MCID: THR097
MIFTS: 22

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 53 13 69
Xdat 55 71
X-Linked Congenital Dyserythropoietic Anemia with Thrombocytopenia 55
Thrombocytopenia with Congenital Dyserythropoietic Anemia 55
Congenital Dyserythropoietic Anemia with Thombocytopenia 55
X-Linked Dyserythropoietic Anemia and Thrombocytopenia 71
Xltda 53

Characteristics:

Orphanet epidemiological data:

55
thrombocytopenia with congenital dyserythropoietic anemia
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: any age;

OMIM:

53
Miscellaneous:
onset in infancy
variable severity
persistent bleeding after injury or surgery

Inheritance:
x-linked recessive


HPO:

31
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 53 300367
Orphanet 55 ORPHA67044
UMLS via Orphanet 70 C1845837
ICD10 via Orphanet 33 D69.4
ICD10 32 D69.6
UMLS 69 C3550789

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

OMIM : 53 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, is also known as xdat, and has symptoms including cryptorchidism, abnormal lactate dehydrogenase activity and hypochromic anemia. An important gene associated with Thrombocytopenia, X-Linked, with or Without Dyserythropoietic Anemia is GATA1 (GATA Binding Protein 1). Affiliated tissues include bone, bone marrow and skin.

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...

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

Symptoms via clinical synopsis from OMIM:

53
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:

55 31 (show all 16)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cryptorchidism 55 31 hallmark (90%) Very frequent (99-80%) HP:0000028
2 abnormal lactate dehydrogenase activity 55 31 hallmark (90%) Very frequent (99-80%) HP:0045040
3 hypochromic anemia 55 31 hallmark (90%) Very frequent (99-80%) HP:0001931
4 abnormality of multiple cell lineages in the bone marrow 55 31 hallmark (90%) Very frequent (99-80%) HP:0012145
5 poikilocytosis 55 31 occasional (7.5%) Very frequent (99-80%) HP:0004447
6 anisocytosis 55 31 hallmark (90%) Very frequent (99-80%) HP:0011273
7 anemia of inadequate production 55 31 Very frequent (99-80%) HP:0010972
8 macrothrombocytopenia 55 31 hallmark (90%) Very frequent (99-80%) HP:0040185
9 epistaxis 31 HP:0000421
10 bruising susceptibility 31 HP:0000978
11 petechiae 31 HP:0000967
12 acanthocytosis 31 HP:0001927
13 persistent bleeding after trauma 31 HP:0001934
14 abnormality of cells of the megakaryocyte lineage 55 Very frequent (99-80%)
15 congenital thrombocytopenia 31 HP:0001905
16 abnormal megakaryocyte morphology 31 hallmark (90%) HP:0012143

UMLS symptoms related to Thrombocytopenia, X-Linked, with or Without Dyserythropoietic Anemia:


petechiae of skin

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:

38
Bone, Bone Marrow, Skin

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
# 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 (show all 12)
# 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
11 GATA1 NM_002049.3(GATA1): c.89C> G (p.Ser30Ter) single nucleotide variant Pathogenic GRCh38 Chromosome X, 48791198: 48791198
12 GATA1 NM_002049.3(GATA1): c.21delG (p.Ser8Profs) deletion Pathogenic GRCh38 Chromosome X, 48791130: 48791130

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...

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70 UMLS via Orphanet
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