Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due to disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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 ⁵⁷ ²⁹ ⁶ ⁷³

P5n Deficiency ⁵⁷ ⁵⁹ ⁷⁵

Anemia, Hemolytic, Due to Umph1 Deficiency ⁵⁷ ¹³

Hemolytic Anemia Due to Umph1 Deficiency ⁵⁷ ⁷⁵

Hemolytic Anemia Due to P5n Deficiency ⁵⁷ ⁷⁵

Umph1 Deficiency ⁵⁷ ⁵⁹

Anemia, Hemolytic , Due to Uridine 5-Prime Monophosphate Hydrolase Deficiency ⁴⁰

Pyrimidine 5-Prime Nucleotidase Deficiency, Hemolytic Anemia Due to ⁵⁷

Hemolytic Anemia Due to Pyrimidine 5' Nucleotidase Deficiency ⁵⁹

Uridine 5'-Monophosphate Hydrolase Deficiency ⁵⁹

P5nd ⁷⁵

Characteristics:

Orphanet epidemiological data:

⁵⁹

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

OMIM:

⁵⁷

Inheritance:
autosomal recessive
probable heterogeneity

HPO:

³²

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: ³⁴

Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism

Haemolytic anaemias

Anaemia due to enzyme disorders

Anaemia due to disorders of nucleotide metabolism

Orphanet: ⁵⁹

Inborn errors of metabolism

Rare haematological diseases

External Ids:

OMIM ⁵⁷ 266120

Orphanet ⁵⁹ ORPHA35120

UMLS via Orphanet ⁷⁴ C1849507

ICD10 via Orphanet ³⁴ D55.3

MedGen ⁴² C1849507

SNOMED-CT via HPO ⁶⁹ 258211005 61261009 68600005

UMLS ⁷³ C1849507

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

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)

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 : ⁷⁵ 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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Symptoms & Phenotypes for Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic...

Symptoms via clinical synopsis from OMIM:

⁵⁷

Heme:
hemolytic anemia

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

Clinical features from OMIM:

266120

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

³²

#	Description	HPO Frequency	HPO Source Accession
1	hemolytic anemia ³²		HP:0001878
2	hemoglobinuria ³²		HP:0003641

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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

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

Genes related to Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due to (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	NT5C3A	5'-Nucleotidase, Cytosolic IIIA	Protein Coding	1669.95	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Causative variation ⁷⁵ Genetic Tests ²⁹ GeneCards inferred via : Variants (show sections)	11369620 6310729 12714505 (more) 12930399 15238149

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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:

⁷⁵

#	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
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

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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.

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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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