Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency
General Information (adopted from Orphanet):
| Synonyms, Signs: |
PYRIMIDINE 5-PRIME NUCLEOTIDASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO HEMOLYTIC ANEMIA DUE TO P5N DEFICIENCY HEMOLYTIC ANEMIA DUE TO UMPH1 DEFICIENCY Uridine 5' monophosphate hydrolase deficiency umph1 deficiency p5n deficiency |
| Number of Symptoms | 7 |
| OrphanetNr: | 35120 |
| OMIM Id: |
266120
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| ICD-10: |
D55.3 |
| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal recessive [Orphanet] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Disorder of pyrimidine metabolism
-Rare genetic disease Hemolytic anemia due to an erythrocyte nucleotide metabolism disorder -Rare genetic disease -Rare hematologic disease |
Symptom Information:
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(HPO:0003641) | Hemoglobinuria | 2 / 7739 | ||||
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(HPO:0001878) | Hemolytic anemia | 83 / 7739 | ||||
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(OMIM) | Pyrimidine 5-prime-nucleotidase (P5N-I) deficiency | 1 / 7739 | ||||
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(OMIM) | Normal P5N-II | 1 / 7739 | ||||
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(OMIM) | Ribosephosphate pyrophosphokinase reduced | 1 / 7739 | ||||
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(OMIM) | Intravascular hemolysis | 1 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Description: (OMIM) |
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 ... |
| Clinical Description OMIM |
Valentine et al. (1974) showed deficiency of this enzyme in 4 subjects with hereditary hemolytic anemia. Ribosephosphate pyrophosphokinase was severely reduced, probably as an epiphenomenon resulting from inhibition of its synthesis by high concentrations of pyrimidine. ... |
| Molecular genetics OMIM |
In patients with hemolytic anemia due to deficiency of P5N, Marinaki et al. (2001) identified mutations in the UMPH1 gene (606224.0001-606224.0003). In Turkish patients with pyrimidine 5-prime nucleotidase deficiency (266120), Balta et al. (2003) identified homozygous ... |