Disease browser and phenotype portal

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

Hello! Guest! Please Login or Register! Clinician Mode

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

Hearing Loss Disease Portal

Switch to table view
Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Purine-Pyrimidine Metabolism, Inborn Errors (D011686)
..Starting node ..Dihydropyrimidine Dehydrogenase Deficiency (D054067)
Child Nodes:
........5 alpha Fluorouracil toxicity (C531667)
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:

3377

Name:

Dihydropyrimidine Dehydrogenase Deficiency

Definition:

An autosomal recessive disorder affecting DIHYDROPYRIMIDINE DEHYDROGENASE and causing familial pyrimidinemia. It is characterized by thymine-uraciluria in homozygous deficient patients. Even a partial deficiency in the enzyme leaves individuals at risk for developing severe 5-FLUOROURACIL-associated toxicity.

Alternative IDs:

OMIM:274270

ParentIDs:

MESH:D011686

TreeNumbers:

C16.320.565.798.183 |C18.452.648.798.183

Synonyms:

Slim Mappings:

Genetic disease (inborn)|Metabolic disease

Reference:

MedGen: D054067
MeSH: D054067
OMIM: 274270;

Genes: DPYD;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0001274	Agenesis of corpus callosum	HP:0040283
3	HP:0000717	Autism
4	HP:0002059	Cerebral atrophy
5	HP:0000589	Coloboma
6	HP:0000750	Delayed speech and language development
7	HP:0001508	Failure to thrive
8	HP:0001290	Generalized hypotonia
9	HP:0001510	Growth delay
10	HP:0000752	Hyperactivity
11	HP:0001276	Hypertonia
12	HP:0001252	Hypotonia
13	HP:0001249	Intellectual disability
14	HP:0001254	Lethargy
15	HP:0000252	Microcephaly
16	HP:0000568	Microphthalmia
17	HP:0001270	Motor delay
18	HP:0000639	Nystagmus
19	HP:0000648	Optic atrophy
20	HP:0003812	Phenotypic variability
21	HP:0003654	Reduced dihydropyrimidine dehydrogenase level
22	HP:0001250	Seizure
23	HP:0002445	Tetraplegia

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_000110.3(DPYD):c.2657G>A (p.Arg886His)	-1	-	Pathogenic	1801267	RCV000000466;	N	MedGen:C2720286,OMIM:274270	1	97564154	97564154	NM_000110.3:c.2657G>A	NP_000101.2:p.Arg886His	NC_000001.10:g.97564154C>T	OMIM Allelic Variant:612779.0006	C2720286 274270 Dihydropyrimidine dehydrogenase deficiency
NM_000110.3(DPYD):c.2043_2058del16 (p.Leu682Ilefs)	1806	DPYD	Likely pathogenic	773499329	RCV000169225;	N	MedGen:C2720286,OMIM:274270	1	97839117	97839132	NM_000110.3:c.2043_2058del16	NP_000101.2:p.Leu682Ilefs	NC_000001.10:g.97839117_97839132del16	-	C2720286 274270 Dihydropyrimidine dehydrogenase deficiency
NM_000110.3(DPYD):c.1905+1G>A	1806	DPYD	drug response	3918290	RCV000000460; RCV000201291; RCV000086468; RCV000030868; RCV000211317; RCV000211404; RCV000211354; RCV000211222;	Y	MedGen:C2720286,OMIM:274270; MedGen:C2931876,OMIM:142623; MedGen:CN077983; MedGen:CN221809; MedGen:CN236468; MedGen:CN236492; MedGen:CN236593; MedGen:CN236622	1	97915614	97915614	NM_000110.3:c.1905+1G>A		NC_000001.10:g.97915614C>T	OMIM Allelic Variant:612779.0001,PharmGKB Clinical Annotation:827843617,PharmGKB:827843617	CN236492 capecitabine response - Toxicity/ADR; C2720286 274270 Dihydropyrimidine dehydrogenase deficiency; CN077983 Fluorouracil response; CN236593 fluorouracil response - Toxicity/ADR; C2931876 142623 Hirschsprung disease 1; CN221809 not provided; C
NM_000110.3(DPYD):c.85T>C (p.Cys29Arg)	1806	DPYD	Pathogenic	1801265	RCV000000464;	N	MedGen:C2720286,OMIM:274270	1	98348885	98348885	NM_000110.3:c.85T>C	NP_000101.2:p.Cys29Arg	NC_000001.10:g.98348885Gx3d,NC_000001.10:g.98348885G>A	OMIM Allelic Variant:612779.0004	C2720286 274270 Dihydropyrimidine dehydrogenase deficiency
NM_000110.3(DPYD):c.61C>T (p.Arg21Ter)	1806	DPYD	Likely pathogenic	72549310	RCV000169198;	N	MedGen:C2720286,OMIM:274270	1	98348909	98348909	NM_000110.3:c.61C>T	NP_000101.2:p.Arg21Ter	NC_000001.10:g.98348909G>A	-	C2720286 274270 Dihydropyrimidine dehydrogenase deficiency