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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Disease Browser
Parent Node: Purine-Pyrimidine Metabolism, Inborn Errors (D011686)
..Starting node ..Oroticaciduria 1 (C537136)
Child Nodes:
Sister Nodes:
..Adenosine monophosphate deaminase deficiency (C538234)
..Adenylosuccinate lyase deficiency (C538235)
..Beta-Ureidopropionase Deficiency (C563210)
..Dihydropyrimidine Dehydrogenase Deficiency (D054067) 1
..Gout (D006073) 6
..Hyperuricemia, Infantile, with Abnormal Behavior and Normal Hypoxanthine Guanine Phosphoribosyltransferase (C565489)
..Lesch-Nyhan Syndrome (D007926) 1
..Methylmalonate Semialdehyde Dehydrogenase Deficiency (C566402)
..Orotic Aciduria II (C562589)
..Oroticaciduria 1 (C537136)
..Phosphoribosylpyrophosphate synthetase deficiency (C537897)
..Phosphoribosylpyrophosphate Synthetase Superactivity (C567064)
..Pseudouridinuria and Mental Defect (C564864)
..Purine Nucleoside Phosphorylase Deficiency (C562587)
..Thiopurine S methyltranferase deficiency (C536512)
..Xanthinuria, Type II (C566358)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

8351

Name:

Oroticaciduria 1

Definition:

Alternative IDs:

OMIM:258900

ParentIDs:

MESH:D011686

TreeNumbers:

C16.320.565.798/C537136 |C18.452.648.798/C537136

Synonyms:

Slim Mappings:

Genetic disease (inborn)|Metabolic disease

Reference:

MedGen: C537136
MeSH: C537136
OMIM: 258900;

Genes: UMPS;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0011273	Anisocytosis
3	HP:0001631	Atrial septal defect	HP:0040283
4	HP:0001508	Failure to thrive	HP:0040283
5	HP:0004826	Folate-unresponsive megaloblastic anemia
6	HP:0001263	Global developmental delay	HP:0040283
7	HP:0000790	Hematuria
8	HP:0005435	Impaired T cell function	HP:0040283
9	HP:0003526	Orotic acid crystalluria
10	HP:0003218	Oroticaciduria
11	HP:0004447	Poikilocytosis
12	HP:0003339	Pyrimidine-responsive megaloblastic anemia
13	HP:0003267	Reduced orotidine 5-prime phosphate decarboxylase level
14	HP:0001629	Ventricular septal defect	HP:0040283

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_000373.3(UMPS):c.286A>G (p.Arg96Gly)	7372	UMPS	Pathogenic	121917890	RCV000012681;	N	MedGen:C0268128,OMIM:258900,SNOMED CT:47641009,SNOMED CT:90093009	3	124454069	124454069	NM_000373.3:c.286A>G	NP_000364.1:p.Arg96Gly	NC_000003.11:g.124454069A>G	OMIM Allelic Variant:613891.0001	C0268128 258900 Orotic aciduria
NM_000373.3(UMPS):c.326T>G (p.Val109Gly)	7372	UMPS	Pathogenic	121917892	RCV000012682;	N	MedGen:C0268128,OMIM:258900,SNOMED CT:47641009,SNOMED CT:90093009	3	124456430	124456430	NM_000373.3:c.326T>G	NP_000364.1:p.Val109Gly	NC_000003.11:g.124456430T>G	OMIM Allelic Variant:613891.0002	C0268128 258900 Orotic aciduria
NM_000373.3(UMPS):c.1285G>C (p.Gly429Arg)	7372	UMPS	Pathogenic	121917891	RCV000012681;	N	MedGen:C0268128,OMIM:258900,SNOMED CT:47641009,SNOMED CT:90093009	3	124462773	124462773	NM_000373.3:c.1285G>C	NP_000364.1:p.Gly429Arg	NC_000003.11:g.124454069A>G	OMIM Allelic Variant:613891.0001	C0268128 258900 Orotic aciduria