MCID: ORT008
MIFTS: 59

Orotic Aciduria malady

Genetic diseases, Metabolic diseases, Blood diseases, Rare diseases categories

Summaries for Orotic Aciduria

About this section


OMIM:46 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 uridine monophosphate synthetase deficiency, is related to argininosuccinic aciduria and urea cycle disorder, and has symptoms including anemia, aminoaciduria and cognitive impairment. 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 heart, and related mouse phenotype mortality/aging.

Disease Ontology:9 A pyrimidine metabolic disorder that is characterized by an excessive secretion of orotic acid in urine.

Wikipedia:64 Orotic aciduria refers to an excessive excretion of orotic acid in urine. It causes a characteristic... more...

Aliases & Classifications for Orotic Aciduria

About this section
Sources:
9Disease Ontology, 10diseasecard, 21GeneTests, 23GTR, 46OMIM, 44Novoseek, 61UMLS, 48Orphanet, 35MESH via Orphanet, 27ICD10 via Orphanet, 62UMLS via Orphanet
See all sources

Orotic Aciduria, Aliases & Descriptions:

Name: Orotic Aciduria 9 10 21 23 46 44 61
Uridine Monophosphate Synthetase Deficiency 48 61
Orotidylic Decarboxylase Deficiency 48 61
 
Hereditary Orotic Aciduria 48 61
Oroticaciduria 48


Classifications:

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


Characteristics (Orphanet epidemiological data):

48
uridine monophosphate synthetase deficiency:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy; Age of death: Any age


External Ids:

Disease Ontology9 DOID:0050833
OMIM46 258900
MESH via Orphanet35 C537136
ICD10 via Orphanet27 D53.0
UMLS via Orphanet62 C0220987, C0268130

Related Diseases for Orotic Aciduria

About this section

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 39)
idRelated DiseaseScoreTop Affiliating Genes
1argininosuccinic aciduria30.7OTC, ASL
2urea cycle disorder30.6ASL, ASS1
3lysinuric protein intolerance30.6OTC, ASL, ASS1
4ornithine carbamoyltransferase deficiency29.9ASS1, ASL, DPYD, OTC
5orotic aciduria type 110.7
6hereditary orotic aciduria without megaloblastic anaemia10.4
7reye syndrome10.4OTC
8cystinuria10.4OTC
9hepatitis10.3
10carbamoyl phosphate synthetase i deficiency disease10.2OTC, ASS1
11propionic acidemia10.2ASS1, OTC
12hepatocellular carcinoma10.2
13hyperuricemia10.2
14lesch-nyhan syndrome10.2
15homocystinuria10.2
16xeroderma pigmentosum10.2
17short bowel syndrome10.2
18congenital heart disease10.2
19hepatic encephalopathy10.2
20herpes simplex10.2
21rectal neoplasm10.2DPYD, UMPS
22brain disease10.1OTC, DPYD
23neutropenia10.1UMPS, DPYD
24adenosine deaminase deficiency10.1
25purine nucleoside phosphorylase deficiency10.1
26spiradenoma10.1OTC, OAT
27hyperargininemia10.0OTC, ASL, ASS1
28citrullinemia10.0ASS1, ASL, OTC
29squamous cell carcinoma of the head and neck10.0DPYD, ODC1
30gastric adenocarcinoma10.0DPYD, ODC1
31kidney cancer9.9UMPS, DPYD, ASS1
32non-small cell lung carcinoma9.9UMPS, DPYD, ODC1
33stomach cancer9.9UMPS, DPYD, ODC1
34colonic benign neoplasm9.8ODC1, DPYD, UMPS
35tongue squamous cell carcinoma9.8UMPS, DPYD, ODC1
36liver cancer9.7OTC, DPYD, ASS1
37colorectal cancer9.7ODC1, DPYD, UMPS
38hyperammonemia multi-gene panels9.7OTC, ASL, ASS1, OAT
39metabolic syndrome x9.6OAT, ASS1, DPYD, OTC

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



Diseases related to orotic aciduria

Symptoms for Orotic Aciduria

About this section

Symptoms by clinical synopsis from OMIM:

258900

Clinical features from OMIM:

258900

Symptoms:

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

HPO human phenotypes related to Orotic Aciduria:

(show all 27)
id Description Frequency HPO Source Accession
1 anemia hallmark (90%) HP:0001903
2 aminoaciduria hallmark (90%) HP:0003355
3 cognitive impairment hallmark (90%) HP:0100543
4 hypertelorism typical (50%) HP:0000316
5 low-set, posteriorly rotated ears typical (50%) HP:0000368
6 wide nasal bridge typical (50%) HP:0000431
7 downslanted palpebral fissures typical (50%) HP:0000494
8 patent ductus arteriosus typical (50%) HP:0001643
9 splenomegaly typical (50%) HP:0001744
10 recurrent respiratory infections typical (50%) HP:0002205
11 abnormality of the hip bone typical (50%) HP:0003272
12 abnormality of the toenail typical (50%) HP:0008388
13 abnormality of the upper urinary tract typical (50%) HP:0010935
14 failure to thrive rare (5%) HP:0001508
15 ventricular septal defect rare (5%) HP:0001629
16 defect in the atrial septum rare (5%) HP:0001631
17 autosomal recessive inheritance HP:0000007
18 hematuria HP:0000790
19 global developmental delay HP:0001263
20 oroticaciduria HP:0003218
21 reduced orotidine 5-prime phosphate decarboxylase activity HP:0003267
22 pyrimidine-responsive megaloblastic anemia HP:0003339
23 orotic acid crystalluria HP:0003526
24 poikilocytosis HP:0004447
25 folate-unresponsive megaloblastic anemia HP:0004826
26 impaired t cell function HP:0005435
27 anisocytosis HP:0011273

Drugs & Therapeutics for Orotic Aciduria

About this section

Drug clinical trials:

Search ClinicalTrials for Orotic Aciduria

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 Aciduria21 23 UMPS

Anatomical Context for Orotic Aciduria

About this section

MalaCards organs/tissues related to Orotic Aciduria:

32
Liver, Testes, Heart, B cells

Animal Models for Orotic Aciduria or affiliated genes

About this section

MGI Mouse Phenotypes related to Orotic Aciduria:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107687.7OTC, ASL, ASS1, ODC1, OAT

Publications for Orotic Aciduria

About this section

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
The role of hepatic ornithine transcarbamylase deficiency in the orotic aciduria of pregnant mice. (3732588)
1986
23
Orotic aciduria and species specificity. (6384838)
1984
24
Absence of immune deficiency in hereditary orotic aciduria. (6717503)
1984
25
Cellular immune deficiency in two siblings with hereditary orotic aciduria. (6828110)
1983
26
Hereditary orotic aciduria: a defect of pyrimidine metabolism with cellular immunodeficiency. (6606448)
1983
27
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
28
Neonatal diagnosis of orotic aciduria: an experience with one family. (6848734)
1983
29
Orotic aciduria in lysinuric protein intolerance: dependence on the urea cycle intermediates. (7254935)
1981
30
Orotic aciduria caused by feeding excess lysine to growing rats. (6793701)
1981
31
Orotic aciduria and increased nitrogen catabolism in rats. (501442)
1979
32
Factors affecting amino acid induced orotic aciduria in rats. (722348)
1978
33
Amino acid induced orotic aciduria. (632945)
1978
34
Orotic aciduria in the female rat and its relation to dietary arginine. (671096)
1978
35
Arginine deficiency and orotic aciduria in mammals. (1208539)
1975
36
Determination of urinary carbamylaspartate and dihydro-orotate in normal subjects and in patients with hereditary orotic aciduria. (1104727)
1975
37
The orotic aciduria of pregnancy. (4697170)
1973
38
Orotic aciduria and arginine deficiency. (4582888)
1973
39
Partial ornithine carbamyl transferase deficiency: an inborn error of the urea cycle presenting as orotic aciduria in a male infant. (5074751)
1972
40
Hereditary orotic aciduria. (5520435)
1970
41
Orotic aciduria. (4893711)
1969
42
Hereditary orotic aciduria with normal growth and development. (5353014)
1969
43
Hereditary orotic aciduria: long-term therapy with uridine and a trial of uracil. (5347440)
1969
44
Enzyme studies on diploid cell strains developed from patients with hereditary orotic aciduria. (6021362)
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

About this section

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

63
id Symbol AA change Variation ID SNP ID
1UMPSp.Arg96GlyVAR_006807
2UMPSp.Val109GlyVAR_006808
3UMPSp.Gly429ArgVAR_006810

Clinvar genetic disease variations for Orotic Aciduria:

7
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

About this section
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

About this section

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 degradation37
purine nucleotides degradation37
adenine and adenosine salvage II37
adenine and adenosine salvage III37
oxidized GTP and dGTP detoxification37
urate biosynthesis/inosine 5-phosphate degradation37
adenine and adenosine salvage I37
purine ribonucleosides degradation to ribose-1-phosphate37
inosine-5-phosphate biosynthesis37
guanosine nucleotides degradation37
guanine and guanosine salvage37
adenosine nucleotides degradation37
5-aminoimidazole ribonucleotide biosynthesis37
9.5UMPS, DPYD
5
Show member pathways
9.5UMPS, DPYD
6
Show member pathways
L-serine degradation37
pentose phosphate pathway (oxidative branch)37
formaldehyde oxidation II (glutathione-dependent)37
9.1OTC, ASL, ASS1
7
Show member pathways
glutamate biosynthesis II37
arginine biosynthesis IV37
8.3OTC, ASL, ASS1, OAT
8
Show member pathways
creatine-phosphate biosynthesis37
glycine degradation (creatine biosynthesis)37
putrescine biosynthesis III37
spermidine biosynthesis I37
tryptophan degradation via kynurenine37
spermine biosynthesis37
urea cycle37
S-methyl-5-thio-alpha-D-ribose 1-phosphate degradation I37
tyrosine degradation I37
L-carnitine biosynthesis37
methylthiopropionate biosynthesis37
2-oxoglutarate decarboxylation to succinyl-CoA37
S-methyl-5-thioadenosine degradation II37
7.7OAT, ODC1, ASS1, ASL, OTC
9
Show member pathways
citrulline-nitric oxide cycle37
arginine degradation I (arginase pathway)37
proline degradation37
glutamine degradation I37
proline biosynthesis I37
superpathway of citrulline metabolism37
proline biosynthesis II (from arginine)37
citrulline biosynthesis37
arginine degradation VI (arginase 2 pathway)37
Urea cycle and metabolism of amino groups37
asparagine biosynthesis I37
4-hydroxyproline degradation I37
citrulline degradation37
7.7OAT, ODC1, ASS1, ASL, OTC
10
Show member pathways
6.7OAT, ODC1, ASS1, ASL, DPYD, UMPS

Compounds for genes affiliated with Orotic Aciduria

About this section
Sources:
44Novoseek, 25HMDB, 50PharmGKB, 29IUPHAR, 12DrugBank, 3BitterDB
See all sources

Compounds related to Orotic Aciduria according to GeneCards/GeneDecks:

(show top 50)    (show all 59)
idCompoundScoreTop Affiliating Genes
1orotidine44 2511.1UMPS, OTC
2n-acetylglutamate4410.0OTC, ASL
3sodium phenylbutyrate509.9OTC, ASS1
4Canavaninosuccinate259.9ASS1, ASL
55-chloro-2,4-dihydroxypyridine449.9DPYD, UMPS
6potassium oxonate449.9DPYD, UMPS
7argininosuccinic acid44 2510.9ASL, ASS1
8l-citrulline29 1210.9OTC, ASS1
95-fluoro-2-deoxyuridine-5-monophosphate449.8UMPS, DPYD
10oxo449.8DPYD, UMPS
11tegafur44 5010.8DPYD, UMPS
12guanidinoacetate449.8ASS1, ASL
13dihydrouracil44 2510.8UMPS, DPYD
14poly u449.8UMPS, DPYD
15prpp449.7UMPS, DPYD
16fudr449.7DPYD, UMPS
17l-arginine29 25 1211.7ASL, ASS1
18adenylosuccinate449.7DPYD, ASS1
19fluorouracil50 1210.7DPYD, UMPS
20iron-sulfur449.6OTC, DPYD
21malate449.6OTC, ASL
22leucovorin44 50 1211.6UMPS, DPYD
23l-ornithine29 1210.6OTC, OAT
24sodium benzoate50 310.5ASS1, ASL, OTC
25phenylacetic acid50 44 2511.5OTC, ASL, ASS1
26ammonium449.5OTC, ASL, ASS1
27citrulline44 2510.5OTC, ASL, ASS1
28ecori449.5OAT, OTC
29pyrimidine44 2510.5DPYD, UMPS, OTC
30orotidine 5-monophosphate449.4UMPS, DPYD, ODC1
31quinone44 2510.4DPYD, ODC1
325fluorouracil449.4DPYD, UMPS, OTC
33uridine44 25 1211.3UMPS, DPYD, ODC1
34thymidylate449.3UMPS, DPYD, ODC1
35pyridoxal 5-phosphate449.3ODC1, OAT
36lactate449.2ODC1, UMPS, OTC
37delta(1)pyrroline-5-carboxylate449.2OAT, ASS1, OTC
38putrescine44 29 25 1212.1OAT, ODC1, OTC
39phosphoenolpyruvate44 1210.1OTC, ASS1, OAT
40Pyridoxal 5'-phosphate259.0ODC1, OAT
41nitric oxide44 25 1210.9ODC1, ASS1, ASL, OTC
42urea44 25 1210.7OAT, ASS1, ASL, OTC
43thymidine44 259.7UMPS, DPYD, ODC1
44glutamine448.6OAT, ODC1, ASL, OTC
45carbamoyl phosphate448.3OAT, ASS1, ASL, UMPS, OTC
46orotic acid44 25 1210.2OTC, UMPS, DPYD, ODC1, OAT
47arginine448.2OAT, ODC1, ASS1, ASL, OTC
48glutamate448.1OAT, ODC1, ASS1, ASL, OTC
49aspartate447.8OAT, ODC1, ASS1, ASL, UMPS, OTC
50ornithine44 258.6OAT, ODC1, ASS1, ASL, DPYD, OTC

GO Terms for genes affiliated with Orotic Aciduria

About this section

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

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Orotic Aciduria

About this section
4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet