MCID: ORT008
MIFTS: 51

Orotic Aciduria malady

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

Aliases & Classifications for Orotic Aciduria

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Sources:
49OMIM, 10Disease Ontology, 11diseasecard, 22GeneTests, 47Novoseek, 12DISEASES, 67UniProtKB/Swiss-Prot, 24GTR, 45NIH Rare Diseases, 51Orphanet, 65UMLS, 66UMLS via Orphanet, 28ICD10 via Orphanet, 37MESH via Orphanet, 34MedGen, 36MeSH, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Orotic Aciduria:

Name: Orotic Aciduria 49 10 11 22 47 12 67 24
Hereditary Orotic Aciduria 45 51 65
Orotidylic Pyrophosphorylase and Orotidylic Decarboxylase Deficiency 45 67
Uridine Monophosphate Synthetase Deficiency 45 51
Uridine Monophosphate Synthase Deficiency 45 67
Orotic Aciduria Ii 45 65
Oroticaciduria 1 45 67
Umps Deficiency 45 67
Oroticaciduria 22 51
Orotate Phosphoribosyltransferase and Orotidylic Decarboxylase Deficiency 67
Orotate Phosphoribosyltransferase and Omp Decarboxylase Deficiency 45
 
Orotidylic Decarboxylase Deficiency 51
Hereditary Orotic Aciduria, Type 1 65
Orotic Aciduria Hereditary 47
Ump Synthtase Deficiency 45
Ump Synthase Deficiency 67
Oprt and Odc Deficiency 67
Orotic Aciduria Type 1 45
Orotic Aciduria I 67
Orotic Aciduria 1 67
Orac1 67
Umps 45

Characteristics:

Orphanet epidemiological data:

51
hereditary orotic aciduria:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: any age

HPO:

61
orotic aciduria:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 258900
Disease Ontology10 DOID:0050833
Orphanet51 30
UMLS via Orphanet66 C0220987, C0268130
ICD10 via Orphanet28 E79.8
MESH via Orphanet37 C537136
MeSH36 D011686
UMLS65 C0268130, C0220987, C0268131

Summaries for Orotic Aciduria

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OMIM:49 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 hereditary orotic aciduria without megaloblastic anaemia and colorectal cancer, and has symptoms including cognitive impairment, aminoaciduria and abnormality of the upper urinary tract. 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 liver, bone and endothelial, and related mouse phenotypes are renal/urinary system and integument.

Disease Ontology:10 A pyrimidine metabolic disorder that is characterized by an excessive secretion of orotic acid in urine.

NIH Rare Diseases:45 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

UniProtKB/Swiss-Prot:67 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.

Wikipedia:68 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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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:

 51 (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 25)
id Description Frequency HPO Source Accession
1 cognitive impairment hallmark (90%) HP:0100543
2 aminoaciduria hallmark (90%) HP:0003355
3 abnormality of the upper urinary tract typical (50%) HP:0010935
4 abnormality of the toenails typical (50%) HP:0008388
5 abnormality of the hip bone typical (50%) HP:0003272
6 recurrent respiratory infections typical (50%) HP:0002205
7 splenomegaly typical (50%) HP:0001744
8 patent ductus arteriosus typical (50%) HP:0001643
9 downslanted palpebral fissures typical (50%) HP:0000494
10 wide nasal bridge typical (50%) HP:0000431
11 low-set, posteriorly rotated ears typical (50%) HP:0000368
12 hypertelorism typical (50%) HP:0000316
13 atria septal defect rare (5%) HP:0001631
14 ventricular septal defect rare (5%) HP:0001629
15 failure to thrive rare (5%) HP:0001508
16 anisocytosis HP:0011273
17 impaired t cell function HP:0005435
18 folate-unresponsive megaloblastic anemia HP:0004826
19 poikilocytosis HP:0004447
20 orotic acid crystalluria HP:0003526
21 pyrimidine-responsive megaloblastic anemia HP:0003339
22 reduced orotidine 5-prime phosphate decarboxylase activity HP:0003267
23 oroticaciduria HP:0003218
24 global developmental delay HP:0001263
25 hematuria HP:0000790

Drugs & Therapeutics for Orotic Aciduria

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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

