ORAC1
MCID: ORT008
MIFTS: 48

Orotic Aciduria (ORAC1) malady

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

Aliases & Classifications for Orotic Aciduria

Aliases & Descriptions for Orotic Aciduria:

Name: Orotic Aciduria 54 12 24 66 29 13 52 14
Hereditary Orotic Aciduria 50 56 69
Oroticaciduria 24 56 29
Orotidylic Pyrophosphorylase and Orotidylic Decarboxylase Deficiency 50 66
Uridine Monophosphate Synthetase Deficiency 50 56
Uridine Monophosphate Synthase Deficiency 50 66
Oroticaciduria 1 50 66
Umps Deficiency 50 66
Orotate Phosphoribosyltransferase and Orotidylic Decarboxylase Deficiency 66
Orotate Phosphoribosyltransferase and Omp Decarboxylase Deficiency 50
Orotidylic Decarboxylase Deficiency 56
Hereditary Orotic Aciduria, Type 1 69
Orotic Aciduria Hereditary 52
Ump Synthtase Deficiency 50
Oprt and Odc Deficiency 66
Ump Synthase Deficiency 66
Orotic Aciduria Type 1 50
Orotic Aciduria Ii 69
Orotic Aciduria 1 66
Orotic Aciduria I 66
Orac1 66
Umps 50

Characteristics:

Orphanet epidemiological data:

56
hereditary orotic aciduria
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: any age;

HPO:

32
orotic aciduria:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 258900
Disease Ontology 12 DOID:0050833
Orphanet 56 ORPHA30
ICD10 via Orphanet 34 E79.8
MESH via Orphanet 43 C537136
UMLS via Orphanet 70 C0220987 C0268130
MeSH 42 D011686

Summaries for Orotic Aciduria

OMIM : 54 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 lysinuric protein intolerance, and has symptoms including hypertelorism, global developmental delay and hip dysplasia. An important gene associated with Orotic Aciduria is UMPS (Uridine Monophosphate Synthetase), and among its related pathways/superpathways are Carbon metabolism and Pyrimidine metabolism. Affiliated tissues include t cells, liver and testes, and related phenotype is integument.

Disease Ontology : 12 A pyrimidine metabolic disorder that is characterized by an excessive secretion of orotic acid in urine.

NIH Rare Diseases : 50 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 : 66 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 : 71 Orotic aciduria is a disease yielding an excessive excretion of orotic acid in urine. It causes a... more...

Related Diseases for Orotic Aciduria

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

(show all 48)
id Related Disease Score Top Affiliating Genes
1 hereditary orotic aciduria without megaloblastic anaemia 12.0
2 lysinuric protein intolerance 11.5
3 ornithine transcarbamylase deficiency 11.3
4 gastric cancer 11.1
5 colorectal cancer 11.1
6 colorectal cancer 5 11.0
7 adenine phosphoribosyltransferase deficiency 11.0
8 pyrimidine metabolic disorder 11.0
9 dihydropyrimidine dehydrogenase deficiency 11.0
10 charcot-marie-tooth disease, axonal, type 2q 10.1 DPYD UMPS
11 multifocal dystonia 10.0 DPYD UMPS
12 neutropenia, severe congenital 2, autosomal dominant 10.0 DPYD UMPS
13 megaloblastic anemia 10.0
14 hepatitis 10.0
15 hyperammonemia 10.0
16 pulmonary hypertension, neonatal 9.9 ASS1 OTC
17 renal oncocytoma 9.9
18 retinitis pigmentosa 4, autosomal dominant or recessive 9.9 ASS1 OTC
19 adenosine deaminase deficiency 9.9
20 argininemia 9.8
21 argininosuccinic aciduria 9.8
22 hepatic encephalopathy 9.8
23 epilepsy 9.8
24 hyperuricemia 9.8
25 lesch-nyhan syndrome 9.8
26 herpes simplex 9.8
27 homocystinuria 9.8
28 urea cycle disorder 9.8
29 short bowel syndrome 9.8
30 encephalopathy 9.8
31 hepatocellular carcinoma 9.8
32 heart disease 9.8
33 malignant cardiac peripheral nerve sheath neoplasm 9.8 ASS1 OTC
34 ifih1-related aicardi-goutieres syndrome 9.8 ASL OTC
35 papillary carcinoma 9.8
36 follicular adenoma 9.8
37 childhood type dermatomyositis 9.8
38 adenoma 9.8
39 influenza 9.8
40 cervical cancer, somatic 9.8
41 respiratory syncytial virus infectious disease 9.8
42 cardiomyopathy, dilated, 1j 9.7 ASL ASS1 OTC
43 aneurysm, intracranial berry, 1 9.7 ASL ASS1 OTC
44 carnitine acetyltransferase deficiency 9.7 ASL ASS1 OTC
45 waldenstrom macroglobulinemia 9.7 ASL ASS1 OTC
46 ichthyosis, congenital, autosomal recessive 1 9.7 ASL ASS1 SLC7A7
47 chromosome xp21 deletion syndrome 9.5 ASL ASS1 DPYD OTC
48 c syndrome 9.2 ASL ASS1 DPYD OTC SLC7A7 UMPS

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



Diseases related to Orotic Aciduria

Symptoms & Phenotypes for Orotic Aciduria

Symptoms by clinical synopsis from OMIM:

258900

Clinical features from OMIM:

258900

Human phenotypes related to Orotic Aciduria:

56 32 (show all 25)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 56 32 Frequent (79-30%) HP:0000316
2 global developmental delay 56 32 Very frequent (99-80%) HP:0001263
3 hip dysplasia 56 32 Frequent (79-30%) HP:0001385
4 splenomegaly 56 32 Frequent (79-30%) HP:0001744
5 recurrent respiratory infections 56 32 Frequent (79-30%) HP:0002205
6 wide nasal bridge 56 32 Frequent (79-30%) HP:0000431
7 aminoaciduria 56 32 Very frequent (99-80%) HP:0003355
8 anemia 56 32 Very frequent (99-80%) HP:0001903
9 patent ductus arteriosus 56 32 Frequent (79-30%) HP:0001643
10 low-set, posteriorly rotated ears 56 32 Frequent (79-30%) HP:0000368
11 downslanted palpebral fissures 56 32 Frequent (79-30%) HP:0000494
12 impaired t cell function 56 32 Frequent (79-30%) HP:0005435
13 abnormality of the ureter 56 32 Frequent (79-30%) HP:0000069
14 abnormality of the toenails 56 32 Frequent (79-30%) HP:0008388
15 oroticaciduria 56 32 Very frequent (99-80%) HP:0003218
16 orotic acid crystalluria 56 32 Very frequent (99-80%) HP:0003526
17 failure to thrive 32 HP:0001508
18 hematuria 32 HP:0000790
19 ventricular septal defect 32 HP:0001629
20 folate-unresponsive megaloblastic anemia 32 HP:0004826
21 atrial septal defect 32 HP:0001631
22 poikilocytosis 32 HP:0004447
23 anisocytosis 32 HP:0011273
24 reduced orotidine 5-prime phosphate decarboxylase activity 32 HP:0003267
25 pyrimidine-responsive megaloblastic anemia 32 HP:0003339

MGI Mouse Phenotypes related to Orotic Aciduria:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 integument MP:0010771 8.92 ASL ASS1 OTC SLC7A7

Drugs & Therapeutics for Orotic Aciduria

Interventional clinical trials:


id Name Status NCT ID Phase
1 Open-Label Study of Uridine Triacetate in Pediatric Patients With Hereditary Orotic Aciduria Active, not recruiting NCT02110147 Phase 2

Search NIH Clinical Center for Orotic Aciduria

Genetic Tests for Orotic Aciduria

Genetic tests related to Orotic Aciduria:

id Genetic test Affiliating Genes
1 Orotic Aciduria 29 24 UMPS
2 Oroticaciduria 29

Anatomical Context for Orotic Aciduria

MalaCards organs/tissues related to Orotic Aciduria:

39
T Cells, Liver, Testes, Heart, B Cells

Publications for Orotic Aciduria

Articles related to Orotic Aciduria:

