MCID: ORT008
MIFTS: 58

Orotic Aciduria malady

Genetic diseases, Blood diseases, Rare diseases categories
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Summaries for Orotic Aciduria

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8Disease Ontology, 65Wikipedia, 47OMIM, 33MalaCards
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Wikipedia:65 Orotic aciduria refers to an excessive excretion of orotic acid in urine. It causes a characteristic... more...

MalaCards: Orotic Aciduria, also known as hereditary orotic aciduria, is related to lysinuric protein intolerance and argininosuccinic aciduria, and has symptoms including patent ductus arteriosus, broad nasal root and megaureter/hydronephrosis/pyeloureteral junction syndrome. An important gene associated with Orotic Aciduria is UMPS (uridine monophosphate synthetase), and among its related pathways are Alanine and aspartate metabolism and Alanine, aspartate and glutamate metabolism. The compounds orotidine and n-acetylglutamate have been mentioned in the context of this disorder. Affiliated tissues include liver, testes and b cells, and related mouse phenotype mortality/aging.

Disease Ontology:8 A pyrimidine metabolic disorder that is characterized by an excessive secretion of orotic acid in urine.

Description from OMIM:47 258900

Aliases & Classifications for Orotic Aciduria

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8Disease Ontology, 9diseasecard, 20GeneTests, 22GTR, 47OMIM, 45Novoseek, 49Orphanet, 62UMLS, 36MESH via Orphanet, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet, 63UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Blood diseases


Characteristics (Orphanet epidemiological data):

49
hereditary orotic aciduria:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy; Age of death: Any age


Aliases & Descriptions:

orotic aciduria 8 9 20 22 47 45 62
hereditary orotic aciduria 49 62
uridine monophosphate synthetase deficiency 49
orotidylic decarboxylase deficiency 49
oroticaciduria 49


External Ids:

Disease Ontology8 DOID:0050833
OMIM47 258900
MESH via Orphanet36 C537136
ICD10 via Orphanet26 D53.0
SNOMED-CT via Orphanet59 16242007, 69525003, 47641009 124277009, 90093009, more
UMLS via Orphanet63 C0220987, C0268130

Related Diseases for Orotic Aciduria

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17GeneCards, 18GeneDecks
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Diseases in the Orotic Aciduria family:

Orotic Aciduria Type 1

Diseases related to Orotic Aciduria via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 38)
idRelated DiseaseScoreTop Affiliating Genes
1lysinuric protein intolerance30.5OTC, ASL, ASS1
2argininosuccinic aciduria30.4OTC, ASL
3urea cycle disorder30.3ASL, ASS1
4ornithine carbamoyltransferase deficiency30.2ASS1, ASL, DPYD, OTC
5hepatocellular carcinoma30.2OTC, DPYD, ASS1
6orotic aciduria type 110.7
7hereditary orotic aciduria without megaloblastic anaemia10.4
8hyperuricemia10.2
9lesch-nyhan syndrome10.2
10homocystinuria10.2
11short bowel syndrome10.2
12xeroderma pigmentosum10.2
13megaloblastic anemia10.2
14congenital heart disease10.2
15hepatic encephalopathy10.2
16hepatitis10.2
17herpes simplex10.2
18reye syndrome10.1OTC
19cystinuria10.1OTC
20purine nucleoside phosphorylase deficiency10.0
21adenosine deaminase deficiency10.0
22carbamoyl phosphate synthetase i deficiency disease10.0OTC, ASS1
23propionic acidemia10.0ASS1, OTC
24rectal neoplasm10.0DPYD, UMPS
25brain disease10.0OTC, DPYD
26neutropenia10.0UMPS, DPYD
27eye disease10.0OTC, OAT
28hyperargininemia10.0OTC, ASL, ASS1
29citrullinemia10.0ASS1, ASL, OTC
30gastric adenocarcinoma10.0DPYD, ODC1
31kidney cancer10.0UMPS, DPYD, ASS1
32non-small cell lung carcinoma10.0UMPS, DPYD, ODC1
33stomach cancer10.0UMPS, DPYD, ODC1
34colon cancer10.0ODC1, DPYD, UMPS
35tongue squamous cell carcinoma10.0UMPS, DPYD, ODC1
36colorectal cancer9.9ODC1, DPYD, UMPS
37hyperammonemia multi-gene panels9.9OTC, ASL, ASS1, OAT
38metabolic syndrome x9.9OAT, ASS1, DPYD, OTC

