Orotic Aciduria malady

Metabolic diseases, Blood diseases categories

Summaries for Orotic Aciduria

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63Wikipedia, 46OMIM, 32MalaCards
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Wikipedia:63 Orotic aciduria refers to an excessive excretion of orotic acid in urine. It causes a characteristic... more...

MalaCards: Orotic Aciduria, also known as hereditary orotic aciduria, is related to hepatitis and lysinuric protein intolerance, and has symptoms including immunodeficiency/increased susceptibility to infections/recurrent infections, hip dislocation/dysplasia/coxa valga/coxa vara/coxa plana and megaureter/hydronephrosis/pyeloureteral junction syndrome. An important gene associated with Orotic Aciduria is UMPS (uridine monophosphate synthetase), and among its related pathways are proline biosynthesis II (from arginine) and Pyrimidine metabolism. The compounds orotidine and potassium oxonate have been mentioned in the context of this disorder. Affiliated tissues include liver.

Description from OMIM:46 258900

Aliases & Classifications for Orotic Aciduria

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48Orphanet, 60UMLS, 20GeneTests, 22GTR, 46OMIM, 44Novoseek, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Malacards categories (disease lists): (See all malacards categories)
Global: Metabolic diseases
Anatomical: Blood diseases

Characteristics (Orphanet epidemiological data):

hereditary orotic aciduria:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy; Age of death: Any age

Aliases & Descriptions:

orotic aciduria 20 22 46 44 60
hereditary orotic aciduria 48 60
uridine monophosphate synthetase deficiency 48
orotidylic decarboxylase deficiency 48
oroticaciduria 48

External Ids:

OMIM46 258900
MESH via Orphanet35 C537136
ICD10 via Orphanet26 D53.0
SNOMED-CT via Orphanet57 16242007, 69525003, 47641009 124277009, 90093009, more
UMLS via Orphanet61 C0220987, C0268130

Related Diseases for Orotic Aciduria

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17GeneCards, 18GeneDecks
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Diseases in the Orotic Aciduria family:

Orotic Aciduria Type 1

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

(show all 38)
idRelated DiseaseScoreTop Affiliating Genes
1hepatitis30.4ASL, OTC
2lysinuric protein intolerance30.4ASL, OTC, ASS1
3ornithine carbamoyltransferase deficiency30.2OTC
4argininosuccinic aciduria30.2ASL, OTC
5urea cycle disorder30.2ASL, ASS1
6hepatocellular carcinoma30.2DPYD, ASS1, OTC
7orotic aciduria type 110.7
8hereditary orotic aciduria without megaloblastic anaemia10.4
9lesch-nyhan syndrome10.1
11xeroderma pigmentosum10.1
13short bowel syndrome10.1
14purine nucleoside phosphorylase deficiency10.1
15megaloblastic anemia10.1
16congenital hypogammaglobulinemia10.1
17hepatitis a10.1
18hepatic encephalopathy10.1
19herpes simplex10.1
20adenosine deaminase deficiency10.0
21reye syndrome10.0OTC
24bladder carcinoma10.0ODC1
25rectal neoplasm10.0DPYD, UMPS
26eye disease10.0OAT, OTC
27propionic acidemia10.0OTC, ASS1
28brain disease10.0OTC, DPYD
29carbamoyl phosphate synthetase i deficiency disease10.0ASS1, OTC
30squamous cell carcinoma10.0ODC1, DPYD
31stomach cancer10.0ODC1, UMPS, DPYD
32citrullinemia10.0ASL, ASS1, OTC
33hyperargininemia10.0ASL, ASS1, OTC
34colorectal cancer10.0ODC1, UMPS, DPYD
35kidney cancer10.0ASS1, DPYD, UMPS
36non-small cell lung carcinoma10.0UMPS, ODC1, DPYD
37hyperammonemia multi-gene panels10.0ASS1, ASL, OAT, OTC
38metabolic syndrome x10.0OTC, DPYD, ASS1, OAT

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

Diseases related to orotic aciduria

Clinical Features for Orotic Aciduria

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46OMIM, 48Orphanet
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Clinical features from OMIM:


Clinical synopsis from OMIM:



48 (show all 16)
  • immunodeficiency/increased susceptibility to infections/recurrent infections
  • hip dislocation/dysplasia/coxa valga/coxa vara/coxa plana
  • megaureter/hydronephrosis/pyeloureteral junction syndrome
  • patent ductus arteriosus
  • repeat respiratory infections
  • splenomegaly
  • storage liver disease
  • abnormal toenails
  • low set ears/posteriorly rotated ears
  • broad nasal root
  • downslanted palpebral fissures/anti-mongoloid slanting palpebral fissures
  • hypertelorism
  • autosomal recessive inheritance
  • aminoacid metabolism anomalies/aminoaciduria
  • anaemia
  • intellectual deficit/mental/psychomotor retardation/learning disability

Drugs & Therapeutics for Orotic Aciduria

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Orotic Aciduria

Drug clinical trials:

Search ClinicalTrials for Orotic Aciduria

Search NIH Clinical Center for Orotic Aciduria

Search CenterWatch for Orotic Aciduria

Genetic Tests for Orotic Aciduria

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20GeneTests, 22GTR
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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:


Animal Models for Orotic Aciduria or affiliated genes

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Publications for Orotic Aciduria

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Genetic Variations for Orotic Aciduria

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Genetic disease variations for Orotic Aciduria:

id Symbol AA change Variation ID SNP ID

Expression for genes affiliated with Orotic Aciduria

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Orotic Aciduria

Search GEO for disease gene expression data for Orotic Aciduria.

