ORAC1
MCID: ORT008
MIFTS: 50

Orotic Aciduria (ORAC1)

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

Aliases & Classifications for Orotic Aciduria

MalaCards integrated aliases for Orotic Aciduria:

Name: Orotic Aciduria 57 12 75 37 29 13 55 6 15
Orotidylic Pyrophosphorylase and Orotidylic Decarboxylase Deficiency 57 53 75
Uridine Monophosphate Synthase Deficiency 57 53 75
Hereditary Orotic Aciduria 53 59 73
Umps Deficiency 57 53 75
Orotate Phosphoribosyltransferase and Orotidylic Decarboxylase Deficiency 57 75
Uridine Monophosphate Synthetase Deficiency 53 59
Oprt and Odc Deficiency 57 75
Ump Synthase Deficiency 57 75
Orotic Aciduria I 57 75
Oroticaciduria 1 53 75
Orotate Phosphoribosyltransferase and Omp Decarboxylase Deficiency 53
Orotidylic Decarboxylase Deficiency 59
Hereditary Orotic Aciduria, Type 1 73
Orotic Aciduria Hereditary 55
Ump Synthtase Deficiency 53
Orotic Aciduria Type 1 53
Orotic Aciduria Ii 73
Orotic Aciduria 1 75
Aciduria, Orotic 40
Oroticaciduria 59
Orac1 75
Umps 53

Characteristics:

Orphanet epidemiological data:

59
hereditary orotic aciduria
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: any age;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
orotic aciduria:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Orotic Aciduria

NIH Rare Diseases : 53 Orotic aciduria type I (OA1), also known as hereditary orotic aciduria, is a rare condition characterized by elevated levels of orotic acid in the urine. It typically becomes apparent in the first months of life with megaloblastic anemia, as well as delays in physical and intellectual development. OA1 is caused by changes (mutations) in the UMPS gene and inheritance is autosomal recessive. OA1 differs from other causes of orotic aciduria, which may include mitochondrial disorders, lysinuric protein intolerance, and liver disease. Treatment involves taking uridine; uridine triacetate was granted FDA approval for treating OA1 in 2015. Without treatment, children with OA1 may experience neutropenia, failure to thrive, developmental delay, and intellectual disability.

MalaCards based summary : Orotic Aciduria, also known as orotidylic pyrophosphorylase and orotidylic decarboxylase deficiency, is related to lysinuric protein intolerance and colorectal cancer 5. An important gene associated with Orotic Aciduria is UMPS (Uridine Monophosphate Synthetase), and among its related pathways/superpathways are Pyrimidine metabolism and Metabolism. Affiliated tissues include liver, t cells and testes, and related phenotypes are hypertelorism and global developmental delay

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

OMIM : 57 Orotic aciduria is a rare autosomal recessive disorder characterized by megaloblastic anemia and orotic acid crystalluria that is frequently associated with some degree of physical and mental retardation. These features respond to appropriate pyrimidine replacement therapy, and most cases appear to have a good prognosis. A minority of cases have additional features, particularly congenital malformations and immune deficiencies, which may adversely affect this prognosis (summary by Webster et al., 2001). Bailey (2009) stated that only 2 cases of orotic aciduria without megaloblastic anemia (OAWA) had been reported. (258900)

UniProtKB/Swiss-Prot : 75 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 : 76 Orotic aciduria (AKA hereditary orotic aciduria) is a disease caused by an enzyme deficiency resulting... more...

Related Diseases for Orotic Aciduria

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

(show all 45)
# Related Disease Score Top Affiliating Genes
1 lysinuric protein intolerance 32.1 ASL ASS1 SLC7A7
2 colorectal cancer 5 31.8 DPYD UMPS
3 ornithine transcarbamylase deficiency, hyperammonemia due to 31.6 ASL ASS1 DPYD OTC
4 dihydropyrimidine dehydrogenase deficiency 31.6 DPYD UMPS
5 pyrimidine metabolic disorder 30.1 DPYD UMPS
6 argininemia 29.6 ASL ASS1 OTC
7 argininosuccinic aciduria 29.6 ASL ASS1 OTC
8 hereditary orotic aciduria without megaloblastic anaemia 12.3
9 colorectal cancer 11.4
10 gastric cancer 11.4
11 gastric dilatation 11.2
12 megaloblastic anemia 10.2
13 renal oncocytoma 10.1
14 purine nucleoside phosphorylase deficiency 10.1
15 adenosine deaminase deficiency 10.1
16 childhood type dermatomyositis 10.1
17 respiratory syncytial virus infectious disease 10.1
18 influenza 10.1
19 hepatocellular carcinoma 10.1
20 xeroderma pigmentosum, variant type 10.1
21 lesch-nyhan syndrome 10.1
22 lymphoma 10.1
23 xanthinuria 10.1
24 short bowel syndrome 10.1
25 heart disease 10.1
26 hepatic encephalopathy 10.1
27 epilepsy 10.1
28 hyperuricemia 10.1
29 agammaglobulinemia 10.1
30 herpes simplex 10.1
31 homocystinuria 10.1
32 hereditary xanthinuria 10.1
33 encephalopathy 10.1
34 breast cancer 10.0
35 taqi polymorphism 10.0
36 papillary carcinoma 10.0
37 follicular adenoma 10.0
38 adenoma 10.0
39 postpartum psychosis 9.9 ASS1 OTC
40 carbamoyl phosphate synthetase i deficiency, hyperammonemia due to 9.9 ASS1 OTC
41 citrullinemia, classic 9.9 ASS1 OTC
42 carbonic anhydrase va deficiency, hyperammonemia due to 9.8 ASS1 OTC
43 reye syndrome 9.8 ASS1 OTC
44 propionic acidemia 9.7 ASS1 OTC
45 urea cycle disorder 9.7 ASL ASS1 OTC

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



Diseases related to Orotic Aciduria

Symptoms & Phenotypes for Orotic Aciduria

Symptoms via clinical synopsis from OMIM:

57
Laboratory Abnormalities:
hematuria
orotic acid crystalluria
orotic aciduria

Metabolic Features:
orotic aciduria

Cardiovascular Heart:
atrial septal defect (in 1 patient)
ventricular septal defect (in 1 patient)

Neurologic Central Nervous System:
developmental delay (in some patients)

Hematology:
megaloblastic anemia
poikilocytosis
anisocytosis
hypochromia
platelet count normal
more
Growth Other:
failure to thrive (in some patients)

Genitourinary:
orotic acid urinary obstruction

Immunology:
t-cell dysfunction, variable (in some patients)


Clinical features from OMIM:

258900

Human phenotypes related to Orotic Aciduria:

59 32 (show all 25)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 59 32 frequent (33%) Frequent (79-30%) HP:0000316
2 global developmental delay 59 32 occasional (7.5%) Very frequent (99-80%) HP:0001263
3 hip dysplasia 59 32 frequent (33%) Frequent (79-30%) HP:0001385
4 splenomegaly 59 32 frequent (33%) Frequent (79-30%) HP:0001744
5 recurrent respiratory infections 59 32 frequent (33%) Frequent (79-30%) HP:0002205
6 wide nasal bridge 59 32 frequent (33%) Frequent (79-30%) HP:0000431
7 aminoaciduria 59 32 hallmark (90%) Very frequent (99-80%) HP:0003355
8 anemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001903
9 patent ductus arteriosus 59 32 frequent (33%) Frequent (79-30%) HP:0001643
10 low-set, posteriorly rotated ears 59 32 frequent (33%) Frequent (79-30%) HP:0000368
11 downslanted palpebral fissures 59 32 frequent (33%) Frequent (79-30%) HP:0000494
12 impaired t cell function 59 32 occasional (7.5%) Frequent (79-30%) HP:0005435
13 abnormality of the ureter 59 32 frequent (33%) Frequent (79-30%) HP:0000069
14 abnormal toenail morphology 59 32 frequent (33%) Frequent (79-30%) HP:0008388
15 oroticaciduria 59 32 hallmark (90%) Very frequent (99-80%) HP:0003218
16 orotic acid crystalluria 59 32 hallmark (90%) Very frequent (99-80%) HP:0003526
17 failure to thrive 32 occasional (7.5%) HP:0001508
18 atrial septal defect 32 occasional (7.5%) HP:0001631
19 hematuria 32 HP:0000790
20 ventricular septal defect 32 occasional (7.5%) HP:0001629
21 folate-unresponsive megaloblastic anemia 32 HP:0004826
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:

46
# 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:


# Name Status NCT ID Phase Drugs
1 Open-Label Study of Uridine Triacetate in Pediatric Patients With Hereditary Orotic Aciduria Completed NCT02110147 Phase 3 uridine triacetate

Search NIH Clinical Center for Orotic Aciduria

Genetic Tests for Orotic Aciduria

Genetic tests related to Orotic Aciduria:

# Genetic test Affiliating Genes
1 Orotic Aciduria 29 UMPS

Anatomical Context for Orotic Aciduria

MalaCards organs/tissues related to Orotic Aciduria:

41
Liver, T Cells, Testes, Heart, B Cells

Publications for Orotic Aciduria

Articles related to Orotic Aciduria:

(show top 50) (show all 83)
# Title Authors Year
1
Conditional disruption of hepatic carbamoyl phosphate synthetase 1 in mice results in hyperammonemia without orotic aciduria and can be corrected by liver-directed gene therapy. ( 29801986 )
2018
2
Mild orotic aciduria in UMPS heterozygotes: a metabolic finding without clinical consequences. ( 28205048 )
2017
3
In brief: Uridine triacetate (Xuriden) for hereditary orotic aciduria. ( 27027693 )
2016
4
Hereditary Orotic Aciduria and the Excretion of Orotidine. ( 27574833 )
2016
5
Hereditary Orotic Aciduria with Epilepsy and without Megaloblastic Anemia. ( 25757096 )
2015
6
A Caenorhabditis elegans model of orotic aciduria reveals enlarged lysosome-related organelles in embryos lacking umps-1 function. ( 20148972 )
2010
7
Orotic aciduria and uridine monophosphate synthase: a reappraisal. ( 19562503 )
2009
8
Japanese black cattle with orotic aciduria detected by gas-chromatography/mass-spectrometry. ( 17409652 )
2007
9
Orotic aciduria and plasma urea cycle-related amino acid alterations in short bowel syndrome, evoked by an arginine-free diet. ( 15449570 )
2004
10
Decreased fluorouracil cytotoxic effect on EB-virus transformed lymphocytes from hereditary orotic aciduria. ( 10851269 )
2000
11
Uracil phosphoribosyltransferase activity in hereditary orotic aciduria. ( 10404744 )
1999
12
Hereditary orotic aciduria heterozygotes accompanied with neurological symptoms. ( 9710947 )
1998
13
Molecular cloning of the human UMP synthase gene and characterization of point mutations in two hereditary orotic aciduria families. ( 9042911 )
1997
14
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
15
Mutation of ornithine transcarbamylase (H136R) in a girl with severe intermittent orotic aciduria but normal enzyme activity. ( 9266387 )
1997
16
Benign persistent orotic aciduria and the possibility of misdiagnosis of ornithine carbamoyltransferase deficiency. ( 9266354 )
1997
17
Pyrimidine metabolism in hereditary orotic aciduria. ( 9061575 )
1997
18
A rapid and simple screening method for detection of orotic aciduria by capillary zone electrophoresis. ( 9086295 )
1997
19
Nucleotide pool imbalances in the livers of patients with urea cycle disorders associated with increased levels of orotic aciduria. ( 7773204 )
1995
20
Decreased hyperammonaemia and orotic aciduria due to inactivation of ornithine aminotransferase in mice with a hereditary abnormal ornithine carbamoyltransferase. ( 7707692 )
1994
21
Quantitative analysis of amniotic fluid pyrimidines for the prenatal diagnosis of hereditary orotic aciduria. ( 8295404 )
1993
22
Mild orotic aciduria and uricosuria in severe trauma victims. ( 1902349 )
1991
23
First report of management and outcome of pregnancies associated with hereditary orotic aciduria. ( 1776631 )
1991
24
Urinary excretion of purines in sheep with experimental orotic aciduria. ( 1907065 )
1991
25
Orotic aciduria fibroblasts express a labile form of UMP synthase. ( 2475503 )
1989
26
Orotic aciduria due to arginine deprivation: changes in the levels of carbamoyl phosphate and of other urea cycle intermediates in mouse liver. ( 2778543 )
1989
27
Hypogammaglobulinemia in orotic aciduria. ( 2754565 )
1989
28
Urinary purines, pyrimidines and nucleosides in uridine-treated orotic aciduria. ( 3390959 )
1988
29
Hepatic encephalopathy and orotic aciduria associated with hepatocellular carcinoma in a noncirrhotic liver. ( 2828214 )
1988
30
Analysis of UMP synthase gene and mRNA structure in hereditary orotic aciduria fibroblasts. ( 2837086 )
1988
31
Uridine-responsive hypogammaglobulinemia and congenital heart disease in a patient with hereditary orotic aciduria. ( 3183846 )
1988
32
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
33
An arginine-deficient diet in humans does not evoke hyperammonemia or orotic aciduria. ( 3668688 )
1987
34
Effect of glycine on the induction of orotic aciduria and urinary bladder tumorigenesis in the rat. ( 3616403 )
1987
35
Deficiency of UMP synthase in dairy cattle: a model for hereditary orotic aciduria. ( 2448544 )
1987
36
The role of hepatic ornithine transcarbamylase deficiency in the orotic aciduria of pregnant mice. ( 3732588 )
1986
37
Orotic aciduria, homocystinuria, formiminoglutamic aciduria and megaloblastosis associated with the formiminotransferase/cyclodeaminase deficiency. ( 3728187 )
1986
38
Hereditary orotic aciduria: further biochemistry. ( 3487927 )
1986
39
Orotic aciduria and species specificity. ( 6384838 )
1984
40
Absence of immune deficiency in hereditary orotic aciduria. ( 6717503 )
1984
41
Hyperammonemia and orotic aciduria in portacaval-shunted rats. ( 6693980 )
1984
42
Cellular immune deficiency in two siblings with hereditary orotic aciduria. ( 6828110 )
1983
43
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
44
Hereditary orotic aciduria: a defect of pyrimidine metabolism with cellular immunodeficiency. ( 6606448 )
1983
45
Neonatal diagnosis of orotic aciduria: an experience with one family. ( 6848734 )
1983
46
Argininemia: report of a new case and mechanisms of orotic aciduria and hyperammonemia. ( 7164892 )
1982
47
Orotic aciduria caused by feeding excess lysine to growing rats. ( 6793701 )
1981
48
Orotic aciduria in lysinuric protein intolerance: dependence on the urea cycle intermediates. ( 7254935 )
1981
49
Purine and pyrimidine metabolism in hereditary orotic aciduria: some unexpected effects of allopurinol. ( 6775961 )
1980
50
Orotic aciduria and increased nitrogen catabolism in rats. ( 501442 )
1979

Variations for Orotic Aciduria

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

75
# 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 (show top 50) (show all 275)
# Gene Variation Type Significance SNP ID Assembly Location
1 UMPS NM_000373.3(UMPS): c.286A> G (p.Arg96Gly) single nucleotide variant no interpretation for the single variant rs121917890 GRCh37 Chromosome 3, 124454069: 124454069
2 UMPS NM_000373.3(UMPS): c.286A> G (p.Arg96Gly) single nucleotide variant no interpretation for the single variant rs121917890 GRCh38 Chromosome 3, 124735222: 124735222
3 UMPS NM_000373.3(UMPS): c.326T> G (p.Val109Gly) single nucleotide variant Pathogenic rs121917892 GRCh37 Chromosome 3, 124456430: 124456430
4 UMPS NM_000373.3(UMPS): c.326T> G (p.Val109Gly) single nucleotide variant Pathogenic rs121917892 GRCh38 Chromosome 3, 124737583: 124737583
5 UMPS NM_000373.3(UMPS): c.1285G> C (p.Gly429Arg) single nucleotide variant no interpretation for the single variant rs121917891 GRCh37 Chromosome 3, 124462773: 124462773
6 UMPS NM_000373.3(UMPS): c.1285G> C (p.Gly429Arg) single nucleotide variant no interpretation for the single variant rs121917891 GRCh38 Chromosome 3, 124743926: 124743926
7 UMPS NM_000373.3(UMPS): c.-110A> G single nucleotide variant Benign rs2279198 GRCh37 Chromosome 3, 124449209: 124449209
8 UMPS NM_000373.3(UMPS): c.-110A> G single nucleotide variant Benign rs2279198 GRCh38 Chromosome 3, 124730362: 124730362
9 UMPS NM_000373.3(UMPS): c.-110A> G single nucleotide variant Benign rs2279198 NCBI36 Chromosome 3, 125931899: 125931899
10 UMPS NM_000373.3(UMPS): c.-67T> C single nucleotide variant Benign rs2279199 GRCh37 Chromosome 3, 124449252: 124449252
11 UMPS NM_000373.3(UMPS): c.-67T> C single nucleotide variant Benign rs2279199 GRCh38 Chromosome 3, 124730405: 124730405
12 UMPS NM_000373.3(UMPS): c.-67T> C single nucleotide variant Benign rs2279199 NCBI36 Chromosome 3, 125931942: 125931942
13 UMPS NM_000373.3(UMPS): c.-28A> G single nucleotide variant Benign rs1139538 GRCh37 Chromosome 3, 124449291: 124449291
14 UMPS NM_000373.3(UMPS): c.-28A> G single nucleotide variant Benign rs1139538 GRCh38 Chromosome 3, 124730444: 124730444
15 UMPS NM_000373.3(UMPS): c.-28A> G single nucleotide variant Benign rs1139538 NCBI36 Chromosome 3, 125931981: 125931981
16 UMPS NM_000373.3(UMPS): c.638G> C (p.Gly213Ala) single nucleotide variant drug response rs1801019 GRCh37 Chromosome 3, 124456742: 124456742
17 UMPS NM_000373.3(UMPS): c.638G> C (p.Gly213Ala) single nucleotide variant drug response rs1801019 GRCh38 Chromosome 3, 124737895: 124737895
18 UMPS NM_000373.3(UMPS): c.638G> C (p.Gly213Ala) single nucleotide variant drug response rs1801019 NCBI36 Chromosome 3, 125939432: 125939432
19 UMPS NM_000373.3(UMPS): c.1050T> A (p.Val350=) single nucleotide variant Likely benign rs2291078 GRCh37 Chromosome 3, 124458938: 124458938
20 UMPS NM_000373.3(UMPS): c.1050T> A (p.Val350=) single nucleotide variant Likely benign rs2291078 GRCh38 Chromosome 3, 124740091: 124740091
21 UMPS NM_000373.3(UMPS): c.1050T> A (p.Val350=) single nucleotide variant Likely benign rs2291078 NCBI36 Chromosome 3, 125941628: 125941628
22 UMPS NM_000373.3(UMPS): c.88A> G (p.Ser30Gly) single nucleotide variant Benign/Likely benign rs17843776 GRCh38 Chromosome 3, 124730559: 124730559
23 UMPS NM_000373.3(UMPS): c.88A> G (p.Ser30Gly) single nucleotide variant Benign/Likely benign rs17843776 GRCh37 Chromosome 3, 124449406: 124449406
24 UMPS NM_000373.3(UMPS): c.1320C> T (p.Gly440=) single nucleotide variant Benign rs13146 GRCh37 Chromosome 3, 124462808: 124462808
25 UMPS NM_000373.3(UMPS): c.1320C> T (p.Gly440=) single nucleotide variant Benign rs13146 GRCh38 Chromosome 3, 124743961: 124743961
26 UMPS NM_000373.3(UMPS): c.1157C> T (p.Ala386Val) single nucleotide variant Uncertain significance rs202158549 GRCh37 Chromosome 3, 124459045: 124459045
27 UMPS NM_000373.3(UMPS): c.1157C> T (p.Ala386Val) single nucleotide variant Uncertain significance rs202158549 GRCh38 Chromosome 3, 124740198: 124740198
28 UMPS NM_000373.3(UMPS): c.1374T> C (p.Asp458=) single nucleotide variant Uncertain significance rs200608473 GRCh37 Chromosome 3, 124462862: 124462862
29 UMPS NM_000373.3(UMPS): c.1374T> C (p.Asp458=) single nucleotide variant Uncertain significance rs200608473 GRCh38 Chromosome 3, 124744015: 124744015
30 UMPS NM_000373.3(UMPS): c.*28A> G single nucleotide variant Likely benign rs3772810 GRCh37 Chromosome 3, 124462959: 124462959
31 UMPS NM_000373.3(UMPS): c.*28A> G single nucleotide variant Likely benign rs3772810 GRCh38 Chromosome 3, 124744112: 124744112
32 UMPS NM_000373.3(UMPS): c.*56delT deletion Likely benign rs3836305 GRCh37 Chromosome 3, 124462987: 124462987
33 UMPS NM_000373.3(UMPS): c.*56delT deletion Likely benign rs3836305 GRCh38 Chromosome 3, 124744140: 124744140
34 UMPS NM_000373.3(UMPS): c.*691C> G single nucleotide variant Uncertain significance rs886057872 GRCh37 Chromosome 3, 124463622: 124463622
35 UMPS NM_000373.3(UMPS): c.*691C> G single nucleotide variant Uncertain significance rs886057872 GRCh38 Chromosome 3, 124744775: 124744775
36 UMPS NM_000373.3(UMPS): c.*725A> T single nucleotide variant Benign rs2242247 GRCh37 Chromosome 3, 124463656: 124463656
37 UMPS NM_000373.3(UMPS): c.*725A> T single nucleotide variant Benign rs2242247 GRCh38 Chromosome 3, 124744809: 124744809
38 UMPS NM_000373.3(UMPS): c.*983C> T single nucleotide variant Likely benign rs11706036 GRCh37 Chromosome 3, 124463914: 124463914
39 UMPS NM_000373.3(UMPS): c.*983C> T single nucleotide variant Likely benign rs11706036 GRCh38 Chromosome 3, 124745067: 124745067
40 UMPS NM_000373.3(UMPS): c.*1080A> G single nucleotide variant Uncertain significance rs780894047 GRCh38 Chromosome 3, 124745164: 124745164
41 UMPS NM_000373.3(UMPS): c.*1080A> G single nucleotide variant Uncertain significance rs780894047 GRCh37 Chromosome 3, 124464011: 124464011
42 UMPS NM_000373.3(UMPS): c.*1088T> G single nucleotide variant Uncertain significance rs535422876 GRCh38 Chromosome 3, 124745172: 124745172
43 UMPS NM_000373.3(UMPS): c.*1088T> G single nucleotide variant Uncertain significance rs535422876 GRCh37 Chromosome 3, 124464019: 124464019
44 UMPS NM_000373.3(UMPS): c.*1211C> A single nucleotide variant Benign rs11706118 GRCh38 Chromosome 3, 124745295: 124745295
45 UMPS NM_000373.3(UMPS): c.*1211C> A single nucleotide variant Benign rs11706118 GRCh37 Chromosome 3, 124464142: 124464142
46 UMPS NM_000373.3(UMPS): c.*1299delT deletion Benign rs11330991 GRCh38 Chromosome 3, 124745383: 124745383
47 UMPS NM_000373.3(UMPS): c.*1299delT deletion Benign rs11330991 GRCh37 Chromosome 3, 124464230: 124464230
48 UMPS NM_000373.3(UMPS): c.*1342C> T single nucleotide variant Uncertain significance rs183081203 GRCh38 Chromosome 3, 124745426: 124745426
49 UMPS NM_000373.3(UMPS): c.*1342C> T single nucleotide variant Uncertain significance rs183081203 GRCh37 Chromosome 3, 124464273: 124464273
50 UMPS NM_000373.3(UMPS): c.*1517C> A single nucleotide variant Uncertain significance rs74477033 GRCh38 Chromosome 3, 124745601: 124745601

Expression for Orotic Aciduria

Search GEO for disease gene expression data for Orotic Aciduria.

Pathways for Orotic Aciduria

Pathways related to Orotic Aciduria according to KEGG:

37
# Name Kegg Source Accession
1 Pyrimidine metabolism hsa00240

GO Terms for Orotic Aciduria

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

# Name GO ID Score Top Affiliating Genes
1 liver development GO:0001889 9.43 ASS1 OTC
2 cellular amino acid metabolic process GO:0006520 9.43 ASL OTC SLC7A7
3 response to zinc ion GO:0010043 9.4 ASS1 OTC
4 midgut development GO:0007494 9.37 ASS1 OTC
5 cellular amino acid biosynthetic process GO:0008652 9.33 ASL ASS1 OTC
6 arginine biosynthetic process via ornithine GO:0042450 9.32 ASL OTC
7 urea cycle GO:0000050 9.13 ASL ASS1 OTC
8 arginine biosynthetic process GO:0006526 8.8 ASL ASS1 OTC

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

# 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
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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