:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 258900
Disease Ontology11 DOID:0050833
Orphanet54 ORPHA30
ICD10 via Orphanet31 E79.8
MESH via Orphanet40 C537136
UMLS via Orphanet69 C0220987, C0268130
MeSH39 D011686

Summaries for Orotic Aciduria

About this section
OMIM:52 Orotic aciduria is a rare autosomal recessive disorder characterized by megaloblastic anemia and orotic acid... (258900) more...

MalaCards based summary: Orotic Aciduria, also known as hereditary orotic aciduria, is related to dihydropyrimidine dehydrogenase deficiency and hereditary orotic aciduria without megaloblastic anaemia, and has symptoms including aminoaciduria, cognitive impairment and hypertelorism. An important gene associated with Orotic Aciduria is UMPS (Uridine Monophosphate Synthetase), and among its related pathways are Alanine, aspartate and glutamate metabolism and Alanine and aspartate metabolism. Affiliated tissues include t cells, bone and liver, and related mouse phenotype integument.

Disease Ontology:11 A pyrimidine metabolic disorder that is characterized by an excessive secretion of orotic acid in urine.

UniProtKB/Swiss-Prot:70 Orotic aciduria 1: A disorder of pyrimidine metabolism resulting in megaloblastic anemia and orotic acid crystalluria that is frequently associated with some degree of physical and mental retardation. A minority of cases have additional features, particularly congenital malformations and immune deficiencies.

NIH Rare Diseases:48 Orotic aciduria type I, also known as hereditary orotic aciduria, is a condition that occurs when the body cannot make a compound called UMP synthetase, which is an important enzyme that produces the chemicals that make up DNA.  The main symptoms of this disease are megaloblastic anemia, as well as delays in physical and intellectual development.  Orotic aciduria is caused by inherited changes (mutations) in the UMPS gene.  Treatment consists of taking supplements of a compound called uridine. Last updated: 4/2/2012

Wikipedia:71 Orotic aciduria is a disease yielding an excessive excretion of orotic acid in urine. It causes a... more...

Related Diseases for Orotic Aciduria

About this section

Graphical network of the top 20 diseases related to Orotic Aciduria:



Diseases related to orotic aciduria

Symptoms & Phenotypes for Orotic Aciduria

About this section

Symptoms by clinical synopsis from OMIM:

258900

Clinical features from OMIM:

258900

Human phenotypes related to Orotic Aciduria:

 64 54 (show all 28)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 aminoaciduria64 54 hallmark (90%) Very frequent (99-80%) HP:0003355
2 cognitive impairment64 hallmark (90%) HP:0100543
3 hypertelorism64 54 typical (50%) Frequent (79-30%) HP:0000316
4 low-set, posteriorly rotated ears64 54 typical (50%) Frequent (79-30%) HP:0000368
5 wide nasal bridge64 54 typical (50%) Frequent (79-30%) HP:0000431
6 downslanted palpebral fissures64 54 typical (50%) Frequent (79-30%) HP:0000494
7 patent ductus arteriosus64 54 typical (50%) Frequent (79-30%) HP:0001643
8 splenomegaly64 54 typical (50%) Frequent (79-30%) HP:0001744
9 recurrent respiratory infections64 54 typical (50%) Frequent (79-30%) HP:0002205
10 abnormality of the hip bone64 typical (50%) HP:0003272
11 abnormality of the toenails64 54 typical (50%) Frequent (79-30%) HP:0008388
12 abnormality of the upper urinary tract64 typical (50%) HP:0010935
13 failure to thrive64 rare (5%) HP:0001508
14 ventricular septal defect64 rare (5%) HP:0001629
15 atria septal defect64 rare (5%) HP:0001631
16 hematuria64 HP:0000790
17 global developmental delay64 54 Very frequent (99-80%) HP:0001263
18 oroticaciduria64 54 Very frequent (99-80%) HP:0003218
19 reduced orotidine 5-prime phosphate decarboxylase activity64 HP:0003267
20 pyrimidine-responsive megaloblastic anemia64 HP:0003339
21 orotic acid crystalluria64 54 Very frequent (99-80%) HP:0003526
22 poikilocytosis64 HP:0004447
23 folate-unresponsive megaloblastic anemia64 HP:0004826
24 impaired t cell function64 54 Frequent (79-30%) HP:0005435
25 anisocytosis64 HP:0011273
26 abnormality of the ureter54 Frequent (79-30%)
27 hip dysplasia54 Frequent (79-30%)
28 anemia54 Very frequent (99-80%)

