MCID: ORT008
MIFTS: 54

Orotic Aciduria malady

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

Aliases & Classifications for Orotic Aciduria

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Sources:
46OMIM, 8Disease Ontology, 9diseasecard, 42NIH Rare Diseases, 20GeneTests, 44Novoseek, 48Orphanet, 22GTR, 61UMLS, 34MESH via Orphanet, 26ICD10 via Orphanet, 62UMLS via Orphanet
See all sources

Aliases & Descriptions for Orotic Aciduria:

Name: Orotic Aciduria 46 8 9 20 44 22 61
Hereditary Orotic Aciduria 42 48 61
Uridine Monophosphate Synthetase Deficiency 42 48
Orotidylic Decarboxylase Deficiency 42 48
Orotic Aciduria Ii 42 61
Oroticaciduria 42 48
Orotidylic Pyrophosphorylase and Orotidylic Decarboxylase Deficiency 42
Orotate Phosphoribosyltransferase and Omp Decarboxylase Deficiency 42
 
Uridine Monophosphate Synthase Deficiency 42
Hereditary Orotic Aciduria, Type 1 61
Orotic Aciduria Hereditary 44
Ump Synthtase Deficiency 42
Orotic Aciduria Type 1 42
Oroticaciduria 1 42
Umps Deficiency 42
Umps 42


Classifications:



Characteristics (Orphanet epidemiological data):

48
hereditary orotic aciduria:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: any age


External Ids:

OMIM46 258900
Disease Ontology8 DOID:0050833
Orphanet48 30
MESH via Orphanet34 C537136
ICD10 via Orphanet26 D53.0
UMLS via Orphanet62 C0220987, C0268130

Summaries for Orotic Aciduria

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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 hereditary orotic aciduria, 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, bone and t 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.

NIH Rare Diseases:42 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:64 Orotic aciduria refers to an excessive excretion of orotic acid in urine. It causes a characteristic... more...

Related Diseases for Orotic Aciduria

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

(show all 42)
idRelated DiseaseScoreTop Affiliating Genes
1argininosuccinic aciduria30.6ASL, OTC
2urea cycle disorder30.6ASL, ASS1
3lysinuric protein intolerance30.5ASS1, ASL, OTC
4argininemia30.3OTC, ASS1, ASL
5citrullinemia30.1ASL, OTC, ASS1
6ornithine transcarbamylase deficiency29.9ASL, OTC, DPYD, ASS1
7hepatocellular carcinoma29.9DPYD, OTC, ASS1
8colorectal cancer29.8ODC1, DPYD, UMPS
9hereditary orotic aciduria without megaloblastic anaemia10.5
10reye syndrome10.4OTC
11cystinuria10.4OTC
12hepatitis10.4
13megaloblastic anemia10.4
14malaria10.3
15lesch-nyhan syndrome10.2
16hyperuricemia10.2
17homocystinuria10.2
18congenital heart disease10.2
19hepatic encephalopathy10.2
20herpes simplex10.2
21carbamoylphosphate synthetase i deficiency10.2OTC, ASS1
22propionicacidemia10.2ASS1, OTC
23renal oncocytoma10.2
24influenza10.2
25rectal neoplasm10.2DPYD, UMPS
26brain disease10.1DPYD, OTC
27neutropenia10.1DPYD, UMPS
28adenosine deaminase deficiency10.0
29spiradenoma10.0OTC, OAT
30cervical squamous cell carcinoma10.0
31chromophobe renal cell carcinoma10.0
32sinusitis10.0
33systemic onset juvenile idiopathic arthritis10.0
34squamous cell carcinoma, head and neck10.0ODC1, DPYD
35gastric adenocarcinoma10.0DPYD, ODC1
36stomach cancer9.9ODC1, DPYD, UMPS
37kidney cancer9.9DPYD, UMPS, ASS1
38lung cancer9.9UMPS, DPYD, ODC1
39gastric cancer, somatic9.9UMPS, ODC1, DPYD
40tongue squamous cell carcinoma9.8UMPS, ODC1, DPYD
41hyperammonemia multi-gene panels9.7ASL, OAT, ASS1, OTC
42metabolic syndrome x9.6OAT, ASS1, OTC, DPYD

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



Diseases related to orotic aciduria

Symptoms for Orotic Aciduria

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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

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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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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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MalaCards organs/tissues related to Orotic Aciduria:

31
Liver, Bone, T cells, Testes, Heart, B cells

Animal Models for Orotic Aciduria or affiliated genes

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MGI Mouse Phenotypes related to Orotic Aciduria:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107687.7OTC, ASL, ASS1, ODC1, OAT

Publications for Orotic Aciduria

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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
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
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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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:

5
id Gene Variation 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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Search GEO for disease gene expression data for Orotic Aciduria.

Pathways for genes affiliated with Orotic Aciduria

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Pathways related to Orotic Aciduria according to GeneCards Suite gene sharing:

