ORPHA:98870
Congenital dyserythropoietic anemia type III
Synonyms: CDA III · CDA type 3 · CDA type III · Congenital dyserythropoietic anemia type 3
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- All ages
- Status
- active
A rare form of congenital dyserythropoietic anemia (CDA) characterized by dyserythropoiesis, with big multinucleated erythroblasts in the bone marrow, and manifesting with mild to moderate anemia.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital dyserythropoietic anemia type III | CDA III · CDA type 3 · CDA type III · Congenital dyserythropoietic anemia type 3 |
| fr | Anémie dysérythropoïétique congénitale type III | Anémie dysérythropoïétique congénitale type 3 · CDA III · CDA type 3 · CDA type III |
| de | Anämie, dyserythropoetische, kongenitale, Typ III | CDA III · CDA Typ 3 · CDA Typ III · Kongenitale dyserythropoetische Anämie Typ 3 |
| es | Anemia diseritropoyética congénita tipo III | Anemia diseritropoyética congénita tipo 3 · CDA III · CDA tipo 3 · CDA tipo III |
| it | Anemia diseritropoietica congenita, tipo III | Anemia diseritropoietica congenita, tipo 3 · CDA III · CDA, tipo 3 · CDA, tipo III |
| nl | Congenitale dyserytropoëtische anemie type III | CDA III · CDA type 3 · CDA type III · Congenitale dyserytropoëtische anemie type 3 |
| pt | Anemia diseritropoiética congénita tipo III | Anemia diseritropoiética congénita tipo 3 · CDA 3 · CDA III · CDA tipo III |
| pl | Wrodzona niedokrwistość dyserytopoetyczna typu III | CDA III · CDA typu 3 · CDA typu III · Wrodzona niedokrwistość dyserytopoetyczna typu 3 |
| cs | Vrozená dyserytropoetická anémie, typ III | CDA III · CDA typ 3 · CDA typ III · Vrozená dyserytropoetická anémie, typ 3 |
| uk | Вроджена дизеритропоетична анемія, тип III | CDA III · CDA тип 3 · CDA тип III · Вроджена дизеритропоетична анемія типу 3 |
| zh | 先天性红细胞生成障碍性贫血III型 | 先天性红细胞生成障碍性贫血3型 |
| tr | Doğumsal dizeritropoietik anemi tip III | CDA III · CDA tip 3 · CDA tip III · Doğumsal dizeritropoietik anemi tip 3 |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 105600 | BTNT | validated | |
| OMIM | 619789 | BTNT | validated | |
| ICD-10 | D64.4 | NTBT | attributed | validated |
| ICD-11 | 3A73 | NTBT | index | validated |
| MONDO | 0007109 | E | validated | |
| UMLS | C0271934 | E | validated | |
| GARD | 2002 | 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 |
|---|---|---|---|---|---|---|---|---|
| KIF23 | Disease-causing germline mutation(s) in | Assessed | HGNC:6392 | ENSG00000137807 | 605064 | 15q23 | kinesin family member 23 | 23570799[PMID] |
| RACGAP1 | Disease-causing germline mutation(s) in | Assessed | HGNC:9804 | ENSG00000161800 | 604980 | 12q13.12 | Rac GTPase activating protein 1 |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 60 cases | Worldwide | Case(s) | Validated | 23570799[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_23570799[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
20 annotations · validated 2017-06-08| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001903 | Anemia | |
| HP:0011273 | Anisocytosis | |
| HP:0004447 | Poikilocytosis | |
| Frequent (79-30%) | ||
| HP:0025354 | Abnormal cellular phenotype | |
| HP:0025035 | Abnormal proerythroblast morphology | |
| HP:0012130 | Abnormality of cells of the erythroid lineage | |
| HP:0012378 | Fatigue | |
| HP:0002904 | Hyperbilirubinemia | |
| HP:0003452 | Increased circulating iron concentration | |
| HP:0005518 | Increased mean corpuscular volume | |
| HP:0025196 | Increased total iron binding capacity | |
| Occasional (29-5%) | ||
| HP:0001877 | Abnormal erythrocyte morphology | |
| HP:0002910 | Elevated circulating hepatic transaminase concentration | |
| HP:0000225 | Gingival bleeding | |
| HP:0002315 | Headache | |
| HP:0002249 | Melena | |
| HP:0030140 | Oral cavity bleeding | |
| HP:0000980 | Pallor | |
| HP:0011891 | Post-partum hemorrhage | |
| Very rare (<4-1%) | ||
| HP:0004322 | Short stature | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 14886400[PMID]_13867810[PMID]_4432872[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/98870
- This record as JSON: /data/d/98870.json