(show top 50) (show all 80)
id Title Authors Year
1
Mild orotic aciduria in UMPS heterozygotes: a metabolic finding without clinical consequences. ( 28205048 )
2017
2
Hereditary Orotic Aciduria and the Excretion of Orotidine. ( 27574833 )
2016
3
In brief: Uridine triacetate (Xuriden) for hereditary orotic aciduria. ( 27027693 )
2016
4
Hereditary Orotic Aciduria with Epilepsy and without Megaloblastic Anemia. ( 25757096 )
2015
5
A Caenorhabditis elegans model of orotic aciduria reveals enlarged lysosome-related organelles in embryos lacking umps-1 function. ( 20148972 )
2010
6
Orotic aciduria and uridine monophosphate synthase: a reappraisal. ( 19562503 )
2009
7
Japanese black cattle with orotic aciduria detected by gas-chromatography/mass-spectrometry. ( 17409652 )
2007
8
Orotic aciduria and plasma urea cycle-related amino acid alterations in short bowel syndrome, evoked by an arginine-free diet. ( 15449570 )
2004
9
Decreased fluorouracil cytotoxic effect on EB-virus transformed lymphocytes from hereditary orotic aciduria. ( 10851269 )
2000
10
Uracil phosphoribosyltransferase activity in hereditary orotic aciduria. ( 10404744 )
1999
11
Hereditary orotic aciduria heterozygotes accompanied with neurological symptoms. ( 9710947 )
1998
12
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
13
Mutation of ornithine transcarbamylase (H136R) in a girl with severe intermittent orotic aciduria but normal enzyme activity. ( 9266387 )
1997
14
Benign persistent orotic aciduria and the possibility of misdiagnosis of ornithine carbamoyltransferase deficiency. ( 9266354 )
1997
15
A rapid and simple screening method for detection of orotic aciduria by capillary zone electrophoresis. ( 9086295 )
1997
16
Molecular cloning of the human UMP synthase gene and characterization of point mutations in two hereditary orotic aciduria families. ( 9042911 )
1997
17
Pyrimidine metabolism in hereditary orotic aciduria. ( 9061575 )
1997
18
Nucleotide pool imbalances in the livers of patients with urea cycle disorders associated with increased levels of orotic aciduria. ( 7773204 )
1995
19
Decreased hyperammonaemia and orotic aciduria due to inactivation of ornithine aminotransferase in mice with a hereditary abnormal ornithine carbamoyltransferase. ( 7707692 )
1994
20
Quantitative analysis of amniotic fluid pyrimidines for the prenatal diagnosis of hereditary orotic aciduria. ( 8295404 )
1993
21
Urinary excretion of purines in sheep with experimental orotic aciduria. ( 1907065 )
1991
22
First report of management and outcome of pregnancies associated with hereditary orotic aciduria. ( 1776631 )
1991
23
Mild orotic aciduria and uricosuria in severe trauma victims. ( 1902349 )
1991
24
Hypogammaglobulinemia in orotic aciduria. ( 2754565 )
1989
25
Orotic aciduria due to arginine deprivation: changes in the levels of carbamoyl phosphate and of other urea cycle intermediates in mouse liver. ( 2778543 )
1989
26
Orotic aciduria fibroblasts express a labile form of UMP synthase. ( 2475503 )
1989
27
Urinary purines, pyrimidines and nucleosides in uridine-treated orotic aciduria. ( 3390959 )
1988
28
Analysis of UMP synthase gene and mRNA structure in hereditary orotic aciduria fibroblasts. ( 2837086 )
1988
29
Hepatic encephalopathy and orotic aciduria associated with hepatocellular carcinoma in a noncirrhotic liver. ( 2828214 )
1988
30
Uridine-responsive hypogammaglobulinemia and congenital heart disease in a patient with hereditary orotic aciduria. ( 3183846 )
1988
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
Effect of glycine on the induction of orotic aciduria and urinary bladder tumorigenesis in the rat. ( 3616403 )
1987
35
Hereditary orotic aciduria: further biochemistry. ( 3487927 )
1986
36
Orotic aciduria, homocystinuria, formiminoglutamic aciduria and megaloblastosis associated with the formiminotransferase/cyclodeaminase deficiency. ( 3728187 )
1986
37
The role of hepatic ornithine transcarbamylase deficiency in the orotic aciduria of pregnant mice. ( 3732588 )
1986
38
Orotic aciduria and species specificity. ( 6384838 )
1984
39
Absence of immune deficiency in hereditary orotic aciduria. ( 6717503 )
1984
40
Cellular immune deficiency in two siblings with hereditary orotic aciduria. ( 6828110 )
1983
41
Hereditary orotic aciduria: a defect of pyrimidine metabolism with cellular immunodeficiency. ( 6606448 )
1983
42
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
43
Neonatal diagnosis of orotic aciduria: an experience with one family. ( 6848734 )
1983
44
Argininemia: report of a new case and mechanisms of orotic aciduria and hyperammonemia. ( 7164892 )
1982
45
Orotic aciduria in lysinuric protein intolerance: dependence on the urea cycle intermediates. ( 7254935 )
1981
46
Orotic aciduria caused by feeding excess lysine to growing rats. ( 6793701 )
1981
47
Purine and pyrimidine metabolism in hereditary orotic aciduria: some unexpected effects of allopurinol. ( 6775961 )
1980
48
Orotic aciduria and increased nitrogen catabolism in rats. ( 501442 )
1979
49
Oxonate-induced hyperuricemia and orotic aciduria in mice. ( 622363 )
1978
50
Factors affecting amino acid induced orotic aciduria in rats. ( 722348 )
1978

Variations for Orotic Aciduria

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

66
id Symbol AA change Variation ID SNP ID
1 UMPS p.Arg96Gly VAR_006807 rs121917890
2 UMPS p.Val109Gly VAR_006808 rs121917892
3 UMPS p.Gly429Arg VAR_006810 rs121917891

ClinVar genetic disease variations for Orotic Aciduria:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 UMPS NM_000373.3(UMPS): c.326T> G (p.Val109Gly) single nucleotide variant Pathogenic rs121917892 GRCh37 Chromosome 3, 124456430: 124456430
2 UMPS NM_000373.3(UMPS): c.638G> C (p.Gly213Ala) single nucleotide variant drug response rs1801019 GRCh37 Chromosome 3, 124456742: 124456742

Expression for Orotic Aciduria

Search GEO for disease gene expression data for Orotic Aciduria.

Pathways for Orotic Aciduria

GO Terms for Orotic Aciduria

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

id Name GO ID Score Top Affiliating Genes
1 cellular amino acid biosynthetic process GO:0008652 9.33 ASL ASS1 OTC
2 cellular amino acid metabolic process GO:0006520 9.26 OTC SLC7A7
3 urea cycle GO:0000050 9.13 ASL ASS1 OTC
4 arginine biosynthetic process GO:0006526 8.8 ASL ASS1 OTC

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

id Name GO ID Score Top Affiliating Genes
1 lyase activity GO:0016829 8.96 ASL UMPS
2 amino acid binding GO:0016597 8.62 ASS1 OTC

Sources for Orotic Aciduria

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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