Pathways for genes affiliated with Orotic Aciduria

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37NCBI BioSystems Database, 53Reactome, 49PharmGKB, 29KEGG
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Compounds for genes affiliated with Orotic Aciduria

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44Novoseek, 24HMDB, 49PharmGKB, 28IUPHAR, 11DrugBank, 2BitterDB
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Compounds related to Orotic Aciduria according to GeneCards/GeneDecks:

(show top 50)    (show all 52)
idCompoundScoreTop Affiliating Genes
1orotidine44 2411.1UMPS, OTC
2potassium oxonate4410.0UMPS, DPYD
35-chloro-2,4-dihydroxypyridine4410.0UMPS, DPYD
45-fluoro-2-deoxyuridine-5-monophosphate4410.0UMPS, DPYD
5oxo4410.0UMPS, DPYD
6dihydrouracil44 2410.9UMPS, DPYD
7tegafur44 4910.9UMPS, DPYD
8l-ornithine28 1110.9OTC, OAT
9n-acetylglutamate449.9OTC, ASL
10poly u449.9DPYD, UMPS
11ecori449.9OAT, OTC
12prpp449.9UMPS, DPYD
13fudr449.8DPYD, UMPS
14fluorouracil49 1110.8UMPS, DPYD
15leucovorin44 49 1111.8DPYD, UMPS
16iron-sulfur449.8DPYD, OTC
17l-citrulline28 1110.6ASS1, OTC
18pyridoxal 5-phosphate449.6ODC1, OAT
19pyrimidine44 2410.6DPYD, OTC, UMPS
20malate449.5ASL, OTC
21Pyridoxal Phosphate119.5OAT, ODC1
22argininosuccinic acid44 2410.5ASS1, ASL
23guanidinoacetate449.5ASL, ASS1
245fluorouracil449.5UMPS, DPYD, OTC
25adenylosuccinate449.5DPYD, ASS1
26quinone44 2410.4DPYD, ODC1
27putrescine44 28 11 2412.4OAT, ODC1, OTC
28orotidine 5-monophosphate449.4UMPS, DPYD, ODC1
29oxaliplatin44 49 1111.4DPYD, ODC1
30l-arginine28 11 2411.4ASS1, ASL
31uridine44 11 2411.3UMPS, DPYD, ODC1
32thymidylate449.3ODC1, UMPS, DPYD
33xanthine44 2410.2DPYD, ODC1
34delta(1)pyrroline-5-carboxylate449.2OAT, OTC, ASS1
35phosphoenolpyruvate44 1110.2ASS1, OTC, OAT
36sodium benzoate49 210.2OTC, ASS1, ASL
37phenylacetic acid49 44 2411.2OTC, ASS1, ASL
38ammonium449.2ASS1, ASL, OTC
39citrulline44 2410.1ASL, OTC, ASS1
40thymidine44 2410.0ODC1, UMPS, DPYD
41glutamine448.8OAT, ASL, OTC, ODC1
42lactate448.8ODC1, UMPS, OTC
43urea44 11 2410.7ASL, ASS1, OTC, OAT
44orotic acid44 11 2410.5ODC1, OTC, UMPS, OAT, DPYD
45nitric oxide44 11 2410.4OTC, ASS1, ASL, ODC1
46carbamoyl phosphate448.3OTC, ASS1, ASL, OAT, UMPS
47arginine448.1OAT, ASL, ASS1, OTC, ODC1
48glutamate448.1OTC, ODC1, OAT, ASS1, ASL
49aspartate447.7ASS1, OTC, ASL, ODC1, UMPS, OAT
50ornithine44 248.6ODC1, DPYD, OTC, OAT, ASL, ASS1

GO Terms for genes affiliated with Orotic Aciduria

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16Gene Ontology
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Cellular components related to Orotic Aciduria according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cytosolGO:0058297.6ASL, ASS1, DPYD, UMPS, ODC1

Biological processes related to Orotic Aciduria according to GeneCards/GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1nucleobase-containing small molecule metabolic processGO:0550869.6DPYD, UMPS
2UMP biosynthetic processGO:0062229.5DPYD, UMPS
3pyrimidine nucleobase metabolic processGO:0062069.3DPYD, UMPS
4arginine biosynthetic processGO:0065269.2OTC, ASS1
5urea cycleGO:0000508.8ASL, ASS1, OTC
6cellular nitrogen compound metabolic processGO:0346417.8OAT, ASL, ASS1, OTC, ODC1
7small molecule metabolic processGO:0442816.9ODC1, UMPS, DPYD, OTC, ASS1, ASL

Products for genes affiliated with Orotic Aciduria

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Orotic Aciduria

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26ICD10 via Orphanet
35MESH via Orphanet
47OMIM via Orphanet
57SNOMED-CT via Orphanet
61UMLS via Orphanet