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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: Abnormalities, Multiple (D000015)
Parent Node: Brain Diseases (D001927)
Parent Node: Movement Disorders (D009069)
Parent Node: Purine-Pyrimidine Metabolism, Inborn Errors (D011686)
..Starting node ..Beta-Ureidopropionase Deficiency (C563210)
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:

1242

Name:

Beta-Ureidopropionase Deficiency

Definition:

Alternative IDs:

OMIM:613161

ParentIDs:

MESH:D000015|MESH:D001927|MESH:D009069|MESH:D011686

TreeNumbers:

C10.228.140/C563210 |C10.228.662/C563210 |C16.131.077/C563210 |C16.320.565.798/C563210 |C18.452.648.798/C563210

Synonyms:

Slim Mappings:

Congenital abnormality|Genetic disease (inborn)|Metabolic disease|Nervous system disease

Reference:

MedGen: C563210
MeSH: C563210
OMIM: 613161;

Genes: UPB1;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0003593	Infantile onset
3	HP:0002023	Anal atresia	HP:0040284
4	HP:0000048	Bifid scrotum	HP:0040284
5	HP:0002836	Bladder exstrophy
6	HP:0002188	Delayed CNS myelination
7	HP:0001332	Dystonia
8	HP:0001263	Global developmental delay
9	HP:0002521	Hypsarrhythmia	HP:0040284
10	HP:0001249	Intellectual disability	HP:0040284
11	HP:0000252	Microcephaly	HP:0040284
12	HP:0001319	Neonatal hypotonia
13	HP:0002167	Neurological speech impairment
14	HP:0002650	Scoliosis	HP:0040284
15	HP:0002133	Status epilepticus	HP:0040284

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	Disease_hgmd
NM_016327.2(UPB1):c.209G>C (p.Arg70Pro)	51733	UPB1	Pathogenic	121908066	RCV000004366;	N	MedGen:C1291512,OMIM:613161,ORPHA:65287,SNOMED CT:124511000	22	24896179	24896179	NM_016327.2:c.209G>C	NP_057411.1:p.Arg70Pro	NC_000022.10:g.24896179G>C	OMIM Allelic Variant:606673.0004	C1291512 613161 Deficiency of beta-ureidopropionase
NM_016327.2(UPB1):c.254C>A (p.Ala85Glu)	51733	UPB1	Pathogenic	34035085	RCV000004365; RCV000086541;	N	MedGen:C1291512,OMIM:613161,ORPHA:65287,SNOMED CT:124511000; MedGen:CN221809	22	24896224	24896224	NM_016327.2:c.254C>A	NP_057411.1:p.Ala85Glu	NC_000022.10:g.24896224C>A	OMIM Allelic Variant:606673.0003	C1291512 613161 Deficiency of beta-ureidopropionase; CN221809 not provided