XLTDA
MCID: THR097
MIFTS: 26

Thrombocytopenia, X-Linked, with or Without Dyserythropoietic Anemia (XLTDA)

Categories: Blood diseases, Genetic 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 72
Xdat 59 74
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 74
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
ICD10 via Orphanet 34 D69.4
UMLS via Orphanet 73 C1845837
Orphanet 59 ORPHA67044
UMLS 72 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, bone marrow and skin, and related phenotypes are cryptorchidism and hypochromic anemia

UniProtKB/Swiss-Prot : 74 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...

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

59 32 (show all 15)
# 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 abnormality of multiple cell lineages in the bone marrow 59 32 hallmark (90%) Very frequent (99-80%) HP:0012145
4 macrothrombocytopenia 59 32 hallmark (90%) Very frequent (99-80%) HP:0040185
5 abnormal megakaryocyte morphology 59 32 hallmark (90%) Very frequent (99-80%) HP:0012143
6 abnormal lactate dehydrogenase activity 59 32 hallmark (90%) Very frequent (99-80%) HP:0045040
7 poikilocytosis 59 32 occasional (7.5%) Very frequent (99-80%) HP:0004447
8 anisocytosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0011273
9 anemia of inadequate production 59 32 Very frequent (99-80%) HP:0010972
10 epistaxis 32 HP:0000421
11 bruising susceptibility 32 HP:0000978
12 petechiae 32 HP:0000967
13 acanthocytosis 32 HP:0001927
14 congenital thrombocytopenia 32 HP:0001905
15 persistent bleeding after trauma 32 HP:0001934

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

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, Bone Marrow, Skin

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

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

# Title Authors PMID Year
1
X-linked thrombocytopenia caused by a novel mutation of GATA-1. 8 71
11675338 2001
2
Platelet characteristics in patients with X-linked macrothrombocytopenia because of a novel GATA1 mutation. 8 71
11418466 2001
3
Inherited thrombocytopenia due to GATA-1 mutations. 8
22102271 2011
4
GATA1-Related X-Linked Cytopenia 71
20301538 2006
5
Different substitutions at residue D218 of the X-linked transcription factor GATA1 lead to altered clinical severity of macrothrombocytopenia and anemia and are associated with variable skewed X inactivation. 8
11809723 2002
6
Familial dyserythropoietic anaemia and thrombocytopenia due to an inherited mutation in GATA1. 8
10700180 2000
7
GATA transcription factors in hematologic disease. 38
16158817 2005

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

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

6 (show all 25)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 GATA1 NM_002049.3(GATA1): c.89C> G (p.Ser30Ter) single nucleotide variant Pathogenic rs1557020021 X:48649605-48649605 X:48791198-48791198
2 GATA1 NM_002049.3(GATA1): c.21del (p.Ser8fs) deletion Pathogenic rs1557020001 X:48649537-48649537 X:48791130-48791130
3 GATA1 NM_002049.3(GATA1): c.2T> C (p.Met1Thr) single nucleotide variant Pathogenic rs587776451 X:48649518-48649518 X:48791111-48791111
4 GATA1 NM_002049.3(GATA1): c.220G> C (p.Val74Leu) single nucleotide variant Pathogenic rs587776452 X:48649736-48649736 X:48791329-48791329
5 GATA1 NM_002049.3(GATA1): c.220+1delG deletion Pathogenic rs587776453 X:48649737-48649737 X:48791330-48791330
6 GATA1 NM_002049.3(GATA1): c.622G> C (p.Gly208Arg) single nucleotide variant Pathogenic rs587776454 X:48650753-48650753 X:48792346-48792346
7 GATA1 NM_002049.3(GATA1): c.994G> T (p.Gly332Cys) single nucleotide variant Pathogenic rs587776455 X:48652323-48652323 X:48793916-48793916
8 GATA1 NM_002049.3(GATA1): c.1240T> C (p.Ter414Arg) single nucleotide variant Pathogenic rs587776456 X:48652569-48652569 X:48794162-48794162
9 GATA1 NM_002049.3(GATA1): c.94dup (p.Val32fs) duplication Pathogenic X:48649610-48649610 X:48791203-48791203
10 GATA1 NM_002049.3(GATA1): c.652G> T (p.Asp218Tyr) single nucleotide variant Pathogenic rs104894808 X:48650783-48650783 X:48792376-48792376
11 GATA1 NM_002049.3(GATA1): c.622_623delinsTC (p.Gly208Ser) indel Pathogenic rs137852312 X:48650753-48650754 X:48792346-48792347
12 GATA1 NM_002049.3(GATA1): c.653A> G (p.Asp218Gly) single nucleotide variant Pathogenic rs104894816 X:48650784-48650784 X:48792377-48792377
13 GATA1 NM_002049.3(GATA1): c.613G> A (p.Val205Met) single nucleotide variant Pathogenic rs104894815 X:48650744-48650744 X:48792337-48792337
14 GATA1 NM_002049.3(GATA1): c.220+1G> C single nucleotide variant Likely pathogenic X:48649737-48649737 X:48791330-48791330
15 GATA1 NM_002049.3(GATA1): c.113C> T (p.Pro38Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs372131208 X:48649629-48649629 X:48791222-48791222
16 GATA1 NM_002049.3(GATA1): c.480T> G (p.Asn160Lys) single nucleotide variant Uncertain significance rs143332634 X:48650510-48650510 X:48792103-48792103
17 GATA1 NM_002049.3(GATA1): c.529G> A (p.Gly177Arg) single nucleotide variant Uncertain significance X:48650559-48650559 X:48792152-48792152
18 GATA1 NM_002049.3(GATA1): c.242T> C (p.Leu81Pro) single nucleotide variant Uncertain significance rs1557020166 X:48650272-48650272 X:48791865-48791865
19 GATA1 NM_002049.3(GATA1): c.419G> A (p.Arg140Gln) single nucleotide variant Uncertain significance rs997764249 X:48650449-48650449 X:48792042-48792042
20 GATA1 NM_002049.3(GATA1): c.94G> A (p.Val32Ile) single nucleotide variant Uncertain significance rs782698349 X:48649610-48649610 X:48791203-48791203
21 GATA1 NM_002049.3(GATA1): c.479A> G (p.Asn160Ser) single nucleotide variant Uncertain significance rs59609788 X:48650509-48650509 X:48792102-48792102
22 GATA1 NM_002049.3(GATA1): c.892C> T (p.Arg298Trp) single nucleotide variant Uncertain significance rs1060501251 X:48652221-48652221 X:48793814-48793814
23 GATA1 NM_002049.3(GATA1): c.64G> A (p.Ala22Thr) single nucleotide variant Benign rs782188059 X:48649580-48649580 X:48791173-48791173
24 GATA1 NM_002049.3(GATA1): c.212A> G (p.His71Arg) single nucleotide variant Benign rs374300356 X:48649728-48649728 X:48791321-48791321
25 GATA1 NM_002049.3(GATA1): c.163G> A (p.Ala55Thr) single nucleotide variant Benign rs150572851 X:48649679-48649679 X:48791272-48791272

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

74
# 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

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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