P5ND
MCID: URD002
MIFTS: 21

Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due to (P5ND)

Categories: Blood diseases, Genetic diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic...

MalaCards integrated aliases for Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due to:

Name: Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due to 58 30 6 74
P5n Deficiency 58 60 76
Anemia, Hemolytic, Due to Umph1 Deficiency 58 13
Hemolytic Anemia Due to Umph1 Deficiency 58 76
Hemolytic Anemia Due to P5n Deficiency 58 76
Umph1 Deficiency 58 60
Anemia, Hemolytic , Due to Uridine 5-Prime Monophosphate Hydrolase Deficiency 41
Pyrimidine 5-Prime Nucleotidase Deficiency, Hemolytic Anemia Due to 58
Hemolytic Anemia Due to Pyrimidine 5' Nucleotidase Deficiency 60
Uridine 5'-Monophosphate Hydrolase Deficiency 60
P5nd 76

Characteristics:

Orphanet epidemiological data:

60
hemolytic anemia due to pyrimidine 5' nucleotidase deficiency
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal recessive
probable heterogeneity


HPO:

33
uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 58 266120
ICD10 via Orphanet 35 D55.3
UMLS via Orphanet 75 C1849507
Orphanet 60 ORPHA35120
MedGen 43 C1849507
SNOMED-CT via HPO 70 258211005 61261009 68600005
UMLS 74 C1849507

Summaries for Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic...

OMIM : 58 Deficiency of pyrimidine 5-prime nucleotidase, also called uridine 5-prime monophosphate hydrolase, causes an autosomal recessive hemolytic anemia characterized by marked basophilic stippling and the accumulation of high concentrations of pyrimidine nucleotides within the erythrocyte. The enzyme is implicated in the anemia of lead poisoning and is possibly associated with learning difficulties. Hirono et al. (1988) suggested that this deficiency is the third most common RBC enzymopathy--after G6PD (300908) and pyruvate kinase (see 266200) deficiencies--causing hemolysis (summary by Marinaki et al., 2001). (266120)

MalaCards based summary : Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due to, is also known as p5n deficiency. An important gene associated with Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due to is NT5C3A (5'-Nucleotidase, Cytosolic IIIA). Related phenotypes are hemolytic anemia and hemoglobinuria

UniProtKB/Swiss-Prot : 76 P5N deficiency: Autosomal recessive condition causing hemolytic anemia characterized by marked basophilic stippling and the accumulation of high concentrations of pyrimidine nucleotides within the erythrocyte. It is implicated in the anemia of lead poisoning and is possibly associated with learning difficulties.

Related Diseases for Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic...

Symptoms & Phenotypes for Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic...

Human phenotypes related to Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due to:

33
# Description HPO Frequency HPO Source Accession
1 hemolytic anemia 33 HP:0001878
2 hemoglobinuria 33 HP:0003641

Symptoms via clinical synopsis from OMIM:

58
Heme:
hemolytic anemia

Lab:
hemoglobinuria
intravascular hemolysis
pyrimidine 5-prime-nucleotidase (p5n-i) deficiency
normal p5n-ii
ribosephosphate pyrophosphokinase reduced

Clinical features from OMIM:

266120

Drugs & Therapeutics for Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic...

Search Clinical Trials , NIH Clinical Center for Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due to

Genetic Tests for Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic...

Genetic tests related to Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due to:

# Genetic test Affiliating Genes
1 Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due to 30 NT5C3A

Anatomical Context for Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic...

Publications for Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic...

Articles related to Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due to:

# Title Authors Year
1
Molecular basis of Japanese variants of pyrimidine 5'-nucleotidase deficiency. ( 15238149 )
2004
2
Molecular characterization of six unrelated Italian patients affected by pyrimidine 5'-nucleotidase deficiency. ( 12930399 )
2003
3
Molecular characterization of Turkish patients with pyrimidine 5' nucleotidase-I deficiency. ( 12714505 )
2003
4
Genetic basis of hemolytic anemia caused by pyrimidine 5' nucleotidase deficiency. ( 11369620 )
2001
5
Erythrocyte pyrimidine 5'-nucleotidase deficiency. Report of 2 new cases, with a review of the literature. ( 6310729 )
1983
6
Hemolytic anemia due to pyrimidine-5'-nucleotidase deficiency: report of eight cases in six families. ( 6249430 )
1980

Variations for Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic...

UniProtKB/Swiss-Prot genetic disease variations for Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due to:

76
# Symbol AA change Variation ID SNP ID
1 NT5C3A p.Asp137Val VAR_023511 rs104894025
2 NT5C3A p.Leu181Pro VAR_023512
3 NT5C3A p.Asn229Ser VAR_023513 rs104894028
4 NT5C3A p.Gly280Arg VAR_023514 rs104894029
5 NT5C3A p.Arg95Gly VAR_073160 rs766577643
6 NT5C3A p.Cys113Arg VAR_073161
7 NT5C3A p.Gly207Arg VAR_073162
8 NT5C3A p.Ile297Thr VAR_073163

ClinVar genetic disease variations for Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due to:

6 (show all 20)
# Gene Variation Type Significance SNP ID Assembly Location
1 NT5C3A NM_001002010.2(NT5C3A): c.410A> T (p.Asp137Val) single nucleotide variant Pathogenic rs104894025 GRCh37 Chromosome 7, 33060929: 33060929
2 NT5C3A NM_001002010.2(NT5C3A): c.410A> T (p.Asp137Val) single nucleotide variant Pathogenic rs104894025 GRCh38 Chromosome 7, 33021317: 33021317
3 NT5C3A NM_001002010.2(NT5C3A): c.646C> T (p.Gln216Ter) single nucleotide variant Pathogenic rs104894026 GRCh37 Chromosome 7, 33057113: 33057113
4 NT5C3A NM_001002010.2(NT5C3A): c.646C> T (p.Gln216Ter) single nucleotide variant Pathogenic rs104894026 GRCh38 Chromosome 7, 33017501: 33017501
5 NT5C3A NM_016489.12(NT5C3A): c.592-1G> T single nucleotide variant Pathogenic rs397518435 GRCh37 Chromosome 7, 33055483: 33055483
6 NT5C3A NM_016489.12(NT5C3A): c.592-1G> T single nucleotide variant Pathogenic rs397518435 GRCh38 Chromosome 7, 33015871: 33015871
7 NT5C3A NM_016489.12(NT5C3A): c.743_744insGG (p.Val249Glufs) insertion Pathogenic rs397518436 GRCh37 Chromosome 7, 33055330: 33055331
8 NT5C3A NM_016489.12(NT5C3A): c.743_744insGG (p.Val249Glufs) insertion Pathogenic rs397518436 GRCh38 Chromosome 7, 33015718: 33015719
9 NT5C3A NM_001002010.2(NT5C3A): c.660T> G (p.Tyr220Ter) single nucleotide variant Pathogenic rs104894027 GRCh37 Chromosome 7, 33057099: 33057099
10 NT5C3A NM_001002010.2(NT5C3A): c.660T> G (p.Tyr220Ter) single nucleotide variant Pathogenic rs104894027 GRCh38 Chromosome 7, 33017487: 33017487
11 NT5C3A NM_016489.12(NT5C3A): c.384dupA (p.Ala129Serfs) insertion Pathogenic rs397518437 GRCh37 Chromosome 7, 33059291: 33059291
12 NT5C3A NM_016489.12(NT5C3A): c.384dupA (p.Ala129Serfs) insertion Pathogenic rs397518437 GRCh38 Chromosome 7, 33019679: 33019679
13 NT5C3A NM_016489.12(NT5C3A): c.592-1G> C single nucleotide variant Pathogenic rs397518435 GRCh37 Chromosome 7, 33055483: 33055483
14 NT5C3A NM_016489.12(NT5C3A): c.592-1G> C single nucleotide variant Pathogenic rs397518435 GRCh38 Chromosome 7, 33015871: 33015871
15 NT5C3A NM_001002010.2(NT5C3A): c.686A> G (p.Asn229Ser) single nucleotide variant Pathogenic rs104894028 GRCh37 Chromosome 7, 33057073: 33057073
16 NT5C3A NM_001002010.2(NT5C3A): c.686A> G (p.Asn229Ser) single nucleotide variant Pathogenic rs104894028 GRCh38 Chromosome 7, 33017461: 33017461
17 NT5C3A NM_016489.12(NT5C3A): c.576delG (p.Asp193Ilefs) deletion Pathogenic rs397518438 GRCh37 Chromosome 7, 33057066: 33057066
18 NT5C3A NM_016489.12(NT5C3A): c.576delG (p.Asp193Ilefs) deletion Pathogenic rs397518438 GRCh38 Chromosome 7, 33017454: 33017454
19 NT5C3A NM_001002010.2(NT5C3A): c.838G> C (p.Gly280Arg) single nucleotide variant Pathogenic rs104894029 GRCh37 Chromosome 7, 33055353: 33055353
20 NT5C3A NM_001002010.2(NT5C3A): c.838G> C (p.Gly280Arg) single nucleotide variant Pathogenic rs104894029 GRCh38 Chromosome 7, 33015741: 33015741

Expression for Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic...

Search GEO for disease gene expression data for Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due to.

Pathways for Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic...

GO Terms for Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic...

Sources for Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic...

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