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 57 13 73
Xdat 59 75
X-Linked Congenital Dyserythropoietic Anemia with Thrombocytopenia 59
Thrombocytopenia, X-Linked, Without Dyserythropoietic Anemia 6
Thrombocytopenia with Congenital Dyserythropoietic Anemia 59
Congenital Dyserythropoietic Anemia with Thombocytopenia 59
X-Linked Dyserythropoietic Anemia and Thrombocytopenia 75
Xltda 57

Characteristics:

Orphanet epidemiological data:

59
thrombocytopenia with congenital dyserythropoietic anemia
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: any age;

OMIM:

57
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 57 300367
Orphanet 59 ORPHA67044
UMLS via Orphanet 74 C1845837
ICD10 via Orphanet 34 D69.4
ICD10 33 D69.6
UMLS 73 C3550789

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

OMIM : 57 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 petechiae of skin An important gene associated with Thrombocytopenia, X-Linked, with or Without Dyserythropoietic Anemia is GATA1 (GATA Binding Protein 1). Affiliated tissues include bone marrow, bone and skin, and related phenotypes are cryptorchidism and hypochromic anemia

UniProtKB/Swiss-Prot : 75 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:

57
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:

59 32 (show all 16)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cryptorchidism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000028
2 hypochromic anemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001931
3 poikilocytosis 59 32 occasional (7.5%) Very frequent (99-80%) HP:0004447
4 anemia of inadequate production 59 32 Very frequent (99-80%) HP:0010972
5 anisocytosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0011273
6 abnormality of multiple cell lineages in the bone marrow 59 32 hallmark (90%) Very frequent (99-80%) HP:0012145
7 macrothrombocytopenia 59 32 hallmark (90%) Very frequent (99-80%) HP:0040185
8 abnormal lactate dehydrogenase activity 59 32 hallmark (90%) Very frequent (99-80%) HP:0045040
9 abnormality of cells of the megakaryocyte lineage 59 Very frequent (99-80%)
10 epistaxis 32 HP:0000421
11 petechiae 32 HP:0000967
12 bruising susceptibility 32 HP:0000978
13 congenital thrombocytopenia 32 HP:0001905
14 acanthocytosis 32 HP:0001927
15 persistent bleeding after trauma 32 HP:0001934
16 abnormal megakaryocyte morphology 32 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:

41
Bone Marrow, Bone, 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:

75
# 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 42)
# 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.613G> A (p.Val205Met) single nucleotide variant Pathogenic rs104894815 GRCh38 Chromosome X, 48792337: 48792337
3 GATA1 NM_002049.3(GATA1): c.653A> G (p.Asp218Gly) single nucleotide variant Pathogenic rs104894816 GRCh37 Chromosome X, 48650784: 48650784
4 GATA1 NM_002049.3(GATA1): c.653A> G (p.Asp218Gly) single nucleotide variant Pathogenic rs104894816 GRCh38 Chromosome X, 48792377: 48792377
5 GATA1 NM_002049.3(GATA1): c.622_623delGGinsTC (p.Gly208Ser) indel Pathogenic rs137852312 GRCh37 Chromosome X, 48650753: 48650754
6 GATA1 NM_002049.3(GATA1): c.622_623delGGinsTC (p.Gly208Ser) indel Pathogenic rs137852312 GRCh38 Chromosome X, 48792346: 48792347
7 GATA1 NM_002049.3(GATA1): c.652G> T (p.Asp218Tyr) single nucleotide variant Pathogenic rs104894808 GRCh37 Chromosome X, 48650783: 48650783
8 GATA1 NM_002049.3(GATA1): c.652G> T (p.Asp218Tyr) single nucleotide variant Pathogenic rs104894808 GRCh38 Chromosome X, 48792376: 48792376
9 GATA1 NM_002049.3(GATA1): c.2T> C (p.Met1Thr) single nucleotide variant Pathogenic rs587776451 GRCh37 Chromosome X, 48649518: 48649518
10 GATA1 NM_002049.3(GATA1): c.2T> C (p.Met1Thr) single nucleotide variant Pathogenic rs587776451 GRCh38 Chromosome X, 48791111: 48791111
11 GATA1 NM_002049.3(GATA1): c.220G> C (p.Val74Leu) single nucleotide variant Pathogenic rs587776452 GRCh37 Chromosome X, 48649736: 48649736
12 GATA1 NM_002049.3(GATA1): c.220G> C (p.Val74Leu) single nucleotide variant Pathogenic rs587776452 GRCh38 Chromosome X, 48791329: 48791329
13 GATA1 NM_002049.3(GATA1): c.220+1delG deletion Pathogenic rs587776453 GRCh38 Chromosome X, 48791330: 48791330
14 GATA1 NM_002049.3(GATA1): c.220+1delG deletion Pathogenic rs587776453 GRCh37 Chromosome X, 48649737: 48649737
15 GATA1 NM_002049.3(GATA1): c.622G> C (p.Gly208Arg) single nucleotide variant Pathogenic rs587776454 GRCh37 Chromosome X, 48650753: 48650753
16 GATA1 NM_002049.3(GATA1): c.622G> C (p.Gly208Arg) single nucleotide variant Pathogenic rs587776454 GRCh38 Chromosome X, 48792346: 48792346
17 GATA1 NM_002049.3(GATA1): c.994G> T (p.Gly332Cys) single nucleotide variant Pathogenic rs587776455 GRCh38 Chromosome X, 48793916: 48793916
18 GATA1 NM_002049.3(GATA1): c.994G> T (p.Gly332Cys) single nucleotide variant Pathogenic rs587776455 GRCh37 Chromosome X, 48652323: 48652323
19 GATA1 NM_002049.3(GATA1): c.1240T> C (p.Ter414Arg) single nucleotide variant Pathogenic rs587776456 GRCh37 Chromosome X, 48652569: 48652569
20 GATA1 NM_002049.3(GATA1): c.1240T> C (p.Ter414Arg) single nucleotide variant Pathogenic rs587776456 GRCh38 Chromosome X, 48794162: 48794162
21 GATA1 NM_002049.3(GATA1): c.479A> G (p.Asn160Ser) single nucleotide variant Uncertain significance rs59609788 GRCh37 Chromosome X, 48650509: 48650509
22 GATA1 NM_002049.3(GATA1): c.479A> G (p.Asn160Ser) single nucleotide variant Uncertain significance rs59609788 GRCh38 Chromosome X, 48792102: 48792102
23 GATA1 NM_002049.3(GATA1): c.892C> T (p.Arg298Trp) single nucleotide variant Uncertain significance rs1060501251 GRCh37 Chromosome X, 48652221: 48652221
24 GATA1 NM_002049.3(GATA1): c.892C> T (p.Arg298Trp) single nucleotide variant Uncertain significance rs1060501251 GRCh38 Chromosome X, 48793814: 48793814
25 GATA1 NM_002049.3(GATA1): c.113C> T (p.Pro38Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs372131208 GRCh38 Chromosome X, 48791222: 48791222
26 GATA1 NM_002049.3(GATA1): c.113C> T (p.Pro38Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs372131208 GRCh37 Chromosome X, 48649629: 48649629
27 GATA1 NM_002049.3(GATA1): c.89C> G (p.Ser30Ter) single nucleotide variant Pathogenic GRCh38 Chromosome X, 48791198: 48791198
28 GATA1 NM_002049.3(GATA1): c.89C> G (p.Ser30Ter) single nucleotide variant Pathogenic GRCh37 Chromosome X, 48649605: 48649605
29 GATA1 NM_002049.3(GATA1): c.94G> A (p.Val32Ile) single nucleotide variant Uncertain significance rs782698349 GRCh38 Chromosome X, 48791203: 48791203
30 GATA1 NM_002049.3(GATA1): c.94G> A (p.Val32Ile) single nucleotide variant Uncertain significance rs782698349 GRCh37 Chromosome X, 48649610: 48649610
31 GATA1 NM_002049.3(GATA1): c.21delG (p.Ser8Profs) deletion Pathogenic GRCh38 Chromosome X, 48791130: 48791130
32 GATA1 NM_002049.3(GATA1): c.21delG (p.Ser8Profs) deletion Pathogenic GRCh37 Chromosome X, 48649537: 48649537
33 GATA1 NM_002049.3(GATA1): c.212A> G (p.His71Arg) single nucleotide variant Benign rs374300356 GRCh38 Chromosome X, 48791321: 48791321
34 GATA1 NM_002049.3(GATA1): c.212A> G (p.His71Arg) single nucleotide variant Benign rs374300356 GRCh37 Chromosome X, 48649728: 48649728
35 GATA1 NM_002049.3(GATA1): c.242T> C (p.Leu81Pro) single nucleotide variant Uncertain significance GRCh38 Chromosome X, 48791865: 48791865
36 GATA1 NM_002049.3(GATA1): c.242T> C (p.Leu81Pro) single nucleotide variant Uncertain significance GRCh37 Chromosome X, 48650272: 48650272
37 GATA1 NM_002049.3(GATA1): c.419G> A (p.Arg140Gln) single nucleotide variant Uncertain significance rs997764249 GRCh38 Chromosome X, 48792042: 48792042
38 GATA1 NM_002049.3(GATA1): c.419G> A (p.Arg140Gln) single nucleotide variant Uncertain significance rs997764249 GRCh37 Chromosome X, 48650449: 48650449
39 GATA1 NM_002049.3(GATA1): c.64G> A (p.Ala22Thr) single nucleotide variant Benign rs782188059 GRCh37 Chromosome X, 48649580: 48649580
40 GATA1 NM_002049.3(GATA1): c.64G> A (p.Ala22Thr) single nucleotide variant Benign rs782188059 GRCh38 Chromosome X, 48791173: 48791173
41 GATA1 NM_002049.3(GATA1): c.480T> G (p.Asn160Lys) single nucleotide variant Uncertain significance rs143332634 GRCh38 Chromosome X, 48792103: 48792103
42 GATA1 NM_002049.3(GATA1): c.480T> G (p.Asn160Lys) single nucleotide variant Uncertain significance rs143332634 GRCh37 Chromosome X, 48650510: 48650510

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

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

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

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