MGI Mouse Phenotypes related to Orotic Aciduria according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107718.1ASL, ASS1, OTC, SLC7A7

Drugs & Therapeutics for Orotic Aciduria

About this section

Interventional clinical trials:

idNameStatusNCT IDPhase
1Open-Label Study of Uridine Triacetate in Pediatric Patients With Hereditary Orotic AciduriaActive, not recruitingNCT02110147Phase 2

Search NIH Clinical Center for Orotic Aciduria

Genetic Tests for Orotic Aciduria

About this section

Genetic tests related to Orotic Aciduria:

id Genetic test Affiliating Genes
1 Orotic Aciduria27 24 UMPS
2 Oroticaciduria27

Anatomical Context for Orotic Aciduria

About this section

MalaCards organs/tissues related to Orotic Aciduria:

36
T cells, Bone, Liver, Testes, B cells, Heart

Publications for Orotic Aciduria

About this section

Articles related to Orotic Aciduria:

(show top 50)    (show all 79)
idTitleAuthorsYear
1
In brief: Uridine triacetate (Xuriden) for hereditary orotic aciduria. (27027693)
2016
2
Hereditary Orotic Aciduria and the Excretion of Orotidine. (27574833)
2016
3
Hereditary Orotic Aciduria with Epilepsy and without Megaloblastic Anemia. (25757096)
2015
4
A Caenorhabditis elegans model of orotic aciduria reveals enlarged lysosome-related organelles in embryos lacking umps-1 function. (20148972)
2010
5
Orotic aciduria and uridine monophosphate synthase: a reappraisal. (19562503)
2009
6
Japanese black cattle with orotic aciduria detected by gas-chromatography/mass-spectrometry. (17409652)
2007
7
Orotic aciduria and plasma urea cycle-related amino acid alterations in short bowel syndrome, evoked by an arginine-free diet. (15449570)
2004
8
Decreased fluorouracil cytotoxic effect on EB-virus transformed lymphocytes from hereditary orotic aciduria. (10851269)
2000
9
Uracil phosphoribosyltransferase activity in hereditary orotic aciduria. (10404744)
1999
10
Hereditary orotic aciduria heterozygotes accompanied with neurological symptoms. (9710947)
1998
11
Mutation of ornithine transcarbamylase (H136R) in a girl with severe intermittent orotic aciduria but normal enzyme activity. (9266387)
1997
12
A rapid and simple screening method for detection of orotic aciduria by capillary zone electrophoresis. (9086295)
1997
13
Benign persistent orotic aciduria and the possibility of misdiagnosis of ornithine carbamoyltransferase deficiency. (9266354)
1997
14
Pyrimidine metabolism in hereditary orotic aciduria. (9061575)
1997
15
Molecular cloning of the human UMP synthase gene and characterization of point mutations in two hereditary orotic aciduria families. (9042911)
1997
16
Nutritional and metabolic effects and significance of mild orotic aciduria during dietary supplementation with arginine or its organic salts after trauma injury in rats. (9225832)
1997
17
Nucleotide pool imbalances in the livers of patients with urea cycle disorders associated with increased levels of orotic aciduria. (7773204)
1995
18
Decreased hyperammonaemia and orotic aciduria due to inactivation of ornithine aminotransferase in mice with a hereditary abnormal ornithine carbamoyltransferase. (7707692)
1994
19
Quantitative analysis of amniotic fluid pyrimidines for the prenatal diagnosis of hereditary orotic aciduria. (8295404)
1993
20
Mild orotic aciduria and uricosuria in severe trauma victims. (1902349)
1991
21
First report of management and outcome of pregnancies associated with hereditary orotic aciduria. (1776631)
1991
22
Urinary excretion of purines in sheep with experimental orotic aciduria. (1907065)
1991
23
Orotic aciduria due to arginine deprivation: changes in the levels of carbamoyl phosphate and of other urea cycle intermediates in mouse liver. (2778543)
1989
24
Hypogammaglobulinemia in orotic aciduria. (2754565)
1989
25
Orotic aciduria fibroblasts express a labile form of UMP synthase. (2475503)
1989
26
Analysis of UMP synthase gene and mRNA structure in hereditary orotic aciduria fibroblasts. (2837086)
1988
27
Hepatic encephalopathy and orotic aciduria associated with hepatocellular carcinoma in a noncirrhotic liver. (2828214)
1988
28
Uridine-responsive hypogammaglobulinemia and congenital heart disease in a patient with hereditary orotic aciduria. (3183846)
1988
29
Urinary purines, pyrimidines and nucleosides in uridine-treated orotic aciduria. (3390959)
1988
30
Effect of glycine on the induction of orotic aciduria and urinary bladder tumorigenesis in the rat. (3616403)
1987
31
An arginine-deficient diet in humans does not evoke hyperammonemia or orotic aciduria. (3668688)
1987
32
Deficiency of UMP synthase in dairy cattle: a model for hereditary orotic aciduria. (2448544)
1987
33
Increase of protein synthesis by uridine supplement in lectin-stimulated peripheral blood lymphocytes and EB virus-transformed B cell line of hereditary orotic aciduria type I. (2829387)
1987
34
The role of hepatic ornithine transcarbamylase deficiency in the orotic aciduria of pregnant mice. (3732588)
1986
35
Orotic aciduria, homocystinuria, formiminoglutamic aciduria and megaloblastosis associated with the formiminotransferase/cyclodeaminase deficiency. (3728187)
1986
36
Hereditary orotic aciduria: further biochemistry. (3487927)
1986
37
Orotic aciduria and species specificity. (6384838)
1984
38
Absence of immune deficiency in hereditary orotic aciduria. (6717503)
1984
39
Cellular immune deficiency in two siblings with hereditary orotic aciduria. (6828110)
1983
40
Hereditary orotic aciduria: a defect of pyrimidine metabolism with cellular immunodeficiency. (6606448)
1983
41
Hereditary orotic aciduria, Lesch-Nyhan syndrome, and xeroderma pigmentosum probed by herpes simplex virus: 125I-iododeoxycytidine incorporation as an assay for viral growth. (6826658)
1983
42
Neonatal diagnosis of orotic aciduria: an experience with one family. (6848734)
1983
43
Argininemia: report of a new case and mechanisms of orotic aciduria and hyperammonemia. (7164892)
1982
44
Orotic aciduria caused by feeding excess lysine to growing rats. (6793701)
1981
45
Orotic aciduria in lysinuric protein intolerance: dependence on the urea cycle intermediates. (7254935)
1981
46
Purine and pyrimidine metabolism in hereditary orotic aciduria: some unexpected effects of allopurinol. (6775961)
1980
47
Orotic aciduria and increased nitrogen catabolism in rats. (501442)
1979
48
Factors affecting amino acid induced orotic aciduria in rats. (722348)
1978
49
Amino acid induced orotic aciduria. (632945)
1978
50
Orotic aciduria in the female rat and its relation to dietary arginine. (671096)
1978

Variations for Orotic Aciduria

About this section

UniProtKB/Swiss-Prot genetic disease variations for Orotic Aciduria:

70
id Symbol AA change Variation ID SNP ID
1UMPSp.Arg96GlyVAR_006807rs121917890
2UMPSp.Val109GlyVAR_006808rs121917892
3UMPSp.Gly429ArgVAR_006810rs121917891

Clinvar genetic disease variations for Orotic Aciduria:

5
id Gene Variation Type Significance SNP ID Assembly Location
1UMPSNM_000373.3(UMPS): c.638G> C (p.Gly213Ala)SNVdrug responsers1801019GRCh37Chr 3, 124456742: 124456742
2UMPSNM_000373.3(UMPS): c.326T> G (p.Val109Gly)SNVPathogenicrs121917892GRCh37Chr 3, 124456430: 124456430

Expression for genes affiliated with Orotic Aciduria

About this section
Search GEO for disease gene expression data for Orotic Aciduria.

Pathways for genes affiliated with Orotic Aciduria

About this section

GO Terms for genes affiliated with Orotic Aciduria

About this section

Biological processes related to Orotic Aciduria according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1arginine biosynthetic process via ornithineGO:004245010.1ASL, OTC
2arginine biosynthetic processGO:00065269.7ASL, ASS1
3liver developmentGO:00018899.7ASS1, OTC
4midgut developmentGO:00074949.7ASS1, OTC
5response to zinc ionGO:00100439.5ASS1, OTC
6urea cycleGO:00000508.7ASL, ASS1, OTC

Molecular functions related to Orotic Aciduria according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1amino acid bindingGO:00165979.2ASS1, OTC

Sources for Orotic Aciduria

About this section
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