Autosomal dominant KLF1-related dyserythropoietic anemia
Synonyms: Congenital dyserythropoietic anemia type IVa · Congenital dyserythropoietic anemia type 4a · CDA type IVa · CDA type 4a
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
A form of congenital dyserythropoietic anemia (CDA) characterized by ineffective erythropoiesis and hemolysis that leads to severe anemia at birth, requiring repeated transfusions. The majority of affected individuals experience severe hemolytic anemia, often accompanied by a normal or slightly elevated reticulocyte count, hepatosplenomegaly, hyperbilirubinemia, and persistence of fetal hemoglobin. Hypertrophic cardiomyopathy and occasional dysmorphic features, including large anterior fontanel, hypertelorism, micropenis, and hypospadias, have also been reported. All documented cases to date share the same dominant-negative missense variant, E325K, in the <i>KLF1</i> gene (19p13.2).
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal dominant KLF1-related dyserythropoietic anemia | Congenital dyserythropoietic anemia type IVa · Congenital dyserythropoietic anemia type 4a · CDA type IVa · CDA type 4a |
| fr | Anémie dysérythropoïétique autosomique dominante associée à KLF1 | CDA type 4a · Anémie dysérythropoïétique congénitale type IVa · Anémie dysérythropoïétique congénitale type 4a · CDA type IVa |
| de | KLF1-assoziierte dyserythropoetische Anämie, autosomal-dominante | CDA Typ IVa · CDA Typ 4a · Anämie, dyserythropoetische kongenitale, Typ IVa · Kongenitale dyserythropoetische Anämie Typ 4a |
| es | Anemia diseritropoyética asociada al gen KLF1 autosómica dominante | ADC tipo 4a · ADC tipo IVa · Anemia diseritropoyética congénita tipo IVa · Anemia diseritropoyética congénita tipo 4a · CDA tipo 4a · CDA tipo IVa |
| it | Anemia diseritropoietica autosomica dominante correlata a KLF1 | CDA tipo 4a · Anemia diseritropoietica congenita, tipo 4 · CDA tipo Iva · CDA da mutazione di KLF1 · Anemia diseritropoietica congenita di tipo 4a · Anemia diseritropoietica congenita di tipo IVa |
| nl | Autosomaal dominante KLF1-gerelateerde dyserytropoëtische anemie | CDA type IVa · CDA type 4a · Congenitale dyserytropoëtische anemie type IVa · Congenitale dyserytropoëtische anemie type 4a |
| pt | Anemia diseritropoiética congénita por mutação em KLF1 | CDA por mutação em KLF1 |
| pl | Wrodzona niedokrwistość dyserytropoetyczna typu IV | CDA IV · CDA typu 4 · CDA typu IV · CDA z powodu mutacji KLF1 · CDAN4 · Wrodzona niedokrwistość dyserytropoetyczna typu 4 · Wrodzona niedokrwistość dyserytropoetyczna z powodu mutacji KLF1 |
| cs | Kongenitální dyserytropoetická anémie, typ IV | CDA IV · CDA, typ 4 · CDA, typ IV · CDAN4 · Vrozená dyserytropoetická anémie, typ 4 · CDA způsobená mutací KLF1 · Vrozená dyserytropoetická anémie způsobená mutací KLF1 |
| uk | Вроджена дизеритропоетична анемія, тип IV | CDA через мутацію KLF1 · CDA IV · CDA тип 4 · CDA тип IV · CDAN4 · Вроджена дизеритропоетична анемія внаслідок мутації KLF1 · Вроджена дизеритропоетична анемія типу 4 |
| zh | 先天性红细胞生成障碍性贫血IV型 | KLF1基因突变所致先天性红细胞生成障碍性贫血 |
| tr | Doğumsal dizeritropoietik anemi tip IV | CDAN4 · CDA IV · CDA tip 4 · CDA tip IV · KLF1 mutasyonuna bağlı CDA · Doğumsal diseritropoetik anemi tip 4 · KLF1 mutasyonuna bağlı doğumsal diseritropoetik anemi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 613673 | E | validated | |
| ICD-10 | D64.4 | NTBT | attributed | validated |
| ICD-11 | 3A73 | NTBT | attributed | validated |
| MONDO | 0013355 | E | validated | |
| UMLS | C3150926 | 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 (1):
- ORPHA:85Congenital dyserythropoietic anemia
rare genetic diseases; rare hematological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| KLF1 | Disease-causing germline mutation(s) in | Assessed | HGNC:6345 | ENSG00000105610 | 600599 | 19p13.13 | KLF transcription factor 1 |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 4 cases | Worldwide | Case(s) | Validated | 23522491[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_23522491[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.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/293825
- This record as JSON: /data/d/293825.json