MCID: THR097
MIFTS: 20

Thrombocytopenia, X-Linked, with or Without Dyserythropoietic Anemia

Categories: Genetic diseases, Immune diseases, Blood diseases, Rare diseases

Aliases & Classifications for Thrombocytopenia, X-Linked, with or Without Dyserythropoietic...

MalaCards integrated aliases for Thrombocytopenia, X-Linked, with or Without Dyserythropoietic Anemia:

Name: Thrombocytopenia, X-Linked, with or Without Dyserythropoietic Anemia 54 13
Xdat 56 71
X-Linked Congenital Dyserythropoietic Anemia with Thrombocytopenia 56
Thrombocytopenia with Congenital Dyserythropoietic Anemia 56
Congenital Dyserythropoietic Anemia with Thombocytopenia 56
X-Linked Dyserythropoietic Anemia and Thrombocytopenia 71

Characteristics:

Orphanet epidemiological data:

56
thrombocytopenia with congenital dyserythropoietic anemia
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: any age;

OMIM:

54
Miscellaneous:
onset in infancy
variable severity
persistent bleeding after injury or surgery

Inheritance:
x-linked recessive


HPO:

32
thrombocytopenia, x-linked, with or without dyserythropoietic anemia:
Onset and clinical course variable expressivity infantile onset
Inheritance x-linked recessive inheritance


Classifications:



External Ids:

OMIM 54 300367
Orphanet 56 ORPHA67044
UMLS via Orphanet 70 C1845837
ICD10 via Orphanet 34 D69.4
ICD10 33 D69.6

Summaries for Thrombocytopenia, X-Linked, with or Without Dyserythropoietic...

OMIM : 54
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). (300367)

MalaCards based summary : Thrombocytopenia, X-Linked, with or Without Dyserythropoietic Anemia, also known as xdat, is related to thrombocytopenia with or without dyserythropoietic anemia, and has symptoms including epistaxis, petechiae and poikilocytosis. An important gene associated with Thrombocytopenia, X-Linked, with or Without Dyserythropoietic Anemia is GATA1 (GATA Binding Protein 1). Affiliated tissues include bone and bone marrow.

UniProtKB/Swiss-Prot : 71 X-linked dyserythropoietic anemia and thrombocytopenia: Disorder characterized by erythrocytes with abnormal size and shape, and paucity of platelets in peripheral blood. The bone marrow contains abundant and abnormally small megakaryocytes.

Related Diseases for Thrombocytopenia, X-Linked, with or Without Dyserythropoietic...

Diseases related to Thrombocytopenia, X-Linked, with or Without Dyserythropoietic Anemia via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 thrombocytopenia with or without dyserythropoietic anemia 11.4

Symptoms & Phenotypes for Thrombocytopenia, X-Linked, with or Without Dyserythropoietic...

Symptoms via clinical synopsis from OMIM:

54

Hematology:
thrombocytopenia
macrothrombocytes
platelets have paucity of granules
platelets had abnormal membrane complexes
platelets have increased smooth endoplasmic reticulum
more
Skin Nails & Hair- Skin:
petechiae
easy bruisability

Head And Neck- Nose:
epistaxis


Clinical features from OMIM:

300367

Human phenotypes related to Thrombocytopenia, X-Linked, with or Without Dyserythropoietic Anemia:

32 (show all 8)
id Description HPO Frequency HPO Source Accession
1 epistaxis 32 HP:0000421
2 petechiae 32 HP:0000967
3 poikilocytosis 32 occasional (7.5%) HP:0004447
4 acanthocytosis 32 HP:0001927
5 congenital thrombocytopenia 32 HP:0001905
6 persistent bleeding after trauma 32 HP:0001934
7 bruising susceptibility 32 HP:0000978
8 anemia of inadequate production 32 HP:0010972

Drugs & Therapeutics for Thrombocytopenia, X-Linked, with or Without Dyserythropoietic...

Search Clinical Trials , NIH Clinical Center for Thrombocytopenia, X-Linked, with or Without Dyserythropoietic Anemia

Genetic Tests for Thrombocytopenia, X-Linked, with or Without Dyserythropoietic...

Anatomical Context for Thrombocytopenia, X-Linked, with or Without Dyserythropoietic...

MalaCards organs/tissues related to Thrombocytopenia, X-Linked, with or Without Dyserythropoietic Anemia:

39
Bone, Bone Marrow

Publications for Thrombocytopenia, X-Linked, with or Without Dyserythropoietic...

Variations for Thrombocytopenia, X-Linked, with or Without Dyserythropoietic...

UniProtKB/Swiss-Prot genetic disease variations for Thrombocytopenia, X-Linked, with or Without Dyserythropoietic Anemia:

71
id Symbol AA change Variation ID SNP ID
1 GATA1 p.Val205Met VAR_010115 rs104894815
2 GATA1 p.Gly208Ser VAR_012706 rs137852312
3 GATA1 p.Asp218Gly VAR_012707 rs104894816
4 GATA1 p.Asp218Tyr VAR_033115 rs104894808

ClinVar genetic disease variations for Thrombocytopenia, X-Linked, with or Without Dyserythropoietic Anemia:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 GATA1 NM_002049.3(GATA1): c.613G> A (p.Val205Met) single nucleotide variant Pathogenic rs104894815 GRCh37 Chromosome X, 48650744: 48650744
2 GATA1 NM_002049.3(GATA1): c.653A> G (p.Asp218Gly) single nucleotide variant Pathogenic rs104894816 GRCh37 Chromosome X, 48650784: 48650784
3 GATA1 NM_002049.3(GATA1): c.622_623delGGinsTC (p.Gly208Ser) indel Pathogenic rs137852312 GRCh37 Chromosome X, 48650753: 48650754
4 GATA1 NM_002049.3(GATA1): c.652G> T (p.Asp218Tyr) single nucleotide variant Pathogenic rs104894808 GRCh37 Chromosome X, 48650783: 48650783
5 GATA1 NM_002049.3(GATA1): c.2T> C (p.Met1Thr) single nucleotide variant Pathogenic rs587776451 GRCh37 Chromosome X, 48649518: 48649518
6 GATA1 NM_002049.3(GATA1): c.220G> C (p.Val74Leu) single nucleotide variant Pathogenic rs587776452 GRCh37 Chromosome X, 48649736: 48649736
7 GATA1 NM_002049.3(GATA1): c.220+1delG deletion Pathogenic rs587776453 GRCh38 Chromosome X, 48791330: 48791330
8 GATA1 NM_002049.3(GATA1): c.622G> C (p.Gly208Arg) single nucleotide variant Pathogenic rs587776454 GRCh37 Chromosome X, 48650753: 48650753
9 GATA1 NM_002049.3(GATA1): c.994G> T (p.Gly332Cys) single nucleotide variant Pathogenic rs587776455 GRCh38 Chromosome X, 48793916: 48793916
10 GATA1 NM_002049.3(GATA1): c.1240T> C (p.Ter414Arg) single nucleotide variant Pathogenic rs587776456 GRCh37 Chromosome X, 48652569: 48652569

Expression for Thrombocytopenia, X-Linked, with or Without Dyserythropoietic...

Search GEO for disease gene expression data for Thrombocytopenia, X-Linked, with or Without Dyserythropoietic Anemia.

Pathways for Thrombocytopenia, X-Linked, with or Without Dyserythropoietic...

GO Terms for Thrombocytopenia, X-Linked, with or Without Dyserythropoietic...

Sources for Thrombocytopenia, X-Linked, with or Without Dyserythropoietic...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
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40 MedGen
42 MeSH
43 MESH via Orphanet
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48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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