Thrombocytopenia with congenital dyserythropoietic anemia

General Information (adopted from Orphanet):

Synonyms, Signs: XDAT
XLTDA
X-linked congenital dyserythropoietic anemia with thrombocytopenia
Congenital dyserythropoietic anemia with thombocytopenia
Number of Symptoms 22
OrphanetNr: 67044
OMIM Id: 300367
ICD-10: D69.4
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: X-linked recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Congenital dyserythropoietic anemia
 -Rare genetic disease
 -Rare hematologic disease
Inherited giant platelet disorder
 -Rare genetic disease
 -Rare hematologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000421) Epistaxis 85 / 7739
2
 (HPO:0000967) Petechiae 26 / 7739
3
 (HPO:0000978) Bruising susceptibility 123 / 7739
4
 (HPO:0001934) Persistent bleeding after trauma 8 / 7739
5
 (HPO:0010972) Anemia of inadequate production 10 / 7739
6
 (HPO:0001873) Thrombocytopenia 224 / 7739
7
 (HPO:0001905) Congenital thrombocytopenia 4 / 7739
8
 (HPO:0001927) Acanthocytosis 11 / 7739
9
 (HPO:0004447) Poikilocytosis Occasional [HPO:skoehler] 16 / 7739
10
 (HPO:0003593) Infantile onset 249 / 7739
11
 (OMIM) Abnormal platelet maturation 1 / 7739
12
 (OMIM) Macrothrombocytes occasionally noted in carrier female peripheral blood smear 1 / 7739
13
 (HPO:0003828) Variable expressivity 130 / 7739
14
 (OMIM) Platelets have paucity of granules 1 / 7739
15
 (OMIM) Increased number of abnormal megakaryocytes seen on bone marrow biopsy 1 / 7739
16
 (HPO:0001419) X-linked recessive inheritance 189 / 7739
17
 (OMIM) Impaired platelet function 1 / 7739
18
 (OMIM) Platelets had abnormal membrane complexes 1 / 7739
19
 (OMIM) Macrothrombocytes 1 / 7739
20
 (OMIM) Abnormal RBC morphology (anisocytosis, poikilocytes, acanthocytes) (in some patients) 1 / 7739
21
 (OMIM) Elevated thrombopoietin (TPO) 1 / 7739
22
 (OMIM) Platelets have increased smooth endoplasmic reticulum 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) XLTDA is an X-linked recessive hematologic disorder characterized by thrombocytopenia and abnormal platelet morphology and function due to defective platelet maturation. Some patients have a variable severity of dyserythropoietic anemia (summary by Millikan et al., 2011).
Clinical Description OMIM Nichols et al. (2000) described a woman with mild chronic thrombocytopenia who had 2 pregnancies complicated by severe fetal anemia requiring in utero red blood cell transfusions. The offspring were male half-sibs who were anemic and severely thrombocytopenic ...
Genotype-Phenotype Correlations OMIM Compared to XLT individuals with the D218G mutation who did not have anemia (Freson et al., 2001), Freson et al. (2002) found that those with the D218Y mutation who had anemia had more disturbed platelet and erythrocyte morphology ...
Molecular genetics OMIM In 2 male half-sibs with X-linked congenital thrombocytopenia with dyserythropoietic anemia, Nichols et al. (2000) identified a hemizygous mutation in the GATA1 gene (V205M; 305371.0001). The mother, who had mild chronic thrombocytopenia and mild anemia, was heterozygous for ...