ORAC1
MCID: ORT008
MIFTS: 55

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 56 12 73 36 29 13 54 6 15
Orotidylic Pyrophosphorylase and Orotidylic Decarboxylase Deficiency 56 52 73
Uridine Monophosphate Synthase Deficiency 56 52 73
Hereditary Orotic Aciduria 52 58 71
Umps Deficiency 56 52 73
Orotate Phosphoribosyltransferase and Orotidylic Decarboxylase Deficiency 56 73
Uridine Monophosphate Synthetase Deficiency 52 58
Oprt and Odc Deficiency 56 73
Ump Synthase Deficiency 56 73
Orotic Aciduria I 56 73
Oroticaciduria 1 52 73
Orotate Phosphoribosyltransferase and Omp Decarboxylase Deficiency 52
Hereditary Orotic Aciduria Without Megaloblastic Anemia 52
Orotidylic Decarboxylase Deficiency 58
Hereditary Orotic Aciduria, Type 1 71
Orotic Aciduria Hereditary 54
Ump Synthtase Deficiency 52
Orotic Aciduria Type 1 52
Orotic Aciduria Ii 71
Orotic Aciduria 1 73
Aciduria, Orotic 39
Orac1 73
Umps 52

Characteristics:

Orphanet epidemiological data:

58
hereditary orotic aciduria
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: any age;

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
orotic aciduria:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Inborn errors of metabolism
Rare haematological diseases


External Ids:

Disease Ontology 12 DOID:0050833
OMIM 56 258900
KEGG 36 H00198
MeSH 43 D011686
MESH via Orphanet 44 C537136
ICD10 via Orphanet 33 E79.8
UMLS via Orphanet 72 C0220987 C0268130
Orphanet 58 ORPHA30
UMLS 71 C0220987 C0268130 C0268131

Summaries for Orotic Aciduria

NIH Rare Diseases : 52 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 postaxial acrofacial dysostosis and ornithine transcarbamylase deficiency, hyperammonemia due to. 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 global developmental delay and aminoaciduria

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

OMIM : 56 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)

KEGG : 36 Orotic aciduria is characterized by megaloblastic anemia that is unresponsive to vitamin B12 and folic acid.

UniProtKB/Swiss-Prot : 73 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 : 74 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 top 50) (show all 88)
# Related Disease Score Top Affiliating Genes
1 postaxial acrofacial dysostosis 31.5 UMPS DHODH
2 ornithine transcarbamylase deficiency, hyperammonemia due to 31.4 OTC NAGS DPYD CPS1 ASS1 ASL
3 lysinuric protein intolerance 31.0 SLC7A8 SLC7A7 PRODH OTC NAGS ASS1
4 carbonic anhydrase va deficiency, hyperammonemia due to 30.3 OTC NAGS CPS1 ASS1
5 argininosuccinic aciduria 29.0 SLC7A7 OTC NAGS CPS1 ASS1 ASL
6 citrullinemia, classic 29.0 SLC7A7 OTC NAGS CPS1 ASS1 ASL
7 urea cycle disorder 28.8 SLC7A7 PRODH OTC NAGS CPS1 ASS1
8 argininemia 28.6 SLC7A7 PRODH OTC NAGS CPS1 ASS1
9 pyrimidine metabolic disorder 26.1 UPRT UMPS TMPPE SLC7A7 PRODH OTC
10 colorectal cancer 11.6
11 gastric cancer 11.5
12 arts syndrome 11.1
13 charcot-marie-tooth disease, x-linked recessive, 5 11.1
14 adenine phosphoribosyltransferase deficiency 11.1
15 polycystic kidney disease 4 11.1
16 spinal canal intradural extramedullary neoplasm 11.1
17 endobronchial leiomyoma 11.1
18 megaloblastic anemia 10.4
19 autosomal recessive disease 10.3
20 renal oncocytoma 10.3
21 thyroid carcinoma 10.3
22 respiratory syncytial virus infectious disease 10.3
23 childhood type dermatomyositis 10.3
24 influenza 10.3
25 agammaglobulinemia 10.2
26 thyroid cancer, nonmedullary, 1 10.2
27 follicular adenoma 10.2
28 posttransplant acute limbic encephalitis 10.2
29 postpartum psychosis 10.2 OTC ASS1
30 burkitt lymphoma 10.1
31 glutamate formiminotransferase deficiency 10.1
32 immune deficiency disease 10.1
33 ocular motor apraxia 10.1
34 xeroderma pigmentosum, variant type 10.1
35 lesch-nyhan syndrome 10.1
36 anemia, x-linked, with or without neutropenia and/or platelet abnormalities 10.1
37 purine nucleoside phosphorylase deficiency 10.1
38 alacrima, achalasia, and mental retardation syndrome 10.1
39 deficiency anemia 10.1
40 xanthinuria 10.1
41 short bowel syndrome 10.1
42 neutropenia 10.1
43 hepatic coma 10.1
44 diarrhea 10.1
45 hepatic encephalopathy 10.1
46 epilepsy 10.1
47 hyperuricemia 10.1
48 cerebral palsy 10.1
49 lymphopenia 10.1
50 herpes simplex 10.1

