X-linked dyserythropoetic anemia with abnormal platelets and neutropenia
General Information (adopted from Orphanet):
| Synonyms, Signs: |
XLANP |
| Number of Symptoms | 27 |
| OrphanetNr: | 363727 |
| OMIM Id: |
300835
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| ICD-10: |
D64.4 |
| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
X-linked recessive [Orphanet] |
| Age of onset: |
All ages [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Congenital dyserythropoietic anemia
-Rare genetic disease -Rare hematologic disease Rare hemorrhagic disorder due to a constitutional thrombocytopenia -Rare genetic disease -Rare hematologic disease |
Symptom Information:
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(HPO:0001900) | Increased hemoglobin | 7 / 7739 | ||||
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(HPO:0011273) | Anisocytosis | 8 / 7739 | ||||
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(HPO:0004445) | Elliptocytosis | 15 / 7739 | ||||
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(HPO:0001972) | Macrocytic anemia | 26 / 7739 | ||||
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(HPO:0012135) | Abnormality of cells of the granulocytic lineage | rare [HPO:skoehler] | 2 / 7739 | |||
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(HPO:0001873) | Thrombocytopenia | rare [HPO:skoehler] | 224 / 7739 | |||
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(HPO:0004312) | Abnormality of reticulocytes | 1 / 7739 | ||||
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(HPO:0004447) | Poikilocytosis | 16 / 7739 | ||||
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(HPO:0001875) | Neutropenia | 83 / 7739 | ||||
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(HPO:0011875) | Abnormal platelet morphology | rare [HPO:skoehler] | 8 / 7739 | |||
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(HPO:0003540) | Impaired platelet aggregation | rare [HPO:skoehler] | 17 / 7739 | |||
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(OMIM) | Neutropenia, variable | 1 / 7739 | ||||
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(OMIM) | Bone marrow biopsy shows erythrocyte hypocellularity | 1 / 7739 | ||||
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(HPO:0003828) | Variable expressivity | 130 / 7739 | ||||
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(OMIM) | Abnormal platelet morphology with paucity of granules (in some patients) | 1 / 7739 | ||||
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(HPO:0003593) | Infantile onset | 249 / 7739 | ||||
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(OMIM) | Granulocyte hypocellularity (in some patients) | 1 / 7739 | ||||
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(HPO:0001419) | X-linked recessive inheritance | 189 / 7739 | ||||
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(MedDRA:10025382) | Macrocytosis | 3 / 7739 | ||||
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(OMIM) | Peripheral blood smear shows abnormal red cells | 1 / 7739 | ||||
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(OMIM) | Micromegakaryocytes (in some patients) | 1 / 7739 | ||||
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(OMIM) | Fragmented red cells | 1 / 7739 | ||||
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(OMIM) | Elliptocytes | 1 / 7739 | ||||
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(OMIM) | Trilineage dysplasia (in some patients) | 1 / 7739 | ||||
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(OMIM) | Thrombocytopenia, late-onset (1 patient) | 1 / 7739 | ||||
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(OMIM) | Inappropriately low reticulocyte counts | 1 / 7739 | ||||
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(OMIM) | Increased fetal hemoglobin | 5 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Description: (OMIM) |
XLANP is an X-linked recessive hematologic disorder characterized by early-onset anemia and bone marrow erythroid hypoplasia with variable neutropenia. Some patients may have low platelets or platelet abnormalities. The severity is variable. Some patients have shown a favorable ... |
| Clinical Description OMIM |
Hollanda et al. (2006) described a Brazilian family in which 8 males in 2 generations had moderate to severe anemia without thrombocytopenia. Some affected individuals had variable degrees of neutropenia and some had increased fetal hemoglobin. Peripheral blood ... |
| Molecular genetics OMIM |
In 8 affected males in 2 generations of a family with macrocytic anemia, with or without neutropenia and/or platelet abnormalities, Hollanda et al. (2006) identified a germline splice site mutation in the GATA1 gene (332G-C; 305371.0008), resulting in ... |