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Genetic tests related to Orotic Aciduria:

id Genetic test Affiliating Genes
1 Orotic Aciduria22 UMPS

Anatomical Context for Orotic Aciduria

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MalaCards organs/tissues related to Orotic Aciduria:

33
Liver, Bone, Endothelial, T cells, Lung, Testes, Cervix

Animal Models for Orotic Aciduria or affiliated genes

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MGI Mouse Phenotypes related to Orotic Aciduria:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053678.6ASL, OAT, OTC, SLC7A7
2MP:00107717.9ASL, ASS1, OAT, OTC, SLC7A7
3MP:00053867.6ASL, ASS1, OAT, OTC, SLC7A7

Publications for Orotic Aciduria

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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
A Caenorhabditis elegans model of orotic aciduria reveals enlarged lysosome-related organelles in embryos lacking umps-1 function. (20148972)
2010
3
Japanese black cattle with orotic aciduria detected by gas-chromatography/mass-spectrometry. (17409652)
2007
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
Quantitative analysis of amniotic fluid pyrimidines for the prenatal diagnosis of hereditary orotic aciduria. (8295404)
1993
11
Orotic aciduria fibroblasts express a labile form of UMP synthase. (2475503)
1989
12
Orotic aciduria due to arginine deprivation: changes in the levels of carbamoyl phosphate and of other urea cycle intermediates in mouse liver. (2778543)
1989
13
Hypogammaglobulinemia in orotic aciduria. (2754565)
1989
14
Uridine-responsive hypogammaglobulinemia and congenital heart disease in a patient with hereditary orotic aciduria. (3183846)
1988
15
Urinary purines, pyrimidines and nucleosides in uridine-treated orotic aciduria. (3390959)
1988
16
Analysis of UMP synthase gene and mRNA structure in hereditary orotic aciduria fibroblasts. (2837086)
1988
17
Effect of glycine on the induction of orotic aciduria and urinary bladder tumorigenesis in the rat. (3616403)
1987
18
An arginine-deficient diet in humans does not evoke hyperammonemia or orotic aciduria. (3668688)
1987
19
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
20
Deficiency of UMP synthase in dairy cattle: a model for hereditary orotic aciduria. (2448544)
1987
21
The role of hepatic ornithine transcarbamylase deficiency in the orotic aciduria of pregnant mice. (3732588)
1986
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
Partial ornithine carbamyl transferase deficiency: an inborn error of the urea cycle presenting as orotic aciduria in a male infant. (5074751)
1972
38
Hereditary orotic aciduria. (5520435)
1970
39
Orotic aciduria. (4893711)
1969
40
Hereditary orotic aciduria with normal growth and development. (5353014)
1969
41
Hereditary orotic aciduria: long-term therapy with uridine and a trial of uracil. (5347440)
1969
42
Enzyme studies on diploid cell strains developed from patients with hereditary orotic aciduria. (6021362)
1967
43
Megaloblastic anemia and orotic aciduria. A hereditary disorder of pyrimidine metabolism responsive to uridine. (6026580)
1967
44
HEREDITARY OROTIC ACIDURIA--PYRIMIDINE AUXOTROPHISM IN MAN. (14247288)
1965
45
HYPOCHOLESTEROLAEMIA AND OROTIC ACIDURIA DURING TREATMENT WITH 6-AZAURIDINE. (14243057)
1965
46
HEREDITARY OROTIC ACIDURIA AND MEGALOBLASTIC ANAEMIA: A SECOND CASE, WITH RESPONSE TO URIDINE. (14243056)
1965
47
Studies on congenital orotic aciduria: comparison of orotic acid metabolism in microorganisms. (13989510)
1963
48
The uricosuria and orotic aciduria induced by 6-azauridine. (13891472)
1961
49
PYRIMIDINE METABOLISM IN MAN. IV. THE ENZYMATIC DEFECT OF OROTIC ACIDURIA. (16695858)
1961
50

Variations for Orotic Aciduria

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

67
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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GO Terms for genes affiliated with Orotic Aciduria

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

idNameGO IDScoreTop Affiliating Genes
1polyamine metabolic processGO:00065959.9ASL, OTC
2response to zinc ionGO:00100439.5ASS1, OTC
3liver developmentGO:00018899.4ASS1, OTC
4cellular nitrogen compound metabolic processGO:00346418.1ASL, ASS1, OAT, OTC

Sources for Orotic Aciduria

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet