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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

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Disease Browser
Parent Node: Anemia, Hemolytic, Congenital (D000745)
..Starting node ..Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia due to (C564859)
Child Nodes:
Sister Nodes:
..Anemia, Dyserythropoietic, Congenital (D000742) 5
..Anemia, Hemolytic, Congenital Nonspherocytic (D000746) 5
..Anemia, hereditary spherocytic hemolytic (C536356)
..Anemia, Sickle Cell (D000755) 3
..Dehydrated Hereditary Stomatocytosis, Pseudohyperkalemia, and Perinatal Edema (C566369)
..Elliptocytosis, Hereditary (D004612) 11
..Glucosephosphate Dehydrogenase Deficiency (D005955) 3
..Heinz Body Anemias (C563030)
..Hemoglobin C Disease (D006445) 1
..Hemolytic Anemia, Congenital, with Emphysema and Cutis Laxa (C562629)
..Hemolytic Anemia, Lethal Congenital Nonspherocytic, with Genital and Other Abnormalities (C563935)
..HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY (OMIM:613470)
..Red cell phospholipid defect with hemolysis (C535298)
..Rh-Null Disease, Amorph Type (C566210)
..Spherocytosis, Hereditary (D013103) 5
..Stomatocytosis I (C566111)
..Stomatocytosis II (C566110)
..Thalassemia (D013789) 16
..Transient erythroblastopenia of childhood (C536980)
..Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia due to (C564859)
..Xerocytosis, hereditary (C536764)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

11410

Name:

Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia due to

Definition:

Alternative IDs:

OMIM:266120

ParentIDs:

MESH:D000745

TreeNumbers:

C15.378.071.141.150/C564859 |C16.320.070/C564859

Synonyms:

Hemolytic Anemia due to P5N Deficiency |Hemolytic Anemia due to UMPH1 Deficiency |Hemolytic Anemia due to Uridine 5-Prime Monophosphate Hydrolase Deficiency |P5N DEFICIENCY |Pyrimidine 5-Prime Nucleotidase Deficiency, Hemolytic Anemia due to |UMPH1 Deficiency

Slim Mappings:

Blood disease|Genetic disease (inborn)

Reference:

MedGen: C564859
MeSH: C564859
OMIM: 266120;

Genes: NT5C3A;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0003641	Hemoglobinuria
3	HP:0001878	Hemolytic anemia

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_016489.12(NT5C3A):c.743_744insGG (p.Val249Glufs)	51251	NT5C3A	Pathogenic	397518436	RCV000004739;	N	MedGen:C1849507,OMIM:266120,ORPHA:35120	7	33055330	33055331	NM_016489.12:c.743_744insGG	NP_057573.2:p.Val249Glufs	NC_000007.13:g.33055330_33055331insCC	OMIM Allelic Variant:606224.0004	C1849507 266120 Uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to
NM_001002010.2(NT5C3A):c.838G>C (p.Gly280Arg)	51251	NT5C3A	Pathogenic	104894029	RCV000004745;	N	MedGen:C1849507,OMIM:266120,ORPHA:35120	7	33055353	33055353	NM_001002010.2:c.838G>C	NP_001002010.1:p.Gly280Arg	NC_000007.13:g.33055353C>G	OMIM Allelic Variant:606224.0010	C1849507 266120 Uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to
NM_016489.12(NT5C3A):c.592-1G>T	51251	NT5C3A	Pathogenic	397518435	RCV000004738;	N	MedGen:C1849507,OMIM:266120,ORPHA:35120	7	33055483	33055483	NM_016489.12:c.592-1G>T		NC_000007.13:g.33055483C>A,NC_000007.13:g.33055483C>G	OMIM Allelic Variant:606224.0003	C1849507 266120 Uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to
NM_016489.12(NT5C3A):c.592-1G>C	51251	NT5C3A	Pathogenic	397518435	RCV000004742;	N	MedGen:C1849507,OMIM:266120,ORPHA:35120	7	33055483	33055483	NM_016489.12:c.592-1G>C		NC_000007.13:g.33055483C>A,NC_000007.13:g.33055483C>G	OMIM Allelic Variant:606224.0007	C1849507 266120 Uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to
NM_016489.12(NT5C3A):c.576delG (p.Asp193Ilefs)	51251	NT5C3A	Pathogenic	397518438	RCV000004744;	N	MedGen:C1849507,OMIM:266120,ORPHA:35120	7	33057066	33057066	NM_016489.12:c.576delG	NP_057573.2:p.Asp193Ilefs	NC_000007.13:g.33057066delC	OMIM Allelic Variant:606224.0009	C1849507 266120 Uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to
NM_001002010.2(NT5C3A):c.686A>G (p.Asn229Ser)	51251	NT5C3A	Pathogenic	104894028	RCV000004743;	N	MedGen:C1849507,OMIM:266120,ORPHA:35120	7	33057073	33057073	NM_001002010.2:c.686A>G	NP_001002010.1:p.Asn229Ser	NC_000007.13:g.33057073T>C	OMIM Allelic Variant:606224.0008	C1849507 266120 Uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to
NM_001002010.2(NT5C3A):c.660T>G (p.Tyr220Ter)	51251	NT5C3A	Pathogenic	104894027	RCV000004740;	N	MedGen:C1849507,OMIM:266120,ORPHA:35120	7	33057099	33057099	NM_001002010.2:c.660T>G	NP_001002010.1:p.Tyr220Ter	NC_000007.13:g.33057099A>C	OMIM Allelic Variant:606224.0005	C1849507 266120 Uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to
NM_001002010.2(NT5C3A):c.646C>T (p.Gln216Ter)	51251	NT5C3A	Pathogenic	104894026	RCV000004737;	N	MedGen:C1849507,OMIM:266120,ORPHA:35120	7	33057113	33057113	NM_001002010.2:c.646C>T	NP_001002010.1:p.Gln216Ter	NC_000007.13:g.33057113G>A	OMIM Allelic Variant:606224.0002	C1849507 266120 Uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to
NM_016489.12(NT5C3A):c.384dupA (p.Ala129Serfs)	51251	NT5C3A	Pathogenic	397518437	RCV000004741;	N	MedGen:C1849507,OMIM:266120,ORPHA:35120	7	33059291	33059291	NM_016489.12:c.384dupA	NP_057573.2:p.Ala129Serfs	NC_000007.13:g.33059291dupT	OMIM Allelic Variant:606224.0006	C1849507 266120 Uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to
NM_001002010.2(NT5C3A):c.410A>T (p.Asp137Val)	51251	NT5C3A	Pathogenic	104894025	RCV000004736;	N	MedGen:C1849507,OMIM:266120,ORPHA:35120	7	33060929	33060929	NM_001002010.2:c.410A>T	NP_001002010.1:p.Asp137Val	NC_000007.13:g.33060929T>A	OMIM Allelic Variant:606224.0001	C1849507 266120 Uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to