ORPHA:99138
Hemolytic anemia due to erythrocyte adenosine deaminase overproduction
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Status
- active
Hemolytic anemia due to erythrocyte adenosine deaminase overproduction is a rare, genetic, hematologic disease characterized by mild, chronic hemolytic anemia (due to highly elevated adenosine deaminase activity in red blood cells resulting in their premature destruction), elevated reticulocyte count, splenomegaly and mild hyperbilirubinemia. Other cells and tissues are not affected.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hemolytic anemia due to erythrocyte adenosine deaminase overproduction | |
| fr | Anémie hémolytique due à une surproduction d'adénosine désaminase | |
| de | Hämolytische Anämie durch erythrozytäre Adenosin-Desaminase-Überproduktion | |
| es | Anemia hemolítica por sobreproducción de adenosina deaminasa en eritrocitos | |
| it | Anemia emolitica da eccesso di adenosina deaminasi negli eritrociti | |
| nl | Hemolytische anemie door erytrocytadenosinedeaminase-overproductie | |
| pt | Excesso de adenosina deaminase | |
| pl | Niedokrwistość hemolityczna z powodu nadprodukcji deaminazy adenozyny w erytrocytach | |
| cs | Hemolytická anémie způsobená nadprodukcí erytrocytární adenosin deaminázy | |
| uk | Гемолітична анемія внаслідок надмірного вироблення аденозиндезамінази еритроцитів | |
| zh | 红细胞腺苷脱氨酶生成过多所致溶血性贫血 | |
| tr | Aşırı eritrosit adenozin deaminaz üretimine bağlı hemolitik anemi |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | D55.3 | NTBT | attributed | validated |
| ICD-11 | 3A10.1 | E | specific | validated |
| MONDO | 0020458 | E | validated | |
| UMLS | C0340960 | 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:79191Disorder of purine 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.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
0 recordsNo prevalence record in this release.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/99138
- This record as JSON: /data/d/99138.json