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



Diseases related to Orotic Aciduria

Symptoms & Phenotypes for Orotic Aciduria

Human phenotypes related to Orotic Aciduria:

58 31 (show all 26)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 global developmental delay 58 31 occasional (7.5%) Very frequent (99-80%) HP:0001263
2 aminoaciduria 58 31 hallmark (90%) Very frequent (99-80%) HP:0003355
3 anemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001903
4 oroticaciduria 58 31 hallmark (90%) Very frequent (99-80%) HP:0003218
5 orotic acid crystalluria 58 31 hallmark (90%) Very frequent (99-80%) HP:0003526
6 splenomegaly 58 31 frequent (33%) Frequent (79-30%) HP:0001744
7 hypertelorism 58 31 frequent (33%) Frequent (79-30%) HP:0000316
8 hip dysplasia 58 31 frequent (33%) Frequent (79-30%) HP:0001385
9 recurrent respiratory infections 58 31 frequent (33%) Frequent (79-30%) HP:0002205
10 wide nasal bridge 58 31 frequent (33%) Frequent (79-30%) HP:0000431
11 downslanted palpebral fissures 58 31 frequent (33%) Frequent (79-30%) HP:0000494
12 low-set, posteriorly rotated ears 58 31 frequent (33%) Frequent (79-30%) HP:0000368
13 patent ductus arteriosus 58 31 frequent (33%) Frequent (79-30%) HP:0001643
14 impaired t cell function 58 31 occasional (7.5%) Frequent (79-30%) HP:0005435
15 abnormality of the ureter 58 31 frequent (33%) Frequent (79-30%) HP:0000069
16 abnormal toenail morphology 58 31 frequent (33%) Frequent (79-30%) HP:0008388
17 failure to thrive 31 occasional (7.5%) HP:0001508
18 atrial septal defect 31 occasional (7.5%) HP:0001631
19 ventricular septal defect 31 occasional (7.5%) HP:0001629
20 hematuria 31 HP:0000790
21 folate-unresponsive megaloblastic anemia 31 HP:0004826
22 poikilocytosis 31 HP:0004447
23 anisocytosis 31 HP:0011273
24 hypochromia 31 HP:0032231
25 reduced orotidine 5-prime phosphate decarboxylase level 31 HP:0003267
26 pyrimidine-responsive megaloblastic anemia 31 HP:0003339

Symptoms via clinical synopsis from OMIM:

56
Laboratory Abnormalities:
hematuria
orotic acid crystalluria
orotic aciduria

Metabolic Features:
orotic aciduria

Growth Other:
failure to thrive (in some patients)

Genitourinary:
orotic acid urinary obstruction

Hematology:
megaloblastic anemia
poikilocytosis
anisocytosis
hypochromia
platelet count normal
more
Neurologic Central Nervous System:
developmental delay (in some patients)

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

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

Clinical features from OMIM:

258900

MGI Mouse Phenotypes related to Orotic Aciduria:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.61 ASL ASS1 DPYD NAGS OAT OTC
2 integument MP:0010771 9.17 ASL ASS1 NAGS OAT OTC PRODH

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:

40
Liver, T Cells, Testes, Bone Marrow, Bone, Heart, Skin

Publications for Orotic Aciduria

Articles related to Orotic Aciduria:

(show top 50) (show all 199)
# Title Authors PMID Year
1
Molecular cloning of the human UMP synthase gene and characterization of point mutations in two hereditary orotic aciduria families. 6 56 54 61
9042911 1997
2
First report of management and outcome of pregnancies associated with hereditary orotic aciduria. 61 56
1776631 1991
3
Analysis of UMP synthase gene and mRNA structure in hereditary orotic aciduria fibroblasts. 61 56
2837086 1988
4
Deficiency of UMP synthase in dairy cattle: a model for hereditary orotic aciduria. 56 61
2448544 1987
5
Absence of immune deficiency in hereditary orotic aciduria. 56 61
6717503 1984
6
Cellular immune deficiency in two siblings with hereditary orotic aciduria. 56 61
6828110 1983
7
Consequences of UMP synthase deficiency in cattle. 61 56
6572893 1983
8
Hereditary orotic aciduria: evidence for a structural gene mutation. 61 56
4528586 1974
9
Hereditary orotic aciduria: types I and II. 61 56
4753642 1973
10
Hereditary orotic aciduria with normal growth and development. 61 56
5353014 1969
11
Hereditary orotic aciduria: long-term therapy with uridine and a trial of uracil. 56 61
5347440 1969
12
Orotic aciduria. Differing enzyme patterns. 56 61
5808247 1969
13
Hereditary orotic aciduria. I. A new case with family studies. 56 61
5677482 1968
14
Hereditary orotic aciduria. II. A urinary screening test. 56 61
5677483 1968
15
HEREDITARY OROTIC ACIDURIA--PYRIMIDINE AUXOTROPHISM IN MAN. 56 61
14247288 1965
16
A GENETIC STUDY OF HEREDITARY OROTIC ACIDURIA. 56 61
14110033 1964
17
Inborn errors of pyrimidine metabolism: clinical update and therapy. 52 61
25030255 2014
18
DUMPS cattle carry a point mutation in the uridine monophosphate synthase gene. 56
8486364 1993
19
Inheritance of UMP synthase in dairy cattle. 56
6548235 1984
20
Pyrimidine nucleotide biosynthesis in animals: genes, enzymes, and regulation of UMP biosynthesis. 56
6105839 1980
21
Refractory megaloblastic anemia associated with excretion of orotic acid. 56
13651334 1959
22
Prodrugs - Recent approvals and a glimpse of the pipeline. 52
28782609 2017
23
Molecular mechanisms underlying large genomic deletions in ornithine transcarbamylase (OTC) gene. 61 54
19475717 2009
24
Analysis of mRNA transcripts improves the success rate of molecular genetic testing in OTC deficiency. 61 54
18440262 2008
25
Orotic acid excretion and arginine metabolism. 61 54
17513443 2007
26
Long-term correction of ornithine transcarbamylase deficiency by WPRE-mediated overexpression using a helper-dependent adenovirus. 61 54
15336649 2004
27
Phenotype and genotype analyses of ornithine transcarbamylase deficiency in Taiwanese. 61 54
14976564 2003
28
An integrated approach to the diagnosis and prospective management of partial ornithine transcarbamylase deficiency. 54 61
11773558 2002
29
Decreased fluorouracil cytotoxic effect on EB-virus transformed lymphocytes from hereditary orotic aciduria. 61 54
10851269 2000
30
Mutation of ornithine transcarbamylase (H136R) in a girl with severe intermittent orotic aciduria but normal enzyme activity. 54 61
9266387 1997
31
Benign persistent orotic aciduria and the possibility of misdiagnosis of ornithine carbamoyltransferase deficiency. 61 54
9266354 1997
32
A novel two-nucleotide deletion in the ornithine transcarbamylase gene causing fatal hyperammonia in early pregnancy. 61 54
8938172 1996
33
Correction of ornithine transcarbamylase deficiency in adult spf(ash) mice and in OTC-deficient human hepatocytes with recombinant adenoviruses bearing the CAG promoter. 61 54
8860834 1996
34
Automated screening system for purine and pyrimidine metabolism disorders using high-performance liquid chromatography. 61 54
8581129 1995
35
Ornithine transcarbamylase deficiency in females: an often overlooked cause of treatable encephalopathy. 54 61
7499756 1995
36
An unusual presentation of medium-chain acyl coenzyme A dehydrogenase deficiency. 54 61
1456259 1992
37
Evaluation of the transfer and expression in mice of an enzyme-encoding gene using a human adenovirus vector. 61 54
2081192 1990
38
Ornithine Transcarbamylase Deficiency Presenting as Acute Liver Failure in Girls: A Paediatric Case Series. 61
32265410 2020
39
Isolated Orotic Aciduria in an 11-Year-Old Boy. 61
32040582 2020
40
Ion chromatographic method for the determination of orotic acid in urine. 61
30267708 2018
41
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. 61
29801986 2018
42
Mild orotic aciduria in UMPS heterozygotes: a metabolic finding without clinical consequences. 61
28205048 2017
43
Hereditary Orotic Aciduria and the Excretion of Orotidine. 61
27574833 2016
44
Orotate (orotic acid): An essential and versatile molecule. 61
27906623 2016
45
In brief: Uridine triacetate (Xuriden) for hereditary orotic aciduria. 61
27027693 2016
46
Clinical outcomes and the mutation spectrum of the OTC gene in patients with ornithine transcarbamylase deficiency. 61
25994866 2015
47
Sensitive and Selective Determination of Orotic Acid in Biological Specimens Using a Novel Fluorogenic Reaction. 61
26026930 2015
48
Orotic Acid, More Than Just an Intermediate of Pyrimidine de novo Synthesis. 61
26059769 2015
49
Hyperammonemia-induced encephalopathy: A rare devastating complication of bariatric surgery. 61
25954483 2015
50
Hereditary orotic aciduria with epilepsy and without megaloblastic anemia. 61
25757096 2015

Variations for Orotic Aciduria

ClinVar genetic disease variations for Orotic Aciduria:

6 (show top 50) (show all 194) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 UMPS NM_000373.4(UMPS):c.326T>G (p.Val109Gly)SNV Pathogenic 11907 rs121917892 3:124456430-124456430 3:124737583-124737583
2 UMPS NM_000373.4(UMPS):c.638G>C (p.Gly213Ala)SNV drug response 100127 rs1801019 3:124456742-124456742 3:124737895-124737895
3 UMPS NM_000373.4(UMPS):c.1123G>A (p.Gly375Ser)SNV Likely pathogenic 523038 rs1344899647 3:124459011-124459011 3:124740164-124740164
4 UMPS NM_000373.4(UMPS):c.495G>A (p.Ala165=)SNV Conflicting interpretations of pathogenicity 784598 3:124456599-124456599 3:124737752-124737752
5 UMPS NM_000373.4(UMPS):c.1290A>G (p.Gln430=)SNV Conflicting interpretations of pathogenicity 790937 3:124462778-124462778 3:124743931-124743931
6 UMPS NM_000373.4(UMPS):c.768A>G (p.Leu256=)SNV Conflicting interpretations of pathogenicity 721322 3:124456872-124456872 3:124738025-124738025
7 UMPS NM_000373.4(UMPS):c.126C>A (p.Gly42=)SNV Conflicting interpretations of pathogenicity 501885 rs143828400 3:124449444-124449444 3:124730597-124730597
8 UMPS NM_000373.4(UMPS):c.857T>A (p.Ile286Asn)SNV Conflicting interpretations of pathogenicity 342930 rs200305064 3:124456961-124456961 3:124738114-124738114
9 UMPS NM_000373.4(UMPS):c.953T>C (p.Ile318Thr)SNV Uncertain significance 342931 rs375535366 3:124457057-124457057 3:124738210-124738210
10 UMPS NM_000373.4(UMPS):c.-19A>GSNV Uncertain significance 342925 rs747117815 3:124449300-124449300 3:124730453-124730453
11 UMPS NM_000373.4(UMPS):c.*1418T>ASNV Uncertain significance 342961 rs886057874 3:124464349-124464349 3:124745502-124745502
12 UMPS NM_000373.4(UMPS):c.*1535G>ASNV Uncertain significance 342964 rs886057875 3:124464466-124464466 3:124745619-124745619
13 UMPS NM_000373.4(UMPS):c.*2172A>GSNV Uncertain significance 342970 rs886057877 3:124465103-124465103 3:124746256-124746256
14 UMPS NM_000373.4(UMPS):c.*2230C>TSNV Uncertain significance 342972 rs565272396 3:124465161-124465161 3:124746314-124746314
15 UMPS NM_000373.4(UMPS):c.*2632C>ASNV Uncertain significance 342978 rs886057879 3:124465563-124465563 3:124746716-124746716
16 UMPS NM_000373.4(UMPS):c.*2671T>GSNV Uncertain significance 342979 rs886057880 3:124465602-124465602 3:124746755-124746755
17 UMPS NM_000373.4(UMPS):c.*2703G>ASNV Uncertain significance 342986 rs886057883 3:124465634-124465634 3:124746787-124746787
18 UMPS NM_000373.4(UMPS):c.*2672_*2673TG[26]short repeat Uncertain significance 342985 rs58981387 3:124465602-124465603 3:124746755-124746756
19 UMPS NM_000373.4(UMPS):c.*2672_*2673TG[22]short repeat Uncertain significance 342980 rs58981387 3:124465602-124465603 3:124746755-124746756
20 UMPS NM_000373.4(UMPS):c.*2672_*2673TG[18]short repeat Uncertain significance 342984 rs58981387 3:124465603-124465608 3:124746756-124746761
21 UMPS NM_000373.4(UMPS):c.*2715_*2718deldeletion Uncertain significance 342987 rs886057884 3:124465643-124465646 3:124746796-124746799
22 UMPS NM_000373.4(UMPS):c.*3083G>TSNV Uncertain significance 342995 rs886057887 3:124466014-124466014 3:124747167-124747167
23 UMPS NM_000373.4(UMPS):c.*3193T>CSNV Uncertain significance 343000 rs886057889 3:124466124-124466124 3:124747277-124747277
24 UMPS NM_000373.4(UMPS):c.*3258A>CSNV Uncertain significance 343001 rs886057890 3:124466189-124466189 3:124747342-124747342
25 UMPS NM_000373.4(UMPS):c.*3367C>ASNV Uncertain significance 343004 rs768556841 3:124466298-124466298 3:124747451-124747451
26 UMPS NM_000373.4(UMPS):c.*3447T>CSNV Uncertain significance 343008 rs764528076 3:124466378-124466378 3:124747531-124747531
27 UMPS NM_000373.4(UMPS):c.*3495T>CSNV Uncertain significance 343009 rs886057891 3:124466426-124466426 3:124747579-124747579
28 UMPS NM_000373.4(UMPS):c.*4263T>CSNV Uncertain significance 343026 rs558675693 3:124467194-124467194 3:124748347-124748347
29 UMPS NM_000373.4(UMPS):c.*4496G>ASNV Uncertain significance 343033 rs886057896 3:124467427-124467427 3:124748580-124748580
30 UMPS NM_000373.4(UMPS):c.*4765_*4767deldeletion Uncertain significance 343037 rs886057897 3:124467694-124467696 3:124748847-124748849
31 UMPS NM_000373.4(UMPS):c.*691C>GSNV Uncertain significance 342940 rs886057872 3:124463622-124463622 3:124744775-124744775
32 UMPS NM_000373.4(UMPS):c.*1080A>GSNV Uncertain significance 342949 rs780894047 3:124464011-124464011 3:124745164-124745164
33 UMPS NM_000373.4(UMPS):c.*2410_*2412deldeletion Uncertain significance 342974 rs886057878 3:124465341-124465343 3:124746494-124746496
34 UMPS NM_000373.4(UMPS):c.*2672_*2673TG[25]short repeat Uncertain significance 342982 rs58981387 3:124465602-124465603 3:124746755-124746756
35 UMPS NM_000373.4(UMPS):c.*2716T>CSNV Uncertain significance 342988 rs886057885 3:124465647-124465647 3:124746800-124746800
36 UMPS NM_000373.4(UMPS):c.*1342C>TSNV Uncertain significance 342959 rs183081203 3:124464273-124464273 3:124745426-124745426
37 UMPS NM_000373.4(UMPS):c.*1517C>ASNV Uncertain significance 342962 rs74477033 3:124464448-124464448 3:124745601-124745601
38 UMPS NM_000373.4(UMPS):c.*4231A>GSNV Uncertain significance 343024 rs886057895 3:124467162-124467162 3:124748315-124748315
39 UMPS NM_000373.4(UMPS):c.*4755G>ASNV Uncertain significance 343036 rs189776179 3:124467686-124467686 3:124748839-124748839
40 UMPS NM_000373.4(UMPS):c.*4862A>GSNV Uncertain significance 343038 rs886057898 3:124467793-124467793 3:124748946-124748946
41 UMPS NM_000373.4(UMPS):c.441T>C (p.Thr147=)SNV Uncertain significance 342928 rs886057871 3:124456545-124456545 3:124737698-124737698
42 UMPS NM_000373.4(UMPS):c.*1153C>TSNV Uncertain significance 342951 rs768119744 3:124464084-124464084 3:124745237-124745237
43 UMPS NM_000373.4(UMPS):c.*1520deldeletion Uncertain significance 342963 rs758378045 3:124464451-124464451 3:124745604-124745604
44 UMPS NM_000373.4(UMPS):c.*1902G>ASNV Uncertain significance 342967 rs147465900 3:124464833-124464833 3:124745986-124745986
45 UMPS NM_000373.4(UMPS):c.703A>G (p.Arg235Gly)SNV Uncertain significance 844353 3:124456807-124456807 3:124737960-124737960
46 UMPS NM_000373.4(UMPS):c.1418_1419del (p.Ala473fs)deletion Uncertain significance 845430 3:124462905-124462906 3:124744058-124744059
47 UMPS NM_000373.4(UMPS):c.105C>T (p.Pro35=)SNV Uncertain significance 903540 3:124449423-124449423 3:124730576-124730576
48 UMPS NM_000373.4(UMPS):c.799T>C (p.Leu267=)SNV Uncertain significance 903541 3:124456903-124456903 3:124738056-124738056
49 UMPS NM_000373.4(UMPS):c.811G>C (p.Asp271His)SNV Uncertain significance 903542 3:124456915-124456915 3:124738068-124738068
50 UMPS NM_000373.4(UMPS):c.1052T>C (p.Val351Ala)SNV Uncertain significance 899939 3:124458940-124458940 3:124740093-124740093

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

73
# 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

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:

36
# Name Kegg Source Accession
1 Pyrimidine metabolism hsa00240

Pathways related to Orotic Aciduria according to GeneCards Suite gene sharing:

(show all 12)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.75 UPRT UMPS PRODH OTC ODC1 OAT
2
Show member pathways
13.44 PRODH OTC ODC1 OAT NAGS CPS1
3
Show member pathways
12.47 UPRT UMPS DPYD DHODH
4
Show member pathways
11.98 OTC NAGS CPS1 ASS1 ASL
5 11.51 OTC ODC1 OAT CPS1 ASS1
6
Show member pathways
11.34 PRODH ODC1 OAT
7 11.1 CPS1 ASS1 ASL
8
Show member pathways
11.03 SLC7A8 SLC7A7
9 10.89 SLC7A8 SLC7A7
10
Show member pathways
10.77 OTC NAGS CPS1 ASS1 ASL
11
Show member pathways
10.57 ASS1 ASL
12
Show member pathways
10.55 OTC ODC1 OAT NAGS CPS1 ASS1

GO Terms for Orotic Aciduria

Cellular components related to Orotic Aciduria according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10 UPRT UMPS SLC7A8 OTC ODC1 OAT
2 mitochondrion GO:0005739 9.5 PRODH OTC OAT NAGS DHODH CPS1
3 mitochondrial inner membrane GO:0005743 9.46 PRODH OTC DHODH CPS1
4 mitochondrial matrix GO:0005759 9.02 PRODH OTC OAT NAGS CPS1

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

(show all 28)
# Name GO ID Score Top Affiliating Genes
1 response to drug GO:0042493 9.89 OTC DHODH CPS1 ASS1
2 response to toxic substance GO:0009636 9.76 SLC7A8 CPS1 ASS1
3 female pregnancy GO:0007565 9.74 UPRT UMPS DHODH
4 liver development GO:0001889 9.73 OTC CPS1 ASS1
5 lactation GO:0007595 9.71 UPRT UMPS DHODH
6 response to starvation GO:0042594 9.64 DHODH CPS1
7 amino acid transmembrane transport GO:0003333 9.63 SLC7A8 SLC7A7
8 response to amino acid GO:0043200 9.63 CPS1 ASS1
9 response to steroid hormone GO:0048545 9.62 CPS1 ASS1
10 cellular response to glucagon stimulus GO:0071377 9.62 CPS1 ASS1
11 nucleoside metabolic process GO:0009116 9.61 UPRT UMPS
12 L-alpha-amino acid transmembrane transport GO:1902475 9.61 SLC7A8 SLC7A7
13 response to growth hormone GO:0060416 9.6 CPS1 ASS1
14 response to amine GO:0014075 9.58 CPS1 ASS1
15 response to zinc ion GO:0010043 9.58 OTC CPS1 ASS1
16 cellular amino acid biosynthetic process GO:0008652 9.56 OTC OAT ASS1 ASL
17 pyrimidine nucleotide biosynthetic process GO:0006221 9.55 UMPS DHODH
18 citrulline biosynthetic process GO:0019240 9.52 OTC CPS1
19 UMP biosynthetic process GO:0006222 9.51 UPRT UMPS
20 midgut development GO:0007494 9.5 OTC CPS1 ASS1
21 cellular response to oleic acid GO:0071400 9.49 CPS1 ASS1
22 pyrimidine nucleoside biosynthetic process GO:0046134 9.48 UMPS DHODH
23 'de novo' UMP biosynthetic process GO:0044205 9.46 UMPS DHODH
24 arginine biosynthetic process via ornithine GO:0042450 9.43 OTC ASL
25 anion homeostasis GO:0055081 9.37 OTC CPS1
26 'de novo' pyrimidine nucleobase biosynthetic process GO:0006207 9.33 UMPS DHODH CPS1
27 arginine biosynthetic process GO:0006526 9.26 OTC NAGS ASS1 ASL
28 urea cycle GO:0000050 9.02 OTC NAGS CPS1 ASS1 ASL

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

# Name GO ID Score Top Affiliating Genes
1 lyase activity GO:0016829 9.5 UMPS ODC1 ASL
2 oxidoreductase activity, acting on the CH-CH group of donors GO:0016627 9.37 DPYD DHODH
3 carboxy-lyase activity GO:0016831 9.26 UMPS ODC1
4 catalytic activity GO:0003824 9.17 UMPS ODC1 OAT DPYD DHODH CPS1
5 amino acid binding GO:0016597 9.16 OTC ASS1
6 L-amino acid transmembrane transporter activity GO:0015179 8.96 SLC7A8 SLC7A7

Sources for Orotic Aciduria

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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