MCID: ORT008
MIFTS: 50

Orotic Aciduria malady

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

Aliases & Classifications for Orotic Aciduria

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Sources:
50OMIM, 11Disease Ontology, 46NIH Rare Diseases, 23GeneTests, 13DISEASES, 52Orphanet, 68UniProtKB/Swiss-Prot, 25GTR, 12diseasecard, 48Novoseek, 66UMLS, 67UMLS via Orphanet, 29ICD10 via Orphanet, 38MESH via Orphanet, 35MedGen, 37MeSH, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Orotic Aciduria:

Name: Orotic Aciduria 50 11 23 13 68 25 12 48
Hereditary Orotic Aciduria 46 52 66
Oroticaciduria 23 52 25
Orotidylic Pyrophosphorylase and Orotidylic Decarboxylase Deficiency 46 68
Uridine Monophosphate Synthetase Deficiency 46 52
Uridine Monophosphate Synthase Deficiency 46 68
Orotic Aciduria Ii 46 66
Oroticaciduria 1 46 68
Umps Deficiency 46 68
Orotate Phosphoribosyltransferase and Orotidylic Decarboxylase Deficiency 68
Orotate Phosphoribosyltransferase and Omp Decarboxylase Deficiency 46
 
Orotidylic Decarboxylase Deficiency 52
Hereditary Orotic Aciduria, Type 1 66
Orotic Aciduria Hereditary 48
Ump Synthtase Deficiency 46
Ump Synthase Deficiency 68
Oprt and Odc Deficiency 68
Orotic Aciduria Type 1 46
Orotic Aciduria I 68
Orotic Aciduria 1 68
Orac1 68
Umps 46

Characteristics:

Orphanet epidemiological data:

52
hereditary orotic aciduria:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: any age

HPO:

62
orotic aciduria:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 258900
Disease Ontology11 DOID:0050833
Orphanet52 ORPHA30
UMLS via Orphanet67 C0220987, C0268130
ICD10 via Orphanet29 E79.8
MESH via Orphanet38 C537136
MeSH37 D011686

Summaries for Orotic Aciduria

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OMIM:50 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 aminoaciduria, cognitive impairment and hypertelorism. An important gene associated with Orotic Aciduria is UMPS (Uridine Monophosphate Synthetase), and among its related pathways are Pyrimidine metabolism (REACTOME) and Alanine and aspartate metabolism. Affiliated tissues include t cells, bone and liver, and related mouse phenotype integument.

Disease Ontology:11 A pyrimidine metabolic disorder that is characterized by an excessive secretion of orotic acid in urine.

NIH Rare Diseases:46 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:68 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:69 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:

 52 (show all 16)
  • abnormality of the ureter
  • hypertelorism
  • low-set, posteriorly rotated ears
  • wide nasal bridge
  • downslanted palpebral fissures
  • global developmental delay
  • hip dysplasia
  • patent ductus arteriosus
  • splenomegaly
  • anemia
  • recurrent respiratory infections
  • oroticaciduria
  • aminoaciduria
  • orotic acid crystalluria
  • impaired t cell function
  • abnormality of the toenails

HPO human phenotypes related to Orotic Aciduria:

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

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 Aciduria25 23 UMPS
2 Oroticaciduria25

Anatomical Context for Orotic Aciduria

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MalaCards organs/tissues related to Orotic Aciduria:

