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P5ND
MCID: URD002
MIFTS: 26

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

Categories: Blood diseases, Genetic diseases, Metabolic diseases, Rare diseases
Genes Variations Related diseases Publications Symptoms & Phenotypes
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Aliases & Classifications for Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic...

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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 57 29 6 71
P5n Deficiency 57 58 73
Anemia, Hemolytic, Due to Umph1 Deficiency 57 13
Hemolytic Anemia Due to Umph1 Deficiency 57 73
Hemolytic Anemia Due to P5n Deficiency 57 73
Umph1 Deficiency 57 58
Anemia, Hemolytic , Due to Uridine 5-Prime Monophosphate Hydrolase Deficiency 39
Pyrimidine 5-Prime Nucleotidase Deficiency, Hemolytic Anemia Due to 57
Hemolytic Anemia Due to Pyrimidine 5' Nucleotidase Deficiency 58
Uridine 5'-Monophosphate Hydrolase Deficiency 58
P5nd 73

Characteristics:

Orphanet epidemiological data:

58
hemolytic anemia due to pyrimidine 5' nucleotidase deficiency
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive
probable heterogeneity


HPO:

31
uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to:
Inheritance autosomal recessive inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Metabolic diseases Rare diseases
Anatomical: Blood diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Inborn errors of metabolism
Rare haematological diseases


External Ids:

OMIM® 57 266120
ICD10 via Orphanet 33 D55.3
UMLS via Orphanet 72 C1849507
Orphanet 58 ORPHA35120
MedGen 41 C1849507
SNOMED-CT via HPO 68 258211005 61261009 68600005
UMLS 71 C1849507
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Summaries for Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic...

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OMIM® : 57 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) (Updated 05-Mar-2021)

MalaCards based summary : Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due to, also known as p5n deficiency, is related to deficiency anemia and hemolytic anemia. 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 : 73 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.

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

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Diseases related to Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due to via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 deficiency anemia 10.4
2 hemolytic anemia 10.0

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

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

31
# Description HPO Frequency HPO Source Accession
1 hemolytic anemia 31 HP:0001878
2 hemoglobinuria 31 HP:0003641

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
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 (Updated 05-Mar-2021)

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

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

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

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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 29 NT5C3A
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Anatomical Context for Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic...

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

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

(show all 39)
# Title Authors PMID Year
1
Molecular characterization of Turkish patients with pyrimidine 5' nucleotidase-I deficiency. 6 57
12714505 2003
2
Genetic basis of hemolytic anemia caused by pyrimidine 5' nucleotidase deficiency. 57 6
11369620 2001
3
Erythrocyte pyrimidine 5'-nucleotidase deficiency. Report of 2 new cases, with a review of the literature. 57 6
6310729 1983
4
Pyrimidine 5'-nucleotidase deficiency: improved detection of carriers. 61 57
2557985 1989
5
Chromatographic analysis of human erythrocyte pyrimidine 5'-nucleotidase from five patients with pyrimidine 5'-nucleotidase deficiency. 57 61
3028466 1987
6
Molecular basis of Japanese variants of pyrimidine 5'-nucleotidase deficiency. 6
15238149 2004
7
Molecular characterization of six unrelated Italian patients affected by pyrimidine 5'-nucleotidase deficiency. 6
12930399 2003
8
Inhibition of hexose monophosphate shunt in young erythrocytes by pyrimidine nucleotides in hereditary pyrimidine 5' nucleotidase deficiency. 57
1868914 1991
9
Enzymatic diagnosis in non-spherocytic hemolytic anemia. 57
3352512 1988
10
Hemolytic anemia in hereditary pyrimidine 5'-nucleotidase deficiency. II. Effect of pyrimidine nucleotides and their derivatives on glycolytic and pentose phosphate shunt enzyme activity. 57
6091951 1984
11
Identification of thymidine nucleotidase and deoxyribonucleotidase activities among normal isozymes of 5'-nucleotidase in human erythrocytes. 57
6320196 1984
12
Pyrimidine nucleotidase deficiency with active dephosphorylation of dTMP: evidence for existence of thymidine nucleotidase in human erythrocytes. 57
6313098 1983
13
Erythrocyte nucleotide pattern in two children in a Norwegian family with pyrimidine 5'-nucleotidase deficiency. 57
6317231 1983
14
Three families with hereditary hemolytic anemia and pyrimidine 5'-nucleotidase deficiency: electrophoretic and kinetic studies. 57
6307548 1983
15
Isozymes of rodent 5'-nucleotidase: evidence for two independent structural loci Umph-1 and Umph-2. 57
6301357 1983
16
A case of hemolytic anemia due to erythrocyte pyrimidine 5'-nucleotidase deficiency. 57
6270945 1981
17
Hemolytic anemia due to pyrimidine-5'-nucleotidase deficiency: report of eight cases in six families. 57
6249430 1980
18
Additional data from two kindreds with genetically induced deficiencies of erythrocyte pyrimidine nucleotidase. 57
6251690 1980
19
Hereditary and acquired defects in the pyrimidine nucleotidase of human erythrocytes. 57
6276103 1980
20
Pyrimidine metabolism in hereditary erythrocyte pyrimidine 5' nucleotidase deficiency. 57
723629 1978
21
Haemolytic anaemia due to erythrocyte pyrimidine 5'-nucleotidase deficiency. Report of the first South African family. 57
601633 1977
22
Hereditary hemolytic anemia with erythrocyte pyrimidine 5'-nucleotidase deficiency in Spain. Clinical, biological and familial studies. 57
187542 1976
23
A family with red cell pyrimidine 5'-nucleotidase deficiency. 57
1276472 1976
24
Hereditary hemolytic anemia with human erythrocyte pyrimidine 5'-nucleotidase deficiency. 57
4372252 1974
25
Proteomics reveals reduced expression of transketolase in pyrimidine 5'-nucleotidase deficient patients. 61
27381654 2016
26
Chronic non-spherocytic haemolytic anaemia due to congenital pyrimidine 5' nucleotidase deficiency: 25 years later. 61
10916681 2000
27
Erythrocyte nucleotides in lead workers. 61
1544691 1992
28
[Hemolytic anemia caused by pyrimidine 5'-nucleotidase (P5N) deficiency 15 years later. Apropos of 2 new cases of hereditary deficit and another one of lead poisoning]. 61
2558262 1989
29
Pyrimidine nucleotides impair phosphoribosylpyrophosphate (PRPP) synthetase subunit aggregation by sequestering magnesium. A mechanism for the decreased PRPP synthetase activity in hereditary erythrocyte pyrimidine 5'-nucleotidase deficiency. 61
2535789 1989
30
Deficiency of pyrimidine 5'-nucleotidase in human leukocytes. 61
2559246 1989
31
Erythrocyte pyrimidine 5'-nucleotidase and deoxynucleotidase isozymes: metallosensitivity and kinetics. 61
2841083 1988
32
Erythrocyte-oxidized glutathione transport in pyrimidine 5'-nucleotidase deficiency. 61
2888306 1987
33
Red cell metabolism in hereditary pyrimidine 5'-nucleotidase deficiency: effect of magnesium. 61
3015191 1986
34
Pyrimidine 5'nucleotidase and several other red cell enzyme activities in beta-thalassaemia trait. 61
6320862 1984
35
Electrophoretic and kinetic studies of a new mutant red cell pyrimidine 5'-nucleotidase. 61
6313341 1983
36
Studies on pyruvate kinase deficiency, pyrimidine 5-'nucleotidase deficiency and adenosine deaminase overproduction. 61
6274114 1981
37
A case of lead intoxication: clinical and biochemical studies. 61
6267939 1981
38
Pyrimidine 5'-nucleotidase deficiency: studies of five cases in two Japanese families. 61
6254920 1980
39
A role of red cell pyrimidine 5'-nucleotidase in experimental lead poisoning. 61
231420 1979
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Variations for Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic...

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

6 (show all 17)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NT5C3A NM_016489.13(NT5C3A):c.592-1G>T SNV Pathogenic 4481 rs397518435 7:33055483-33055483 7:33015871-33015871
2 NT5C3A NM_016489.13(NT5C3A):c.592-1G>C SNV Pathogenic 4485 rs397518435 7:33055483-33055483 7:33015871-33015871
3 NT5C3A NM_016489.13(NT5C3A):c.577del (p.Asp193fs) Deletion Pathogenic 4487 rs397518438 7:33057065-33057065 7:33017453-33017453
4 NT5C3A NM_016489.13(NT5C3A):c.293A>T (p.Asp98Val) SNV Pathogenic 4479 rs104894025 7:33060929-33060929 7:33021317-33021317
5 NT5C3A NM_016489.13(NT5C3A):c.529C>T (p.Gln177Ter) SNV Pathogenic 4480 rs104894026 7:33057113-33057113 7:33017501-33017501
6 NT5C3A NM_016489.13(NT5C3A):c.742_743dup (p.Val249fs) Duplication Pathogenic 4482 rs397518436 7:33055330-33055331 7:33015718-33015719
7 NT5C3A NM_016489.13(NT5C3A):c.543T>G (p.Tyr181Ter) SNV Pathogenic 4483 rs104894027 7:33057099-33057099 7:33017487-33017487
8 NT5C3A NM_016489.13(NT5C3A):c.569A>G (p.Asn190Ser) SNV Pathogenic 4486 rs104894028 7:33057073-33057073 7:33017461-33017461
9 NT5C3A NM_016489.13(NT5C3A):c.721G>C (p.Gly241Arg) SNV Pathogenic 4488 rs104894029 7:33055353-33055353 7:33015741-33015741
10 NT5C3A NM_016489.12(NT5C3A):c.384dupA (p.Ala129Serfs) Duplication Pathogenic 4484 rs397518437 7:33059290-33059291 7:33019678-33019679
11 NT5C3A NM_001002010.5(NT5C3A):c.686A>T (p.Asp229Val) SNV Uncertain significance 811287 rs1583891936 7:33057058-33057058 7:33017446-33017446
12 NT5C3A NM_001002010.5(NT5C3A):c.406A>G (p.Thr136Ala) SNV Uncertain significance 811355 rs141651499 7:33060918-33060918 7:33021306-33021306
13 NT5C3A NM_016489.13(NT5C3A):c.276T>C (p.Tyr92=) SNV Benign 440011 rs3750117 7:33060946-33060946 7:33021334-33021334
14 NT5C3A NM_001002010.5(NT5C3A):c.440+9A>G SNV Benign 811542 rs72555745 7:33060875-33060875 7:33021263-33021263
15 NT5C3A NM_001002010.5(NT5C3A):c.861G>A (p.Glu287=) SNV Benign 780675 rs72555746 7:33055315-33055315 7:33015703-33015703
16 NT5C3A NM_001002010.5(NT5C3A):c.139-9060del Deletion Benign 994231 7:33075587-33075587 7:33035975-33035975
17 NT5C3A NM_001002010.5(NT5C3A):c.139-9046T>C SNV Benign 995643 7:33075573-33075573 7:33035961-33035961

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

73
# 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

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

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

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

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

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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