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



Diseases related to orotic aciduria

Symptoms for Orotic Aciduria

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Sources:
47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

258900

Clinical features from OMIM:

258900

Symptoms:

49 (show all 16)
  • patent ductus arteriosus
  • broad nasal root
  • megaureter/hydronephrosis/pyeloureteral junction syndrome
  • downslanted palpebral fissures/anti-mongoloid slanting palpebral fissures
  • abnormal toenails
  • anaemia
  • immunodeficiency/increased susceptibility to infections/recurrent infections
  • low set ears/posteriorly rotated ears
  • autosomal recessive inheritance
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • storage liver disease
  • splenomegaly
  • hip dislocation/dysplasia/coxa valga/coxa vara/coxa plana
  • repeat respiratory infections
  • aminoacid metabolism anomalies/aminoaciduria
  • hypertelorism

Drugs & Therapeutics for Orotic Aciduria

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Sources:
42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Orotic Aciduria

Search NIH Clinical Center for Orotic Aciduria

Genetic Tests for Orotic Aciduria

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20GeneTests, 22GTR
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Genetic tests related to Orotic Aciduria:

id Genetic test Affiliating Genes
1 Orotic Aciduria20 22 UMPS

Anatomical Context for Orotic Aciduria

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33MalaCards
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MalaCards organs/tissues related to Orotic Aciduria:

33
Liver, Testes, B cells, Heart

Animal Models for Orotic Aciduria or affiliated genes

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Sources:
37MGI
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MGI Mouse Phenotypes related to Orotic Aciduria:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107687.7OTC, ASL, ASS1, ODC1, OAT

Publications for Orotic Aciduria

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Sources:
52PubMed
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Articles related to Orotic Aciduria:

(show top 50)    (show all 75)
idTitleAuthorsYear
1
A Caenorhabditis elegans model of orotic aciduria reveals enlarged lysosome-related organelles in embryos lacking umps-1 function. (20148972)
2010
2
Japanese black cattle with orotic aciduria detected by gas-chromatography/mass-spectrometry. (17409652)
2007
3
Decreased fluorouracil cytotoxic effect on EB-virus transformed lymphocytes from hereditary orotic aciduria. (10851269)
2000
4
Uracil phosphoribosyltransferase activity in hereditary orotic aciduria. (10404744)
1999
5
A rapid and simple screening method for detection of orotic aciduria by capillary zone electrophoresis. (9086295)
1997
6
Benign persistent orotic aciduria and the possibility of misdiagnosis of ornithine carbamoyltransferase deficiency. (9266354)
1997
7
Pyrimidine metabolism in hereditary orotic aciduria. (9061575)
1997
8
Mutation of ornithine transcarbamylase (H136R) in a girl with severe intermittent orotic aciduria but normal enzyme activity. (9266387)
1997
9
Molecular cloning of the human UMP synthase gene and characterization of point mutations in two hereditary orotic aciduria families. (9042911)
1997
10
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
11
Quantitative analysis of amniotic fluid pyrimidines for the prenatal diagnosis of hereditary orotic aciduria. (8295404)
1993
12
Orotic aciduria fibroblasts express a labile form of UMP synthase. (2475503)
1989
13
Orotic aciduria due to arginine deprivation: changes in the levels of carbamoyl phosphate and of other urea cycle intermediates in mouse liver. (2778543)
1989
14
Hypogammaglobulinemia in orotic aciduria. (2754565)
1989
15
Uridine-responsive hypogammaglobulinemia and congenital heart disease in a patient with hereditary orotic aciduria. (3183846)
1988
16
Urinary purines, pyrimidines and nucleosides in uridine-treated orotic aciduria. (3390959)
1988
17
Analysis of UMP synthase gene and mRNA structure in hereditary orotic aciduria fibroblasts. (2837086)
1988
18
Effect of glycine on the induction of orotic aciduria and urinary bladder tumorigenesis in the rat. (3616403)
1987
19
An arginine-deficient diet in humans does not evoke hyperammonemia or orotic aciduria. (3668688)
1987
20
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
21
Deficiency of UMP synthase in dairy cattle: a model for hereditary orotic aciduria. (2448544)
1987
22
Orotic aciduria and species specificity. (6384838)
1984
23
Absence of immune deficiency in hereditary orotic aciduria. (6717503)
1984
24
Cellular immune deficiency in two siblings with hereditary orotic aciduria. (6828110)
1983
25
Hereditary orotic aciduria: a defect of pyrimidine metabolism with cellular immunodeficiency. (6606448)
1983
26
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
27
Neonatal diagnosis of orotic aciduria: an experience with one family. (6848734)
1983
28
Orotic aciduria in lysinuric protein intolerance: dependence on the urea cycle intermediates. (7254935)
1981
29
Orotic aciduria caused by feeding excess lysine to growing rats. (6793701)
1981
30
Orotic aciduria and increased nitrogen catabolism in rats. (501442)
1979
31
Factors affecting amino acid induced orotic aciduria in rats. (722348)
1978
32
Amino acid induced orotic aciduria. (632945)
1978
33
Orotic aciduria in the female rat and its relation to dietary arginine. (671096)
1978
34
Arginine deficiency and orotic aciduria in mammals. (1208539)
1975
35
Determination of urinary carbamylaspartate and dihydro-orotate in normal subjects and in patients with hereditary orotic aciduria. (1104727)
1975
36
The orotic aciduria of pregnancy. (4697170)
1973
37
Orotic aciduria and arginine deficiency. (4582888)
1973
38
Partial ornithine carbamyl transferase deficiency: an inborn error of the urea cycle presenting as orotic aciduria in a male infant. (5074751)
1972
39
Hereditary orotic aciduria. (5520435)
1970
40
Orotic aciduria. (4893711)
1969
41
Hereditary orotic aciduria with normal growth and development. (5353014)
1969
42
Hereditary orotic aciduria: long-term therapy with uridine and a trial of uracil. (5347440)
1969
43
Enzyme studies on diploid cell strains developed from patients with hereditary orotic aciduria. (6021362)
1967
44
Megaloblastic anemia and orotic aciduria. A hereditary disorder of pyrimidine metabolism responsive to uridine. (6026580)
1967
45
HEREDITARY OROTIC ACIDURIA--PYRIMIDINE AUXOTROPHISM IN MAN. (14247288)
1965
46
HYPOCHOLESTEROLAEMIA AND OROTIC ACIDURIA DURING TREATMENT WITH 6-AZAURIDINE. (14243057)
1965
47
HEREDITARY OROTIC ACIDURIA AND MEGALOBLASTIC ANAEMIA: A SECOND CASE, WITH RESPONSE TO URIDINE. (14243056)
1965
48
Studies on congenital orotic aciduria: comparison of orotic acid metabolism in microorganisms. (13989510)
1963
49
The uricosuria and orotic aciduria induced by 6-azauridine. (13891472)
1961
50
PYRIMIDINE METABOLISM IN MAN. IV. THE ENZYMATIC DEFECT OF OROTIC ACIDURIA. (16695858)
1961

Variations for Orotic Aciduria

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Sources:
64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Orotic Aciduria:

64
id Symbol AA change Variation ID SNP ID
1UMPSp.Arg96GlyVAR_006807
2UMPSp.Val109GlyVAR_006808
3UMPSp.Gly429ArgVAR_006810