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 degradation36
purine nucleotides degradation36
adenine and adenosine salvage II36
adenine and adenosine salvage III36
oxidized GTP and dGTP detoxification36
urate biosynthesis/inosine 5-phosphate degradation36
adenine and adenosine salvage I36
purine ribonucleosides degradation to ribose-1-phosphate36
inosine-5-phosphate biosynthesis36
guanosine nucleotides degradation36
guanine and guanosine salvage36
adenosine nucleotides degradation36
5-aminoimidazole ribonucleotide biosynthesis36
9.5UMPS, DPYD
5
Show member pathways
9.5UMPS, DPYD
6
Show member pathways
L-serine degradation36
pentose phosphate pathway (oxidative branch)36
formaldehyde oxidation II (glutathione-dependent)36
9.1OTC, ASL, ASS1
7
Show member pathways
glutamate biosynthesis II36
arginine biosynthesis IV36
8.3OTC, ASL, ASS1, OAT
8
Show member pathways
creatine-phosphate biosynthesis36
glycine degradation (creatine biosynthesis)36
putrescine biosynthesis III36
spermidine biosynthesis I36
tryptophan degradation via kynurenine36
spermine biosynthesis36
urea cycle36
S-methyl-5-thio-alpha-D-ribose 1-phosphate degradation I36
tyrosine degradation I36
L-carnitine biosynthesis36
methylthiopropionate biosynthesis36
2-oxoglutarate decarboxylation to succinyl-CoA36
S-methyl-5-thioadenosine degradation II36
7.7OAT, ODC1, ASS1, ASL, OTC
9
Show member pathways
citrulline-nitric oxide cycle36
arginine degradation I (arginase pathway)36
proline degradation36
glutamine degradation I36
proline biosynthesis I36
superpathway of citrulline metabolism36
proline biosynthesis II (from arginine)36
citrulline biosynthesis36
arginine degradation VI (arginase 2 pathway)36
Urea cycle and metabolism of amino groups36
asparagine biosynthesis I36
4-hydroxyproline degradation I36
citrulline degradation36
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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Sources:
44Novoseek, 24HMDB, 50PharmGKB, 28IUPHAR, 11DrugBank, 1BitterDB
See all sources

Compounds related to Orotic Aciduria according to GeneCards Suite gene sharing:

(show top 50)    (show all 59)
idCompoundScoreTop Affiliating Genes
1orotidine44 2411.1UMPS, OTC
2n-acetylglutamate4410.0OTC, ASL
3sodium phenylbutyrate509.9OTC, ASS1
4Canavaninosuccinate249.9ASS1, ASL
55-chloro-2,4-dihydroxypyridine449.9DPYD, UMPS
6potassium oxonate449.9DPYD, UMPS
7argininosuccinic acid44 2410.9ASL, ASS1
8l-citrulline28 1110.9ASS1, OTC
95-fluoro-2-deoxyuridine-5-monophosphate449.9UMPS, DPYD
10oxo449.8DPYD, UMPS
11tegafur44 5010.8DPYD, UMPS
12guanidinoacetate449.8ASS1, ASL
13dihydrouracil44 2410.8UMPS, DPYD
14poly u449.8UMPS, DPYD
15prpp449.7DPYD, UMPS
16l-arginine28 24 1111.7ASL, ASS1
17fudr449.7UMPS, DPYD
18adenylosuccinate449.7ASS1, DPYD
19fluorouracil50 1110.7DPYD, UMPS
20iron-sulfur449.6DPYD, OTC
21malate449.6OTC, ASL
22l-ornithine28 1110.6OTC, OAT
23leucovorin44 50 1111.5UMPS, DPYD
24sodium benzoate50 110.5ASS1, ASL, OTC
25phenylacetic acid50 44 2411.5ASS1, ASL, OTC
26ammonium449.5ASS1, OTC, ASL
27citrulline44 2410.5OTC, ASL, ASS1
28ecori449.5OAT, OTC
29pyrimidine44 2410.5OTC, UMPS, DPYD
30quinone44 2410.4ODC1, DPYD
31orotidine 5-monophosphate449.4UMPS, DPYD, ODC1
325fluorouracil449.4OTC, DPYD, UMPS
33uridine44 24 1111.3UMPS, ODC1, DPYD
34thymidylate449.3DPYD, ODC1, UMPS
35pyridoxal 5-phosphate449.3OAT, ODC1
36lactate449.2OTC, ODC1, UMPS
37delta(1)pyrroline-5-carboxylate449.2OTC, ASS1, OAT
38putrescine44 28 24 1112.1OAT, ODC1, OTC
39phosphoenolpyruvate44 1110.1OTC, OAT, ASS1
40Pyridoxal 5'-phosphate249.0ODC1, OAT
41nitric oxide44 24 1110.9ODC1, ASL, OTC, ASS1
42urea44 24 1110.7OAT, ASS1, ASL, OTC
43thymidine44 249.7UMPS, ODC1, DPYD
44glutamine448.6ASL, OTC, OAT, ODC1
45carbamoyl phosphate448.3OTC, ASS1, ASL, UMPS, OAT
46orotic acid44 24 1110.2OTC, UMPS, DPYD, ODC1, OAT
47arginine448.2OAT, ODC1, OTC, ASL, ASS1
48glutamate448.1OTC, ODC1, ASL, ASS1, OAT
49aspartate447.8ODC1, OTC, UMPS, ASL, OAT, ASS1
50ornithine44 248.6ASL, ASS1, ODC1, DPYD, OTC, OAT

GO Terms for genes affiliated with Orotic Aciduria

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Cellular components related to Orotic Aciduria according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1cytosolGO:00058298.0UMPS, DPYD, ASL, ASS1, ODC1

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1arginine biosynthetic processGO:00065269.5ASS1, OTC
2nucleobase-containing small molecule metabolic processGO:00550869.5UMPS, DPYD
3UMP biosynthetic processGO:00062229.4UMPS, DPYD
4pyrimidine nucleobase metabolic processGO:00062069.2UMPS, DPYD
5urea cycleGO:00000509.2OTC, ASL, ASS1
6cellular nitrogen compound metabolic processGO:00346417.9OTC, ASL, ASS1, ODC1, OAT
7small molecule metabolic processGO:00442816.9OAT, ODC1, ASS1, ASL, DPYD, UMPS

Sources for Orotic Aciduria

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2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet