ORPHA:727394
Autosomal recessive KLF1-related severe anemia
Synonyms: Congenital dyserythropoietic anemia type IVb · Congenital dyserythropoietic anemia type 4b · CDA type IVb · CDA type 4b
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
Orphadata ships no English definition for this code.
1
Names in Orphadata languages
9 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal recessive KLF1-related severe anemia | Congenital dyserythropoietic anemia type IVb · Congenital dyserythropoietic anemia type 4b · CDA type IVb · CDA type 4b |
| fr | Anémie sévère autosomique récessive associée à KLF1 | Anémie dysérythropoïétique congénitale type IVb · Anémie dysérythropoïétique congénitale type 4b · CDA type IVb · CDA type 4b |
| de | KLF1-assoziierte schwere Anämie, autosomal-rezessive | CDA Typ 4b · CDA Typ IVb · Kongenitale dyserythropoetische Anämie Typ 4b · Anämie, dyserythropoetische, kongenitale, Typ IVb |
| es | Anemia grave autosómica recesiva asociada al gen KLF1 | ADC tipo 4b · ADC tipo IVb · Anemia diseritropoyética congénita tipo 4b · Anemia diseritropoyética congénita tipo IVb |
| it | Anemia grave autosomica recessiva correlata a KLF1 | Anemia diseritropoietica congenita tipo 4b · Anemia diseritropoietica congenita tipo IVb · CDA tipo 4b · CDA tipo IVb |
| nl | Autosomaal recessieve KLF1-gerelateerde ernstige anemie | CDA type 4b · CDA type IVb · Congenitale dyserytropoëtische anemie type 4b · Congenitale dyserytropoëtische anemie type Ivb |
| pt | Autosomal recessive KLF1-related severe anemia | |
| pl | Autosomal recessive KLF1-related severe anemia | = en |
| cs | Autosomal recessive KLF1-related severe anemia | = en |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 620969 | 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:85Congenital dyserythropoietic anemia
rare genetic diseases; rare hematological diseases - ORPHA:182043Rare constitutional hemolytic anemia
rare genetic diseases; rare hematological diseases
No children.
4
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 | 24443441[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 12 cases | Worldwide | Case(s) | Validated | 34554218[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 34554218[PMID]_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/727394
- This record as JSON: /data/d/727394.json