Clinvar genetic disease variations for Orotic Aciduria:

1
id Gene Name Type Significance SNP ID Assembly Location
1UMPSNM_000373.3(UMPS): c.286A> G (p.Arg96Gly)single nucleotide variantPathogenicrs121917890GRCh37Chr 3, 124454069: 124454069
2UMPSNM_000373.3(UMPS): c.326T> G (p.Val109Gly)single nucleotide variantPathogenicrs121917892GRCh37Chr 3, 124456430: 124456430

Expression for genes affiliated with Orotic Aciduria

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Orotic Aciduria

Search GEO for disease gene expression data for Orotic Aciduria.

Pathways for genes affiliated with Orotic Aciduria

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Sources:
50PathCards, 38NCBI BioSystems Database, 30KEGG, 55Reactome, 51PharmGKB, 60Thomson Reuters
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Pathways related to Orotic Aciduria according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.5ASL, ASS1
29.5ASS1, ASL
3
Show member pathways
9.5UMPS, DPYD
4
Show member pathways
purine deoxyribonucleosides degradation38
purine nucleotides degradation38
adenine and adenosine salvage II38
adenine and adenosine salvage III38
oxidized GTP and dGTP detoxification38
urate biosynthesis/inosine 5-phosphate degradation38
adenine and adenosine salvage I38
purine ribonucleosides degradation to ribose-1-phosphate38
inosine-5-phosphate biosynthesis38
guanosine nucleotides degradation38
guanine and guanosine salvage38
adenosine nucleotides degradation38
5-aminoimidazole ribonucleotide biosynthesis38
9.5UMPS, DPYD
5
Show member pathways
9.5UMPS, DPYD
6
Show member pathways
L-serine degradation38
pentose phosphate pathway (oxidative branch)38
formaldehyde oxidation II (glutathione-dependent)38
9.1OTC, ASL, ASS1
7
Show member pathways
glutamate biosynthesis II38
arginine biosynthesis IV38
8.3OTC, ASL, ASS1, OAT
8
Show member pathways
creatine-phosphate biosynthesis38
glycine degradation (creatine biosynthesis)38
putrescine biosynthesis III38
spermidine biosynthesis I38
tryptophan degradation via kynurenine38
spermine biosynthesis38
urea cycle38
S-methyl-5-thio-alpha-D-ribose 1-phosphate degradation I38
tyrosine degradation I38
L-carnitine biosynthesis38
methylthiopropionate biosynthesis38
2-oxoglutarate decarboxylation to succinyl-CoA38
S-methyl-5-thioadenosine degradation II38
7.7OAT, ODC1, ASS1, ASL, OTC
9
Show member pathways
citrulline-nitric oxide cycle38
arginine degradation I (arginase pathway)38
proline degradation38
glutamine degradation I38
proline biosynthesis I38
superpathway of citrulline metabolism38
proline biosynthesis II (from arginine)38
citrulline biosynthesis38
arginine degradation VI (arginase 2 pathway)38
Urea cycle and metabolism of amino groups38
asparagine biosynthesis I38
4-hydroxyproline degradation I38
citrulline degradation38
7.7OAT, ODC1, ASS1, ASL, OTC
10
Show member pathways
6.7OAT, ODC1, ASS1, ASL, DPYD, UMPS

Compounds for genes affiliated with Orotic Aciduria

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45Novoseek, 24HMDB, 51PharmGKB, 29IUPHAR, 11DrugBank, 3BitterDB
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Compounds related to Orotic Aciduria according to GeneCards/GeneDecks:

