ORPHA:85
Congenital dyserythropoietic anemia
Synonyms: CDA
- Type
- Clinical group
- Group
- Group of disorders
- Inheritance
- Autosomal dominant, Autosomal recessive, X-linked recessive
- Age of onset
- Childhood
- Status
- active
A group of hematologic diseases characterized by impaired late-stage erythropoiesis and abnormal erythroid precursors, leading to chronic anemia of variable severity.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital dyserythropoietic anemia | CDA |
| fr | Anémie dysérythropoïétique congénitale | = en |
| de | Anämie, dyserythropoetische kongenitale | = en |
| es | Anemia diseritropoyética congénita | = en |
| it | Anemia diseritropoietica congenita | = en |
| nl | Congenitale dyserytropoëtische anemie | = en |
| pt | Anemia diseritropoiética congénita | = en |
| pl | Wrodzona niedokrwistość dyserytropoetyczna | = en |
| cs | Vrozená dyserytropoetická anémie | = en |
| uk | Вроджена дизеритропоетична анемія | = en |
| zh | 先天性红细胞生成障碍性贫血 | = en |
| tr | Doğumsal dizeritropoietik anemi | = en |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 105600 | BTNT | validated | |
| OMIM | 224100 | BTNT | validated | |
| OMIM | 224120 | BTNT | validated | |
| OMIM | 613673 | BTNT | validated | |
| OMIM | 615631 | BTNT | validated | |
| OMIM | 619789 | BTNT | validated | |
| ICD-10 | D64.4 | E | specific | validated |
| ICD-11 | 3A73 | E | specific | validated |
| MONDO | 0019403 | E | validated | |
| MeSH | D000742 | E | validated | |
| UMLS | C0002876 | E | validated | |
| GARD | 1999 | E | validated | |
| MedDRA | 10081457 | 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 (1):
- ORPHA:293830Constitutional dyserythropoietic anemia
rare genetic diseases; rare hematological diseases
Children (7):
- ORPHA:293825Autosomal dominant KLF1-related dyserythropoietic anemia
- ORPHA:727394Autosomal recessive KLF1-related severe anemia
- ORPHA:98869Congenital dyserythropoietic anemia type I
- ORPHA:98873Congenital dyserythropoietic anemia type II
- ORPHA:98870Congenital dyserythropoietic anemia type III
- ORPHA:67044Thrombocytopenia with congenital dyserythropoietic anemia
- ORPHA:363727X-linked dyserythropoietic anemia with abnormal platelets and neutropenia
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
4 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 1 000 000 | 0.16 / 100 000 | Europe | Value and class | Not yet validated | 20824457[PMID] |
| Point prevalence | 1-9 / 1 000 000 | — | Europe | Class only | Not yet validated | 20824457[PMID] |
| Cases/families | 740 cases | Worldwide | Case(s) | Validated | 20665989[PMID] | |
| Point prevalence | 1-9 / 1 000 000 | — | Worldwide | Class only | Validated | 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.
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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/85
- This record as JSON: /data/d/85.json