ORPHA:67044
Thrombocytopenia with congenital dyserythropoietic anemia
Synonyms: Congenital dyserythropoietic anemia with thombocytopenia · X-linked congenital dyserythropoietic anemia with thrombocytopenia · XDAT
- Type
- Disease
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare hematological disorder characterized by moderate to severe thrombocytopenia with hemorrhages with or without the presence of mild to severe anemia. The disease affects almost exclusively males.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Thrombocytopenia with congenital dyserythropoietic anemia | Congenital dyserythropoietic anemia with thombocytopenia · X-linked congenital dyserythropoietic anemia with thrombocytopenia · XDAT |
| fr | Thrombocytopénie avec anémie dysérythropoïétique congénitale | Anémie dysérythropoïétique congénitale avec thrombocytopénie · Syndrome d'anémie dysérythropoïétique congénitale-thrombocytopénie lié à l'X · XDAT |
| de | Thrombozytopenie mit kongenitaler dyserythropoetischer Anämie | X-chromosomale Thrombozytopenie mit CDA · X-chromosomale kongenitale dyserythropoetische Anämie mit Thrombozytopenie · XDAT |
| es | Trombocitopenia con anemia diseritropoyética congénita | Anemia diseritropoyética congénita con trombocitopenia · Anemia diseritropoyética congénita ligada al cromosoma X con trombocitopenia · XDAT |
| it | Trombocitopenia con anemia diseritropoietica congenita | Anemia diseritropoieitica congenita con trombocitopenia · Anemia diseritropoieitica congenita legata all'X con trombocitopenia · XDAT |
| nl | Trombocytopenie met congenitale dyserytropoëtische anemie | Congenitale dyserytropoëtische anemie met trombocytopenie · X-gebonden congenitale dyserytropoëtische anemie met trombocytopenie · XDAT |
| pt | Anemia diseritropoiética com trombocitopenia | Anemia e trombocitopenia diseritropoiética ligada ao X |
| pl | Trombocytopenia z wrodzoną niedokrwistością dyserytropoetyczną | Wrodzona niedokrwistość dyserytropoetyczna z małopłytkowością · Wrodzona niedokrwistość dyserytropoetyczna z małopłytkowością sprzężona z chromosomem X · XDAT |
| cs | Trombocytopenie s vrozenou dyserytropoetickou anémií | Vrozená dyserytropoetická anémie s trombocytopenií · X-vázaná vrozená dyserytropoetická anémie s trombocytopenií · XDAT |
| uk | Тромбоцитопенія при вродженій дизеритропоетичній анемії | Вроджена дизеритропоетична анемія з тромбоцитопенією · XDAT · Х-зчеплена вроджена дизеритропоетична анемія з тромбоцитопенією |
| zh | 血小板减少症伴先天性红细胞生成障碍性贫血 | X-连锁先天性红细胞生成障碍性贫血伴血小板减少 |
| tr | Doğumsal diseritropoietik anemi ile seyreden trombositopeni | XDAT · Tombositopeni ile seyreden Doğumsal dizeritropoietik anemi · Trombositopeni ile seyreden X'e bağlı Doğumsal diseritropoietik anemi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 300367 | NTBT | validated | |
| ICD-10 | D69.4 | NTBT | attributed | validated |
| ICD-11 | 3A73 | NTBT | index | validated |
| MONDO | 0019031 | E | validated | |
| UMLS | C4302508 | 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:220452Isolated hereditary giant platelet disorder
rare genetic diseases; rare hematological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| GATA1 | Disease-causing germline mutation(s) in | Assessed | HGNC:4170 | ENSG00000102145 | 305371 | Xp11.23 | GATA binding protein 1 |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 3 families | Worldwide | Family(ies) | Validated | 20301538[PMID] | |
| Point prevalence | <1 / 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
9 annotations · validated 2017-06-12| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0045040 | Abnormal lactate dehydrogenase activity | |
| HP:0012143 | Abnormal megakaryocyte morphology | |
| HP:0012145 | Abnormality of multiple cell lineages in the bone marrow | |
| HP:0010972 | Anemia of inadequate production | |
| HP:0011273 | Anisocytosis | |
| HP:0000028 | Cryptorchidism | |
| HP:0001931 | Hypochromic anemia | |
| HP:0040185 | Macrothrombocytopenia | |
| HP:0004447 | Poikilocytosis | |
Run the differential on the 9 obligate / very frequent terms
Annotation source: 11809723[PMID]_10700180[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/67044
- This record as JSON: /data/d/67044.json