(show top 50)    (show all 59)
idCompoundScoreTop Affiliating Genes
1orotidine45 2411.1UMPS, OTC
2n-acetylglutamate4510.0OTC, ASL
3sodium phenylbutyrate519.9OTC, ASS1
4Canavaninosuccinate249.9ASS1, ASL
55-chloro-2,4-dihydroxypyridine459.9DPYD, UMPS
6potassium oxonate459.9DPYD, UMPS
7argininosuccinic acid45 2410.9ASL, ASS1
8l-citrulline29 1110.9OTC, ASS1
95-fluoro-2-deoxyuridine-5-monophosphate459.8UMPS, DPYD
10oxo459.8DPYD, UMPS
11tegafur45 5110.8DPYD, UMPS
12guanidinoacetate459.8ASS1, ASL
13dihydrouracil45 2410.8UMPS, DPYD
14poly u459.8UMPS, DPYD
15prpp459.7UMPS, DPYD
16fudr459.7DPYD, UMPS
17l-arginine29 24 1111.7ASL, ASS1
18adenylosuccinate459.7DPYD, ASS1
19fluorouracil51 1110.7DPYD, UMPS
20iron-sulfur459.6OTC, DPYD
21malate459.6OTC, ASL
22leucovorin45 51 1111.6UMPS, DPYD
23l-ornithine29 1110.6OTC, OAT
24sodium benzoate51 310.5ASS1, ASL, OTC
25phenylacetic acid51 45 2411.5OTC, ASL, ASS1
26ammonium459.5OTC, ASL, ASS1
27citrulline45 2410.5OTC, ASL, ASS1
28ecori459.5OAT, OTC
29pyrimidine45 2410.5DPYD, UMPS, OTC
30orotidine 5-monophosphate459.4UMPS, DPYD, ODC1
31quinone45 2410.4DPYD, ODC1
325fluorouracil459.4DPYD, UMPS, OTC
33uridine45 24 1111.3UMPS, DPYD, ODC1
34thymidylate459.3UMPS, DPYD, ODC1
35pyridoxal 5-phosphate459.3ODC1, OAT
36lactate459.2ODC1, UMPS, OTC
37delta(1)pyrroline-5-carboxylate459.2OAT, ASS1, OTC
38putrescine45 29 24 1112.1OAT, ODC1, OTC
39phosphoenolpyruvate45 1110.1OTC, ASS1, OAT
40Pyridoxal 5'-phosphate249.0ODC1, OAT
41nitric oxide45 24 1110.9ODC1, ASS1, ASL, OTC
42urea45 24 1110.7OAT, ASS1, ASL, OTC
43thymidine45 249.7UMPS, DPYD, ODC1
44glutamine458.6OAT, ODC1, ASL, OTC
45carbamoyl phosphate458.3OAT, ASS1, ASL, UMPS, OTC
46orotic acid45 24 1110.2OTC, UMPS, DPYD, ODC1, OAT
47arginine458.2OAT, ODC1, ASS1, ASL, OTC
48glutamate458.1OAT, ODC1, ASS1, ASL, OTC
49aspartate457.8OAT, ODC1, ASS1, ASL, UMPS, OTC
50ornithine45 248.6OAT, ODC1, ASS1, ASL, DPYD, OTC

GO Terms for genes affiliated with Orotic Aciduria

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16Gene Ontology
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Cellular components related to Orotic Aciduria according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cytosolGO:0058298.0UMPS, DPYD, ASL, ASS1, ODC1

Biological processes related to Orotic Aciduria according to GeneCards/GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1arginine biosynthetic processGO:0065269.5ASS1, OTC
2nucleobase-containing small molecule metabolic processGO:0550869.5UMPS, DPYD
3UMP biosynthetic processGO:0062229.4UMPS, DPYD
4pyrimidine nucleobase metabolic processGO:0062069.2UMPS, DPYD
5urea cycleGO:0000509.2OTC, ASL, ASS1
6cellular nitrogen compound metabolic processGO:0346417.9OTC, ASL, ASS1, ODC1, OAT
7small molecule metabolic processGO:0442816.9OAT, ODC1, ASS1, ASL, DPYD, UMPS

Products for genes affiliated with Orotic Aciduria

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Orotic Aciduria

About this section
4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet