Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency
Synonyms: P5N deficiency · UMPH1 deficiency · Uridine 5'-monophosphate hydrolase deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency is a rare, hereditary, hemolytic anemia due to an erythrocyte nucleotide metabolism disorder characterized by mild to moderate hemolytic anemia associated with basophilic stippling and the accumulation of high concentrations of pyrimidine nucleotides within the erythrocyte. Patients present with variable features of jaundice, splenomegaly, hepatomegaly, gallstones, and sometimes require transfusions. Rare cases of mild development delay and learning difficulties are reported.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency | P5N deficiency · UMPH1 deficiency · Uridine 5'-monophosphate hydrolase deficiency |
| fr | Anémie hémolytique par déficit en pyrimidine 5' nucléotidase | Déficit en P5N · Déficit en UMPH1 · Déficit en uridine 5'-monophosphate hydrolase |
| de | Hämolytische Anämie durch Pyrimidin-5'-Nukleotidase-Mangel | P5N-Mangel · UMPH1-Mangel · Uridine 5'-Monophosphat-Hydrolase-Mangel |
| es | Anemia hemolítica por deficiencia de pirimidina 5' nucleotidasa | Deficiencia de hidrolasa del monofosfato de uridina 5 · Deficiencia de P5N · Deficiencia de UMPH1 |
| it | Anemia emolitica da deficit di pirimidina 5' nucleotidasi | Deficit di P5N · Deficit di UMPH1 · Deficit di uridina-5'-monofosfato idrolasi |
| nl | Hemolytische anemie als gevolg van pyrimidine-5'-nucleotidasedeficiëntie | P5N-deficiëntie · UMPH1-deficiëntie · Uridine-5'-monofosfaathydrolasedeficiëntie |
| pt | Anemia hemolítica devida a deficiência de pirimidina 5' nucleotidase | Deficiência de pirimidina 5' nucleotidase |
| pl | Niedokrwistość hemolityczna z powodu niedoboru 5'nukleotydazy pirymidynowej | Niedobór hydrolazy 5' monofosforanu urydyny · Niedobór P5N · Niedobór UMPH1 |
| cs | Hemolytická anémie způsobená nedostatkem pyrimidin-5-nukleotidázy | Deficit P5N · Deficit UMPH1 · Deficit uridin-5-monofosfát hydrolázy |
| uk | Гемолітична анемія внаслідок дефіциту піримідин 5 нуклеотидази | Дефіцит P5N · Дефіцит UMPH1 · Дефіцит уридин 5-монофосфатгідролази |
| zh | 5-核苷酸嘧啶缺乏所致溶血性贫血 | 尿苷5'-单磷酸水解酶缺乏症 |
| tr | Pirimidin 5 'nükleotidaz eksikliğine bağlı hemolitik anemi | P5N eksikliği · UMPH1 eksikliği · Üridin 5'-monofosfat hidrolaz eksikliği |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 266120 | E | validated | |
| ICD-10 | D55.3 | NTBT | attributed | validated |
| ICD-11 | 3A10.Y | NTBT | index | validated |
| MONDO | 0009946 | E | validated | |
| MeSH | C564859 | E | validated | |
| UMLS | C1849507 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:79193Disorder of pyrimidine metabolism
rare inborn errors of metabolism; rare genetic diseases - ORPHA:98374Hemolytic anemia due to an erythrocyte nucleotide metabolism disorder
rare genetic diseases; rare hematological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| NT5C3A | Disease-causing germline mutation(s) in | Assessed | HGNC:17820 | ENSG00000122643 | 606224 | 7p14.3 | 5'-nucleotidase, cytosolic IIIA | 11369620[PMID]_12714505[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 3 cases | Worldwide | Case(s) | Validated | 6317231[PMID]_11369620[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 6317231[PMID]_11369620[PMID]_ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/35120
- This record as JSON: /data/d/35120.json