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 lysinuric protein intolerance, 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 bone, t cells and liver, 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
Bone, T cells, Liver, Testes, Breast, Lung, Endothelial

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 77)
idTitleAuthorsYear
1
Infantile generalized hypertrichosis caused by topical minoxidil. (26982785)
2016
2
Focal Nodular Hyperplasia and Hepatocellular Adenoma: Accuracy of Gadoxetic Acid-enhanced MR Imaging-A Systematic Review. (26599935)
2015
3
Safety Considerations of Mammalian Target of Rapamycin Inhibitors in Tuberous Sclerosis Complex and Renal Transplantation. (25402866)
2014
4
Differential expression of secretoglobins in normal ovary and in ovarian carcinoma--overexpression of mammaglobin-1 is linked to tumor progression. (24603286)
2014
5
Short-term response of mitomycin C on the human rectus muscle following strabismus surgery: histological, ultrastructural, and biomechanical evaluation. (23380007)
2013
6
Evaluation of the ability of a photocoagulator to rupture the retinal vein and Bruch's membrane for potential vein bypass in retinal vein occlusion. (23676229)
2013
7
Association of common gene variants in vitamin D modulating genes and colon cancer recurrence. (23793229)
2013
8
Aggressive renal angiomyolipoma extending into the renal vein and inferior vena cava - an uncommon entity. (21750135)
2011
9
Ectopic intrathyroid parathyroid adenoma: diagnostic and therapeutic challenges due to multiple osteolytic lesions. Case report. (21894297)
2011
10
Structural basis for dimethylarginine recognition by the Tudor domains of human SMN and SPF30 proteins. (22101937)
2011
11
Diabetic ketoacidosis presenting with acute pancreatitis and visceral vein thrombosis. (21608311)
2011
12
Is there a clear threshold for fasting plasma glucose that differentiates between those with and without neuropathy and chronic kidney disease?: the Singapore Prospective Study Program. (19406920)
2009
13
Biochemical characterization of MODY2 glucokinase variants V62M and G72R reveals reduced enzymatic activities relative to wild type. (19187021)
2009
14
Gamma interferon-mediated superinduction of B7-H1 in PTEN-deficient glioblastoma: a paradoxical mechanism of immune evasion. (19875977)
2009
15
The genetic basis of inherited anomalies of the teeth. Part 1: clinical and molecular aspects of non-syndromic dental disorders. (18499550)
2008
16
History and diagnostic significance of C-peptide. (18509495)
2008
17
Structural implications of platelet endothelial cell adhesion molecule-1 polymorphisms. (18698258)
2008
18
Pyrogallol inhibits the growth of human lung cancer Calu-6 cells via arresting the cell cycle arrest. (18652887)
2008
19
Lymphocyte activation gene-3 fusion protein increases the potency of a granulocyte macrophage colony-stimulating factor-secreting tumor cell immunotherapy. (18519788)
2008
20
Luteolin inhibits myelin basic protein-induced human mast cell activation and mast cell-dependent stimulation of Jurkat T cells. (18806808)
2008
21
Emerging biomarkers for the diagnosis and prognosis of prostate cancer. (18927246)
2008
22
The impact of insight on functioning in patients with schizophrenia or schizoaffective disorder receiving risperidone long-acting injectable. (18091190)
2007
23
Lack of an acute effect of ghrelin on markers of bone turnover in healthy controls and post-gastrectomy subjects. (17613297)
2007
24
QSAR analysis of meclofenamic acid analogues as selective COX-2 inhibitors. (16290292)
2006
25
Anti-ganglioside complex antibodies in Miller Fisher syndrome. (16614007)
2006
26
A structural model of 20S immunoproteasomes: effect of LMP2 codon 60 polymorphism on expression, activity, intracellular localisation and insight into the regulatory mechanisms. (16606340)
2006
27
Local necrotizing skin infections in an HIV patient with porphyria cutanea tarda. (15731731)
2005
28
Circulating erythropoietin levels and prognosis in patients with congestive heart failure: comparison with neurohormonal and inflammatory markers. (15956012)
2005
29
Acrofacial dysostosis type RodrA-guez. (15793832)
2005
30
Involvement of medullary serotonergic groups in multiple system atrophy. (14991820)
2004
31
Polymorphism of promotor region of the tumor necrosis factor-alpha gene in patients with viral hepatitis C. (15232637)
2004
32
Increased Ca2+ storage capacity in the sarcoplasmic reticulum by overexpression of HRC (histidine-rich Ca2+ binding protein). (12480542)
2003
33
Regulation of the Chk2 protein kinase by oligomerization-mediated cis- and trans-phosphorylation. (12805407)
2003
34
Screening tests of disseminated intravascular coagulation: guidelines for rapid and specific laboratory diagnosis. (10890618)
2000
35
Effects of adductor muscle stimulation on speech in abductor spasmodic dysphonia. (11081615)
2000
36
Expression of keratinocyte growth factor and its receptor in colorectal cancer. (10691999)
2000
37
Chemical synthesis and characterization of chemokine RANTES and its analogues. (10080874)
1999
38
Glucose and fatty acid metabolism in type 2 diabetes mellitus: an assessment using low-dose insulin infusion and the hyperinsulinaemic euglycaemic clamp. (11220296)
1999
39
Differentiation between transmural perioperative myocardial infarction and subendocardial injury after coronary artery bypass grafting using biochemical tests, elaborated by cluster and discriminant analysis. (9681595)
1998
40
Evaluation of a rapid immunochromatographic test for diagnosis of dengue virus infection. (9431954)
1998
41
Protein-tyrosine phosphatase activity of Coxiella burnetii that inhibits human neutrophils. (9171454)
1996
42
Histamine metabolism in mastocytosis patients treated with interferon alpha-2b. (8696923)
1996
43
Direct interaction of Gadd45 with PCNA and evidence for competitive interaction of Gadd45 and p21Waf1/Cip1 with PCNA. (7478510)
1995
44
Characterization of the antihemorrhagic factors of mongoose (Herpestes edwardsii). (7886702)
1994
45
Molecular analysis of APC mutations in familial adenomatous polyposis and sporadic colon carcinomas. (1355210)
1992
46
Central retinal artery occlusion: a complication of the knee-chest position. (1520996)
1992
47
Solar urticaria. The relationship of photoallergen and action spectrum. (3707171)
1986
48
Case report 134. Mesenchymal chondrosarcoma of the right side of the pelvis and thigh. (7466420)
1981
49
Ocular toxocariasis demonstrated by ultrasound. (7337343)
1981
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