ORPHA:766
Hemolytic anemia due to red cell pyruvate kinase deficiency
Synonyms: Pyruvate kinase deficiency of erythrocytes
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare, genetic metabolic disorder due to pyruvate kinase deficiency characterized by a variable degree of chronic nonspherocytic hemolytic anemia resulting in a variable clinical manifestations ranging from fatal anemia at birth to a to a fully compensated hemolysis without apparent anemia.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hemolytic anemia due to red cell pyruvate kinase deficiency | Pyruvate kinase deficiency of erythrocytes |
| fr | Anémie hémolytique par déficit en pyruvate kinase du globule rouge | Déficit en pyruvate kinase érythrocytaire |
| de | Hämolytische Anämie durch Mangel der erythrozytären Pyruvatkinase | Pyruvatkinase-Mangel der Erythrozyten |
| es | Anemia hemolítica por deficiencia de piruvato quinasa de los glóbulos rojos | |
| it | Anemia emolitica da deficit di piruvato chinasi negli eritrociti | Deficit di piruvato chinasi negli eritrociti |
| nl | Hemolytische anemie door deficiëntie van pyruvaatkinase in rode bloedcellen | Pyruvaatkinasedeficiëntie van erytrocyten |
| pt | Anemia hemolítica por deficiência de piruvato cinase dos eritrócitos | Deficiência de piruvato cinase dos eritrócitos |
| pl | Niedokrwistość hemolityczna spowodowana niedoborem kinazy pirogronianowej czerwonych krwinek | Niedobó kinazy pirogronowej erytrocytów |
| cs | Hemolytická anémie způsobená deficitem pyruvátkinázy červených krvinek | Deficit pyruvátkinázy erytrocytů |
| uk | Гемолітична анемія внаслідок дефіциту піруваткінази еритроцитів | Дефіцит піруваткінази еритроцитів |
| zh | 红细胞丙酮酸激酶缺乏所致溶血性贫血 | 红细胞丙酮酸激酶缺陷 |
| tr | Kırmızı hücre piruvat kinaz eksikliğine bağlı hemolitik anemi | Eritrositlerin piruvat kinaz eksikliği |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 266200 | E | validated | |
| ICD-10 | D55.2 | NTBT | inclusion | validated |
| ICD-11 | 3A10.Y | NTBT | index | validated |
| MONDO | 0009950 | E | validated | |
| MeSH | C564858 | E | validated | |
| UMLS | C0340968 | E | validated | |
| GARD | 7514 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:98372Hemolytic anemia due to a disorder of glycolytic enzymes
rare genetic diseases; rare hematological diseases - ORPHA:254746Pyruvate metabolism disorder
rare inborn errors of metabolism; rare genetic diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PKLR | Disease-causing germline mutation(s) in | Assessed | HGNC:9020 | ENSG00000143627 | 609712 | 1q22 | pyruvate kinase L/R | 15953013[PMID]_16704447[PMID] |
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Prevalence and incidence
3 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 5.1 / 100 000 | Specific population | Value and class | Validated | 10828047[PMID] |
| Point prevalence | 1-9 / 100 000 | 5 / 100 000 | Europe | Value and class | Validated | European Medicines Agency 2014[OTHER] |
| Point prevalence | 1-9 / 1 000 000 | 0.96 / 100 000 | Specific population | Value and class | Validated | 1511997[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
15 annotations · validated 2017-06-02| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001903 | Anemia | |
| HP:0004870 | Chronic hemolytic anemia | |
| HP:0025109 | Reduced red cell pyruvate kinase level | |
| HP:0001923 | Reticulocytosis | |
| HP:0001744 | Splenomegaly | |
| HP:0008282 | Unconjugated hyperbilirubinemia | |
| Frequent (79-30%) | ||
| HP:0004804 | Congenital hemolytic anemia | |
| HP:0001789 | Hydrops fetalis | |
| HP:0003281 | Increased circulating ferritin concentration | |
| HP:0003452 | Increased circulating iron concentration | |
| HP:0006579 | Prolonged neonatal jaundice | |
| Occasional (29-5%) | ||
| HP:0001877 | Abnormal erythrocyte morphology | |
| HP:0011273 | Anisocytosis | |
| HP:0012463 | Elevated transferrin saturation | |
| HP:0004447 | Poikilocytosis | |
Run the differential on the 6 obligate / very frequent terms
Annotation source: 463878[PMID]_15982340[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/766
- This record as JSON: /data/d/766.json