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 56 13 71
Xdat 58 73
X-Linked Congenital Dyserythropoietic Anemia with Thrombocytopenia 58
Thrombocytopenia, X-Linked, Without Dyserythropoietic Anemia 6
Thrombocytopenia with Congenital Dyserythropoietic Anemia 58
Congenital Dyserythropoietic Anemia with Thombocytopenia 58
X-Linked Dyserythropoietic Anemia and Thrombocytopenia 73
Xltda 56

Characteristics:

Orphanet epidemiological data:

58
thrombocytopenia with congenital dyserythropoietic anemia
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: any age;

OMIM:

56
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:

Orphanet: 58  
Rare haematological diseases


External Ids:

OMIM 56 300367
ICD10 via Orphanet 33 D69.4
UMLS via Orphanet 72 C1845837
Orphanet 58 ORPHA67044
UMLS 71 C3550789

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

OMIM : 56 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 : 73 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:

58 31 (show all 15)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cryptorchidism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000028
2 hypochromic anemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001931
3 abnormality of multiple cell lineages in the bone marrow 58 31 hallmark (90%) Very frequent (99-80%) HP:0012145
4 macrothrombocytopenia 58 31 hallmark (90%) Very frequent (99-80%) HP:0040185
5 abnormal megakaryocyte morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0012143
6 abnormal lactate dehydrogenase activity 58 31 hallmark (90%) Very frequent (99-80%) HP:0045040
7 poikilocytosis 58 31 occasional (7.5%) Very frequent (99-80%) HP:0004447
8 anisocytosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0011273
9 anemia of inadequate production 58 31 Very frequent (99-80%) HP:0010972
10 epistaxis 31 HP:0000421
11 bruising susceptibility 31 HP:0000978
12 petechiae 31 HP:0000967
13 persistent bleeding after trauma 31 HP:0001934
14 acanthocytosis 31 HP:0001927
15 congenital thrombocytopenia 31 HP:0001905

Symptoms via clinical synopsis from OMIM:

56
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:

40
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. 56 6
11675338 2001
2
Platelet characteristics in patients with X-linked macrothrombocytopenia because of a novel GATA1 mutation. 56 6
11418466 2001
3
Inherited thrombocytopenia due to GATA-1 mutations. 56
22102271 2011
4
GATA1-Related X-Linked Cytopenia 6
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. 56
11809723 2002
6
Familial dyserythropoietic anaemia and thrombocytopenia due to an inherited mutation in GATA1. 56
10700180 2000
7
CoDysAn: A Telemedicine Tool to Improve Awareness and Diagnosis for Patients With Congenital Dyserythropoietic Anemia. 61
31572203 2019
8
GATA transcription factors in hematologic disease. 61
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 20) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GATA1 NM_002049.3(GATA1):c.2T>C (p.Met1Thr)SNV Pathogenic 156265 rs587776451 X:48649518-48649518 X:48791111-48791111
2 GATA1 NM_002049.3(GATA1):c.220G>C (p.Val74Leu)SNV Pathogenic 156266 rs587776452 X:48649736-48649736 X:48791329-48791329
3 GATA1 NM_002049.3(GATA1):c.622G>C (p.Gly208Arg)SNV Pathogenic 156268 rs587776454 X:48650753-48650753 X:48792346-48792346
4 GATA1 NM_002049.3(GATA1):c.994G>T (p.Gly332Cys)SNV Pathogenic 156269 rs587776455 X:48652323-48652323 X:48793916-48793916
5 GATA1 NM_002049.3(GATA1):c.1240T>C (p.Ter414Arg)SNV Pathogenic 156270 rs587776456 X:48652569-48652569 X:48794162-48794162
6 GATA1 NM_002049.3(GATA1):c.613G>A (p.Val205Met)SNV Pathogenic 10423 rs104894815 X:48650744-48650744 X:48792337-48792337
7 GATA1 NM_002049.3(GATA1):c.622_623delinsTC (p.Gly208Ser)indel Pathogenic 10425 rs137852312 X:48650753-48650754 X:48792346-48792347
8 GATA1 NM_002049.3(GATA1):c.652G>T (p.Asp218Tyr)SNV Pathogenic 10427 rs104894808 X:48650783-48650783 X:48792376-48792376
9 GATA1 NM_002049.4(GATA1):c.220+1deldeletion Pathogenic 31942 rs587776453 X:48649736-48649736 X:48791329-48791329
10 GATA1 NM_002049.3(GATA1):c.89C>G (p.Ser30Ter)SNV Pathogenic 465134 rs1557020021 X:48649605-48649605 X:48791198-48791198
11 GATA1 NM_002049.3(GATA1):c.21del (p.Ser8fs)deletion Pathogenic 465133 rs1557020001 X:48649534-48649534 X:48791127-48791127
12 GATA1 NM_002049.3(GATA1):c.94dup (p.Val32fs)duplication Pathogenic 566070 rs1569499310 X:48649606-48649607 X:48791199-48791200
13 GATA1 NM_002049.3(GATA1):c.220+1G>CSNV Likely pathogenic 567419 rs1569499366 X:48649737-48649737 X:48791330-48791330
14 GATA1 NM_002049.3(GATA1):c.653A>G (p.Asp218Gly)SNV Likely pathogenic 10424 rs104894816 X:48650784-48650784 X:48792377-48792377
15 GATA1 NM_002049.3(GATA1):c.94G>A (p.Val32Ile)SNV Conflicting interpretations of pathogenicity 465135 rs782698349 X:48649610-48649610 X:48791203-48791203
16 GATA1 NM_002049.3(GATA1):c.419G>A (p.Arg140Gln)SNV Uncertain significance 533694 rs997764249 X:48650449-48650449 X:48792042-48792042
17 GATA1 NM_002049.3(GATA1):c.480T>G (p.Asn160Lys)SNV Uncertain significance 533695 rs143332634 X:48650510-48650510 X:48792103-48792103
18 GATA1 NM_002049.3(GATA1):c.529G>A (p.Gly177Arg)SNV Uncertain significance 573549 rs1482381233 X:48650559-48650559 X:48792152-48792152
19 GATA1 NM_002049.3(GATA1):c.892C>T (p.Arg298Trp)SNV Uncertain significance 406677 rs1060501251 X:48652221-48652221 X:48793814-48793814
20 GATA1 NM_002049.3(GATA1):c.64G>A (p.Ala22Thr)SNV Benign 533697 rs782188059 X:48649580-48649580 X:48791173-48791173

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

73
# 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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