ORPHA:98869
Congenital dyserythropoietic anemia type I
Synonyms: CDA I · CDA type 1 · CDA type I · Congenital dyserythropoietic anemia type 1
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Adult, Childhood, Infancy, Neonatal
- Status
- active
A form of congenital dyserythropoietic anemia (CDA) characterized by moderate to severe anemia, often macrocytic, occasionally associated with congenital malformations, primarily affecting the distal extremities.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital dyserythropoietic anemia type I | CDA I · CDA type 1 · CDA type I · Congenital dyserythropoietic anemia type 1 |
| fr | Anémie dysérythropoïétique congénitale type I | Anémie dysérythropoïétique congénitale type 1 · CDA I · CDA type 1 · CDA type I |
| de | Anämie, dyserythropoetische, kongenitale, Typ I | CDA I · CDA Typ 1 · CDA Typ I · Kongenitale dyserythropoetische Anämie Typ 1 |
| es | Anemia diseritropoyética congénita tipo I | Anemia diseritropoyética congénita tipo 1 · CDA I · CDA tipo 1 · CDA tipo I |
| it | Anemia diseritropoietica congenita, tipo I | Anemia diseritropoietica congenita, tipo 1 · CDA, tipo 1 · CDA, tipo I · CDAI |
| nl | Congenitale dyserytropoëtische anemie type I | CDA I · CDA type 1 · CDA type I · Congenitale dyserytropoëtische anemie type 1 |
| pt | Anemia diseritropoiética congénita tipo I | Anemia diseritropoiética congénita tipo I · CDA I · CDA tipo1 · CDA tipoI |
| pl | Wrodzona niedokrwistość dyserytopoetyczna typu I | CDA I · CDA typu 1 · CDA typu I · Wrodzona niedokrwistość dyserytopoetyczna typu 1 |
| cs | Vrozená dyserytropoetická anémie, typ I | CDA I · CDA typ 1 · CDA typ I · Vrozená dyserytropoetická anémie, typ 1 |
| uk | Вроджена дизеритропоетична анемія, тип I | CDA I · CDA тип 1 · CDA тип I · Вроджена дизеритропоетична анемія типу 1 |
| zh | 先天性红细胞生成障碍性贫血I型 | 先天性红细胞生成障碍性贫血1型 |
| tr | Doğumsal dizeritropoietik anemi tip I | CDA I · CDA tip 1 · CDA tip I · Doğumsal dizeritropoietik anemi tip 1 |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 224120 | E | validated | |
| OMIM | 615631 | BTNT | validated | |
| ICD-10 | D64.4 | NTBT | attributed | validated |
| ICD-11 | 3A73 | NTBT | index | validated |
| MONDO | 0020337 | E | validated | |
| UMLS | C0271933 | E | validated | |
| GARD | 2000 | 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:85Congenital dyserythropoietic anemia
rare genetic diseases; rare hematological diseases
No children.
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Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CDAN1 | Disease-causing germline mutation(s) in | Assessed | HGNC:1713 | ENSG00000140326 | 607465 | 15q15.2 | codanin 1 | |
| CDIN1 | Disease-causing germline mutation(s) in | Assessed | HGNC:26929 | ENSG00000186073 | 615626 | 15q14 | CDAN1 interacting nuclease 1 | 23716552[PMID] |
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Prevalence and incidence
4 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Europe | Class only | Validated | 20665989[PMID]_[EXPERT] |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
| Prevalence at birth | 1-9 / 1 000 000 | 0.5 / 100 000 | Worldwide | Value and class | Validated | 32518175[PMID]_ORPHANET |
| Cases/families | 300 cases | Worldwide | Case(s) | Validated | 30836435[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
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/98869
- This record as JSON: /data/d/98869.json