X-linked dyserythropoietic anemia with abnormal platelets and neutropenia
- Type
- Disease
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- All ages
- Status
- active
A rare congenital X-linked dyserythropoietic anemia characterized by moderate to severe anemia without thrombocytopenia, variable degrees of neutropenia, and bone marrow findings of trilineage dysplasia with hypocellularity of erythroid and granulocytic lineages. Peripheral blood shows anisocytosis, macrocytosis, poikilocytosis, elliptocytes, and fragmented erythrocytes. Platelet count is typically normal, although platelet morphology may be abnormal.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | X-linked dyserythropoietic anemia with abnormal platelets and neutropenia | |
| fr | Anémie dysérythropoïétique liée à l'X avec plaquettes anormales et neutropénie | |
| de | X-chromosomale dyserythropoetische Anämie mit abnormen Blutplättchen und Neutropenie | |
| es | Anemia diseritropoyética ligada al cromosoma X con plaquetas anómalas y neutropenia | |
| it | Anemia diseritropoietica legata all'X con anomalia delle piastrine e neutropenia | |
| nl | X-gebonden dyserytropoëtische anemie met abnormale bloedplaatjes en neutropenie | |
| pt | Anemia deseritropoiética com plaquetas anómalas e neutropenia, ligada ao cromossoma X | |
| pl | Sprzężona z chromosomem X niedokrwistość dyserytropoetyczna z nieprawidłowymi płytkami i neutropenią | |
| cs | X-vázaná dyserytropoetická anémie s abnormálními destičkami a neutropenií | |
| uk | Х-зчеплена дизеритропоетична анемія з аномальними тромбоцитами та нейтропенією | |
| zh | X连锁伴血小板异常和中性粒细胞减少的红细胞生成异常性贫血 | |
| tr | Anormal trombositler ve nötropeni ile seyreden X'e bağlı dizeritropoietik anemi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 300835 | E | validated | |
| ICD-10 | D64.4 | NTBT | attributed | validated |
| ICD-11 | 3A73 | NTBT | attributed | validated |
| MONDO | 0010444 | E | validated | |
| UMLS | C5190600 | 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 (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.
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 | 16783379[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Europe | Class only | Not yet validated | ORPHANET |
| Cases/families | 1 families | Worldwide | Family(ies) | Validated | 16783379[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/363727
- This record as JSON: /data/d/363727.json