34
T cells, Bone, Liver, Testes, B cells, Heart

Animal Models for Orotic Aciduria or affiliated genes

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MGI Mouse Phenotypes related to Orotic Aciduria:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107718.1ASL, ASS1, 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
Hereditary Orotic Aciduria with Epilepsy and without Megaloblastic Anemia. (25757096)
2015
3
A Caenorhabditis elegans model of orotic aciduria reveals enlarged lysosome-related organelles in embryos lacking umps-1 function. (20148972)
2010
4
Orotic aciduria and uridine monophosphate synthase: a reappraisal. (19562503)
2009
5
Decreased fluorouracil cytotoxic effect on EB-virus transformed lymphocytes from hereditary orotic aciduria. (10851269)
2000
6
Uracil phosphoribosyltransferase activity in hereditary orotic aciduria. (10404744)
1999
7
Mutation of ornithine transcarbamylase (H136R) in a girl with severe intermittent orotic aciduria but normal enzyme activity. (9266387)
1997
8
Decreased hyperammonaemia and orotic aciduria due to inactivation of ornithine aminotransferase in mice with a hereditary abnormal ornithine carbamoyltransferase. (7707692)
1994
9
Mild orotic aciduria and uricosuria in severe trauma victims. (1902349)
1991
10
First report of management and outcome of pregnancies associated with hereditary orotic aciduria. (1776631)
1991
11
Orotic aciduria due to arginine deprivation: changes in the levels of carbamoyl phosphate and of other urea cycle intermediates in mouse liver. (2778543)
1989
12
Hypogammaglobulinemia in orotic aciduria. (2754565)
1989
13
Orotic aciduria fibroblasts express a labile form of UMP synthase. (2475503)
1989
14
Analysis of UMP synthase gene and mRNA structure in hereditary orotic aciduria fibroblasts. (2837086)
1988
15
Hepatic encephalopathy and orotic aciduria associated with hepatocellular carcinoma in a noncirrhotic liver. (2828214)
1988
16
Uridine-responsive hypogammaglobulinemia and congenital heart disease in a patient with hereditary orotic aciduria. (3183846)
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
Deficiency of UMP synthase in dairy cattle: a model for hereditary orotic aciduria. (2448544)
1987
20
The role of hepatic ornithine transcarbamylase deficiency in the orotic aciduria of pregnant mice. (3732588)
1986
21
Orotic aciduria, homocystinuria, formiminoglutamic aciduria and megaloblastosis associated with the formiminotransferase/cyclodeaminase deficiency. (3728187)
1986
22
Hereditary orotic aciduria: further biochemistry. (3487927)
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
Argininemia: report of a new case and mechanisms of orotic aciduria and hyperammonemia. (7164892)
1982
28
Orotic aciduria caused by feeding excess lysine to growing rats. (6793701)
1981
29
Orotic aciduria in lysinuric protein intolerance: dependence on the urea cycle intermediates. (7254935)
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 two unrelated patients with inherited deficiencies of purine nucleoside phosphorylase. (406278)
1977
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
Hereditary orotic aciduria: results of a screening survey. (1113015)
1975
37
Oxipurinol and orotic aciduria: effect on the orotidine-5'-monophosphate decarboxylase activity of cultured human fibroblasts. (4414966)
1974
38
The orotic aciduria of pregnancy. (4697170)
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
Screening tests for argininosuccinic aciduria, orotic aciduria, and other inherited enzyme deficiencies using dried blood specimens. (4199795)
1972
41
Hereditary orotic aciduria. (5520435)
1970
42
Hereditary orotic aciduria: long-term therapy with uridine and a trial of uracil. (5347440)
1969
43
Orotic aciduria. Differing enzyme patterns. (5808247)
1969
44
Hereditary orotic aciduria. II. A urinary screening test. (5677483)
1968
45
HEREDITARY OROTIC ACIDURIA--PYRIMIDINE AUXOTROPHISM IN MAN. (14247288)
1965
46
HYPOCHOLESTEROLAEMIA AND OROTIC ACIDURIA DURING TREATMENT WITH 6-AZAURIDINE. (14243057)
1965
47
A GENETIC STUDY OF HEREDITARY OROTIC ACIDURIA. (14110033)
1964
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:

68
id Symbol AA change Variation ID SNP ID
1UMPSp.Arg96GlyVAR_006807rs121917890
2UMPSp.Val109GlyVAR_006808rs121917892
3UMPSp.Gly429ArgVAR_006810rs121917891

Clinvar genetic disease variations for Orotic Aciduria:

5
id Gene Variation Type Significance SNP ID Assembly Location
1UMPSNM_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
1arginine biosynthetic process via ornithineGO:00424509.9ASL, OTC
2response to zinc ionGO:00100439.5ASS1, OTC
3arginine biosynthetic processGO:00065269.5ASL, ASS1
4midgut developmentGO:00074949.4ASS1, OTC
5liver developmentGO:00018899.4ASS1, OTC
6urea cycleGO:00000509.1ASL, ASS1, OTC

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

idNameGO IDScoreTop Affiliating Genes
1amino acid bindingGO:00165979.4ASS1, OTC

Sources for Orotic Aciduria

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet