ORAC1
MCID: ORT008
MIFTS: 56

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 72 36 29 13 54 6 15
Orotidylic Pyrophosphorylase and Orotidylic Decarboxylase Deficiency 57 20 72
Uridine Monophosphate Synthase Deficiency 57 20 72
Hereditary Orotic Aciduria 20 58 70
Umps Deficiency 57 20 72
Orotate Phosphoribosyltransferase and Orotidylic Decarboxylase Deficiency 57 72
Uridine Monophosphate Synthetase Deficiency 20 58
Oprt and Odc Deficiency 57 72
Ump Synthase Deficiency 57 72
Orotic Aciduria I 57 72
Oroticaciduria 1 20 72
Orotate Phosphoribosyltransferase and Omp Decarboxylase Deficiency 20
Hereditary Orotic Aciduria Without Megaloblastic Anemia 20
Orotidylic Decarboxylase Deficiency 58
Hereditary Orotic Aciduria, Type 1 70
Orotic Aciduria Hereditary 54
Ump Synthtase Deficiency 20
Orotic Aciduria Type 1 20
Orotic Aciduria Ii 70
Orotic Aciduria 1 72
Aciduria, Orotic 39
Orac1 72
Umps 20

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®:

57 (Updated 05-Apr-2021)
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® 57 258900
KEGG 36 H00198
MeSH 44 D011686
MESH via Orphanet 45 C537136
ICD10 via Orphanet 33 E79.8
UMLS via Orphanet 71 C0220987 C0268130
Orphanet 58 ORPHA30
UMLS 70 C0220987 C0268130 C0268131

Summaries for Orotic Aciduria

GARD : 20 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 charcot-marie-tooth disease, x-linked recessive, 5. An important gene associated with Orotic Aciduria is UMPS (Uridine Monophosphate Synthetase), and among its related pathways/superpathways are Pyrimidine metabolism and Metabolism. The drugs Warfarin and Pharmaceutical Solutions have been mentioned in the context of this disorder. Affiliated tissues include liver, bone marrow and bone, 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® : 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) (Updated 05-Apr-2021)

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

UniProtKB/Swiss-Prot : 72 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 : 73 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 70)
# Related Disease Score Top Affiliating Genes
1 lysinuric protein intolerance 31.5 SLC7A7 OTC NAGS ASS1 ASL
2 charcot-marie-tooth disease, x-linked recessive, 5 31.5 UMPS ADSL
3 adenine phosphoribosyltransferase deficiency 31.5 UMPS ADSL
4 arts syndrome 31.4 UMPS ADSL
5 postaxial acrofacial dysostosis 31.4 UMPS DHODH
6 ornithine transcarbamylase deficiency, hyperammonemia due to 31.0 OTC NAGS DPYD CPS1 ASS1 ASL
7 carbonic anhydrase va deficiency, hyperammonemia due to 30.4 OTC NAGS CPS1 ASS1
8 citrullinemia, classic 29.3 SLC7A7 OTC NAGS CPS1 ASS1 ASL
9 urea cycle disorder 29.2 SLC7A7 OTC NAGS CPS1 ASS1 ASL
10 argininemia 29.1 SLC7A7 OTC OAT NAGS CPS1 ASS1
11 argininosuccinic aciduria 28.9 SLC7A7 OTC NAGS CPS1 ASS1 ASL
12 pyrimidine metabolic disorder 27.1 UPRT UMPS TMPPE SLC7A7 OTC NAGS
13 colorectal cancer 11.3
14 gastric cancer 11.2
15 gastroesophageal adenocarcinoma 10.9
16 megaloblastic anemia 10.4
17 autosomal recessive disease 10.2
18 postpartum psychosis 10.2 OTC ASS1
19 reye syndrome 10.2 OTC ASS1
20 agammaglobulinemia 10.2
21 cystinuria 10.1 SLC7A7 OTC OAT
22 neu-laxova syndrome 2 10.1 OAT NAGS
23 cerebral creatine deficiency syndrome 2 10.1 OAT ADSL
24 tyrosinemia, type ii 10.1 NAGS CPS1
25 hyperprolinemia, type i 10.1 OAT ADSL
26 dihydropyrimidinase deficiency 10.1 DPYD ADSL
27 isovaleric acidemia 10.1 NAGS CPS1
28 methylmalonic acidemia 10.0 OTC NAGS CPS1
29 tyrosinemia, type i 10.0 OTC NAGS ASL
30 burkitt lymphoma 10.0
31 glutamate formiminotransferase deficiency 10.0
32 xeroderma pigmentosum, variant type 10.0
33 lesch-nyhan syndrome 10.0
34 purine nucleoside phosphorylase deficiency 10.0
35 alacrima, achalasia, and mental retardation syndrome 10.0
36 deficiency anemia 10.0
37 xanthinuria 10.0
38 short bowel syndrome 10.0
39 neutropenia 10.0
40 pancytopenia 10.0
41 hepatic coma 10.0
42 hepatic encephalopathy 10.0
43 epilepsy 10.0
44 hyperuricemia 10.0
45 cerebral palsy 10.0
46 lymphopenia 10.0
47 herpes simplex 10.0
48 chickenpox 10.0
49 homocystinuria 10.0
50 hereditary xanthinuria 10.0

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 anisocytosis 31 HP:0011273
23 poikilocytosis 31 HP:0004447
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®:

57 (Updated 05-Apr-2021)
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
anisocytosis
poikilocytosis
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 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Orotic Aciduria:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.85 AGA ASL ASS1 CPS1 DPYD NAGS
2 integument MP:0010771 9.5 AGA ASL ASS1 NAGS OAT OTC
3 mortality/aging MP:0010768 9.36 ADSL AGA ASL ASS1 CPS1 DHODH

Drugs & Therapeutics for Orotic Aciduria

Drugs for Orotic Aciduria (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Warfarin Approved Phase 1 81-81-2 54678486 6691
2 Pharmaceutical Solutions Phase 1

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
2 Immunologic Effects of Supplemental Monosaccharide and Nucleoside Derivatives in Patients With Inherited Disorders of Glycosylation Terminated NCT02511041 Phase 1 N-Acetylglucosamine (GlcNAc);Uridine
3 UMP Lifestyle Medicine Program Active, not recruiting NCT01905761

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, Bone Marrow, Bone, Heart, Skin, Ovary, Endothelial

Publications for Orotic Aciduria

Articles related to Orotic Aciduria:

(show top 50) (show all 201)
# Title Authors PMID Year
1
Molecular cloning of the human UMP synthase gene and characterization of point mutations in two hereditary orotic aciduria families. 54 6 57 61
9042911 1997
2
First report of management and outcome of pregnancies associated with hereditary orotic aciduria. 57 61
1776631 1991
3
Analysis of UMP synthase gene and mRNA structure in hereditary orotic aciduria fibroblasts. 57 61
2837086 1988
4
Deficiency of UMP synthase in dairy cattle: a model for hereditary orotic aciduria. 61 57
2448544 1987
5
Absence of immune deficiency in hereditary orotic aciduria. 57 61
6717503 1984
6
Cellular immune deficiency in two siblings with hereditary orotic aciduria. 57 61
6828110 1983
7
Consequences of UMP synthase deficiency in cattle. 61 57
6572893 1983
8
Hereditary orotic aciduria: evidence for a structural gene mutation. 57 61
4528586 1974
9
Hereditary orotic aciduria: types I and II. 61 57
4753642 1973
10
Hereditary orotic aciduria with normal growth and development. 61 57
5353014 1969
11
Hereditary orotic aciduria: long-term therapy with uridine and a trial of uracil. 57 61
5347440 1969
12
Orotic aciduria. Differing enzyme patterns. 61 57
5808247 1969
13
Hereditary orotic aciduria. II. A urinary screening test. 61 57
5677483 1968
14
Hereditary orotic aciduria. I. A new case with family studies. 61 57
5677482 1968
15
HEREDITARY OROTIC ACIDURIA--PYRIMIDINE AUXOTROPHISM IN MAN. 57 61
14247288 1965
16
A GENETIC STUDY OF HEREDITARY OROTIC ACIDURIA. 61 57
14110033 1964
17
Inborn errors of pyrimidine metabolism: clinical update and therapy. 61 20
25030255 2014
18
DUMPS cattle carry a point mutation in the uridine monophosphate synthase gene. 57
8486364 1993
19
Inheritance of UMP synthase in dairy cattle. 57
6548235 1984
20
Pyrimidine nucleotide biosynthesis in animals: genes, enzymes, and regulation of UMP biosynthesis. 57
6105839 1980
21
Refractory megaloblastic anemia associated with excretion of orotic acid. 57
13651334 1959
22
Prodrugs - Recent approvals and a glimpse of the pipeline. 20
28782609 2017
23
Molecular mechanisms underlying large genomic deletions in ornithine transcarbamylase (OTC) gene. 54 61
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. 54 61
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. 54 61
10851269 2000
30
Mutation of ornithine transcarbamylase (H136R) in a girl with severe intermittent orotic aciduria but normal enzyme activity. 61 54
9266387 1997
31
Benign persistent orotic aciduria and the possibility of misdiagnosis of ornithine carbamoyltransferase deficiency. 54 61
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. 54 61
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. 61 54
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
Hereditary orotic aciduria (HOA): A novel uridine-5-monophosphate synthase (UMPS) mutation. 61
33489760 2021
39
Triacetyluridine treats epileptic encephalopathy from CAD mutations: a case report and review. 61
33249780 2021
40
Ornithine Transcarbamylase Deficiency Presenting as Acute Liver Failure in Girls: A Paediatric Case Series. 61
32265410 2020
41
Isolated Orotic Aciduria in an 11-Year-Old Boy. 61
32040582 2020
42
Ion chromatographic method for the determination of orotic acid in urine. 61
30267708 2018
43
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
44
Mild orotic aciduria in UMPS heterozygotes: a metabolic finding without clinical consequences. 61
28205048 2017
45
Orotate (orotic acid): An essential and versatile molecule. 61
27906623 2016
46
Hereditary Orotic Aciduria and the Excretion of Orotidine. 61
27574833 2016
47
In brief: Uridine triacetate (Xuriden) for hereditary orotic aciduria. 61
27027693 2016
48
Clinical outcomes and the mutation spectrum of the OTC gene in patients with ornithine transcarbamylase deficiency. 61
25994866 2015
49
Sensitive and Selective Determination of Orotic Acid in Biological Specimens Using a Novel Fluorogenic Reaction. 61
26026930 2015
50
Orotic Acid, More Than Just an Intermediate of Pyrimidine de novo Synthesis. 61
26059769 2015

Variations for Orotic Aciduria

ClinVar genetic disease variations for Orotic Aciduria:

6 (show top 50) (show all 207)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 UMPS NM_000373.4(UMPS):c.326T>G (p.Val109Gly) SNV Pathogenic 11907 rs121917892 GRCh37: 3:124456430-124456430
GRCh38: 3:124737583-124737583
2 UMPS NM_000373.4(UMPS):c.286A>G (p.Arg96Gly) SNV Pathogenic 11906 rs121917890 GRCh37: 3:124454069-124454069
GRCh38: 3:124735222-124735222
3 UMPS NM_000373.4(UMPS):c.1123G>A (p.Gly375Ser) SNV Likely pathogenic 523038 rs1344899647 GRCh37: 3:124459011-124459011
GRCh38: 3:124740164-124740164
4 UMPS NM_000373.4(UMPS):c.385G>T (p.Gly129Ter) SNV Uncertain significance 632395 rs747405574 GRCh37: 3:124456489-124456489
GRCh38: 3:124737642-124737642
5 UMPS NM_000373.4(UMPS):c.*2716T>C SNV Uncertain significance 342988 rs886057885 GRCh37: 3:124465647-124465647
GRCh38: 3:124746800-124746800
6 UMPS NM_000373.4(UMPS):c.441T>C (p.Thr147=) SNV Uncertain significance 342928 rs886057871 GRCh37: 3:124456545-124456545
GRCh38: 3:124737698-124737698
7 UMPS NM_000373.4(UMPS):c.*1517C>A SNV Uncertain significance 342962 rs74477033 GRCh37: 3:124464448-124464448
GRCh38: 3:124745601-124745601
8 UMPS NM_000373.4(UMPS):c.*4013_*4017ATATA[1] Microsatellite Uncertain significance 343016 rs541152211 GRCh37: 3:124466944-124466948
GRCh38: 3:124748097-124748101
9 UMPS NM_000373.4(UMPS):c.*1306_*1307del Deletion Uncertain significance 342956 rs777742646 GRCh37: 3:124464236-124464237
GRCh38: 3:124745389-124745390
10 UMPS NM_000373.4(UMPS):c.*3374C>G SNV Uncertain significance 343005 rs143276999 GRCh37: 3:124466305-124466305
GRCh38: 3:124747458-124747458
11 UMPS NM_000373.4(UMPS):c.*2672_*2673TG[25] Microsatellite Uncertain significance 342982 rs58981387 GRCh37: 3:124465602-124465603
GRCh38: 3:124746755-124746756
12 UMPS NM_000373.4(UMPS):c.*3447T>C SNV Uncertain significance 343008 rs764528076 GRCh37: 3:124466378-124466378
GRCh38: 3:124747531-124747531
13 UMPS NM_000373.4(UMPS):c.*5120_*5124del Deletion Uncertain significance 343045 rs556352266 GRCh37: 3:124468048-124468052
GRCh38: 3:124749201-124749205
14 UMPS NM_000373.4(UMPS):c.*3512C>G SNV Uncertain significance 900150 GRCh37: 3:124466443-124466443
GRCh38: 3:124747596-124747596
15 UMPS NM_000373.4(UMPS):c.*3594A>G SNV Uncertain significance 900151 GRCh37: 3:124466525-124466525
GRCh38: 3:124747678-124747678
16 UMPS NM_000373.4(UMPS):c.*4570C>T SNV Uncertain significance 900211 GRCh37: 3:124467501-124467501
GRCh38: 3:124748654-124748654
17 UMPS NM_000373.4(UMPS):c.*4623C>T SNV Uncertain significance 900212 GRCh37: 3:124467554-124467554
GRCh38: 3:124748707-124748707
18 UMPS NM_000373.4(UMPS):c.*4638G>A SNV Uncertain significance 900213 GRCh37: 3:124467569-124467569
GRCh38: 3:124748722-124748722
19 UMPS NM_000373.4(UMPS):c.*4672C>T SNV Uncertain significance 900214 GRCh37: 3:124467603-124467603
GRCh38: 3:124748756-124748756
20 UMPS NM_000373.4(UMPS):c.*4693G>A SNV Uncertain significance 900215 GRCh37: 3:124467624-124467624
GRCh38: 3:124748777-124748777
21 UMPS NM_000373.4(UMPS):c.1158G>A (p.Ala386=) SNV Uncertain significance 901112 GRCh37: 3:124459046-124459046
GRCh38: 3:124740199-124740199
22 UMPS NM_000373.4(UMPS):c.1158+10G>C SNV Uncertain significance 901113 GRCh37: 3:124459056-124459056
GRCh38: 3:124740209-124740209
23 UMPS NM_000373.4(UMPS):c.1290A>G (p.Gln430=) SNV Uncertain significance 790937 rs17843847 GRCh37: 3:124462778-124462778
GRCh38: 3:124743931-124743931
24 UMPS NM_000373.4(UMPS):c.1316T>C (p.Ile439Thr) SNV Uncertain significance 901114 GRCh37: 3:124462804-124462804
GRCh38: 3:124743957-124743957
25 UMPS NM_000373.4(UMPS):c.*1192C>T SNV Uncertain significance 901177 GRCh37: 3:124464123-124464123
GRCh38: 3:124745276-124745276
26 UMPS NM_000373.4(UMPS):c.*1249C>G SNV Uncertain significance 901178 GRCh37: 3:124464180-124464180
GRCh38: 3:124745333-124745333
27 UMPS NM_000373.4(UMPS):c.*2711G>A SNV Uncertain significance 901251 GRCh37: 3:124465642-124465642
GRCh38: 3:124746795-124746795
28 UMPS NM_000373.4(UMPS):c.*4862A>G SNV Uncertain significance 343038 rs886057898 GRCh37: 3:124467793-124467793
GRCh38: 3:124748946-124748946
29 UMPS NM_000373.4(UMPS):c.*3258A>C SNV Uncertain significance 343001 rs886057890 GRCh37: 3:124466189-124466189
GRCh38: 3:124747342-124747342
30 UMPS NM_000373.4(UMPS):c.*1418T>A SNV Uncertain significance 342961 rs886057874 GRCh37: 3:124464349-124464349
GRCh38: 3:124745502-124745502
31 UMPS NM_000373.4(UMPS):c.*868del Deletion Uncertain significance 342944 rs570945751 GRCh37: 3:124463799-124463799
GRCh38: 3:124744952-124744952
32 UMPS NM_000373.4(UMPS):c.*4231A>G SNV Uncertain significance 343024 rs886057895 GRCh37: 3:124467162-124467162
GRCh38: 3:124748315-124748315
33 UMPS NM_000373.4(UMPS):c.*2632C>A SNV Uncertain significance 342978 rs886057879 GRCh37: 3:124465563-124465563
GRCh38: 3:124746716-124746716
34 UMPS NM_000373.4(UMPS):c.*3367C>A SNV Uncertain significance 343004 rs768556841 GRCh37: 3:124466298-124466298
GRCh38: 3:124747451-124747451
35 UMPS NM_000373.4(UMPS):c.*3701C>T SNV Uncertain significance 343013 rs768769772 GRCh37: 3:124466632-124466632
GRCh38: 3:124747785-124747785
36 UMPS NM_000373.4(UMPS):c.*1902G>A SNV Uncertain significance 342967 rs147465900 GRCh37: 3:124464833-124464833
GRCh38: 3:124745986-124745986
37 UMPS NM_000373.4(UMPS):c.*2172A>G SNV Uncertain significance 342970 rs886057877 GRCh37: 3:124465103-124465103
GRCh38: 3:124746256-124746256
38 UMPS NM_000373.4(UMPS):c.*2715_*2718del Deletion Uncertain significance 342987 rs886057884 GRCh37: 3:124465643-124465646
GRCh38: 3:124746796-124746799
39 UMPS NM_000373.4(UMPS):c.*4496G>A SNV Uncertain significance 343033 rs886057896 GRCh37: 3:124467427-124467427
GRCh38: 3:124748580-124748580
40 UMPS NM_000373.4(UMPS):c.827G>A (p.Ser276Asn) SNV Uncertain significance 342929 rs140804035 GRCh37: 3:124456931-124456931
GRCh38: 3:124738084-124738084
41 UMPS NM_000373.4(UMPS):c.*1050C>T SNV Uncertain significance 342947 rs186445088 GRCh37: 3:124463981-124463981
GRCh38: 3:124745134-124745134
42 UMPS NM_000373.4(UMPS):c.1273+14C>T SNV Uncertain significance 342934 rs374339942 GRCh37: 3:124461127-124461127
GRCh38: 3:124742280-124742280
43 UMPS NM_000373.4(UMPS):c.*2671T>G SNV Uncertain significance 342979 rs886057880 GRCh37: 3:124465602-124465602
GRCh38: 3:124746755-124746755
44 UMPS NM_000373.4(UMPS):c.*2356T>C SNV Uncertain significance 342973 rs148772995 GRCh37: 3:124465287-124465287
GRCh38: 3:124746440-124746440
45 UMPS NM_000373.4(UMPS):c.*1342C>T SNV Uncertain significance 342959 rs183081203 GRCh37: 3:124464273-124464273
GRCh38: 3:124745426-124745426
46 UMPS NM_000373.4(UMPS):c.*4755G>A SNV Uncertain significance 343036 rs189776179 GRCh37: 3:124467686-124467686
GRCh38: 3:124748839-124748839
47 UMPS NM_000373.4(UMPS):c.*4178A>G SNV Uncertain significance 343022 rs758463509 GRCh37: 3:124467109-124467109
GRCh38: 3:124748262-124748262
48 UMPS NM_000373.4(UMPS):c.*2605G>A SNV Uncertain significance 342976 rs554810943 GRCh37: 3:124465536-124465536
GRCh38: 3:124746689-124746689
49 UMPS NM_000373.4(UMPS):c.*1153C>T SNV Uncertain significance 342951 rs768119744 GRCh37: 3:124464084-124464084
GRCh38: 3:124745237-124745237
50 UMPS NM_000373.4(UMPS):c.982+1G>C SNV Uncertain significance 529220 rs1553748674 GRCh37: 3:124457087-124457087
GRCh38: 3:124738240-124738240

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

72
# 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:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.8 UPRT UMPS OTC ODC1 OAT NAGS
2
Show member pathways
12.48 UPRT UMPS DPYD DHODH ADSL
3
Show member pathways
12.05 OTC NAGS CPS1 ASS1 ASL
4
Show member pathways
11.86 UMPS DHODH ADSL
5 11.51 OTC ODC1 OAT CPS1 ASS1
6 11.13 CPS1 ASS1 ASL ADSL
7
Show member pathways
10.79 OTC NAGS CPS1 ASS1 ASL
8
Show member pathways
10.55 ASS1 ASL
9
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 9.9 UPRT UMPS OTC ODC1 OAT DPYD
2 mitochondrion GO:0005739 9.43 OTC OAT NAGS DHODH CPS1 ASS1
3 mitochondrial matrix GO:0005759 8.92 OTC OAT NAGS CPS1

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

(show all 26)
# Name GO ID Score Top Affiliating Genes
1 response to drug GO:0042493 9.89 OTC DHODH CPS1 ASS1
2 female pregnancy GO:0007565 9.76 UPRT UMPS DHODH
3 liver development GO:0001889 9.75 OTC CPS1 ASS1
4 lactation GO:0007595 9.7 UPRT UMPS DHODH
5 response to starvation GO:0042594 9.69 DHODH CPS1 ADSL
6 response to amino acid GO:0043200 9.63 CPS1 ASS1
7 response to steroid hormone GO:0048545 9.62 CPS1 ASS1
8 cellular response to glucagon stimulus GO:0071377 9.62 CPS1 ASS1
9 nucleoside metabolic process GO:0009116 9.61 UPRT UMPS
10 response to growth hormone GO:0060416 9.61 CPS1 ASS1
11 response to amine GO:0014075 9.6 CPS1 ASS1
12 response to zinc ion GO:0010043 9.58 OTC CPS1 ASS1
13 pyrimidine nucleotide biosynthetic process GO:0006221 9.57 UMPS DHODH
14 cellular response to ammonium ion GO:0071242 9.56 CPS1 ASS1
15 cellular amino acid biosynthetic process GO:0008652 9.56 OTC OAT ASS1 ASL
16 citrulline biosynthetic process GO:0019240 9.55 OTC CPS1
17 UMP biosynthetic process GO:0006222 9.54 UPRT UMPS
18 midgut development GO:0007494 9.5 OTC CPS1 ASS1
19 cellular response to oleic acid GO:0071400 9.49 CPS1 ASS1
20 pyrimidine nucleoside biosynthetic process GO:0046134 9.48 UMPS DHODH
21 'de novo' UMP biosynthetic process GO:0044205 9.46 UMPS DHODH
22 arginine biosynthetic process via ornithine GO:0042450 9.43 OTC ASL
23 anion homeostasis GO:0055081 9.37 OTC CPS1
24 'de novo' pyrimidine nucleobase biosynthetic process GO:0006207 9.33 UMPS DHODH CPS1
25 arginine biosynthetic process GO:0006526 9.26 OTC NAGS ASS1 ASL
26 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 identical protein binding GO:0042802 9.85 UMPS OTC OAT ASS1 ASL ADSL
2 oxidoreductase activity, acting on the CH-CH group of donors GO:0016627 9.32 DPYD DHODH
3 carboxy-lyase activity GO:0016831 9.26 UMPS ODC1
4 lyase activity GO:0016829 9.26 UMPS ODC1 ASL ADSL
5 catalytic activity GO:0003824 9.23 UMPS ODC1 OAT DPYD DHODH CPS1
6 amino acid binding GO:0016597 9.16 OTC ASS1

Sources for Orotic Aciduria

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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