XLT
MCID: XLN068
MIFTS: 52

X-Linked Thrombocytopenia (XLT) malady

Genetic diseases, Rare diseases, Blood diseases categories

Summaries for X-Linked Thrombocytopenia

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22Genetics Home Reference, 48OMIM, 34MalaCards
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Genetics Home Reference:22 X-linked thrombocytopenia is a bleeding disorder that primarily affects males. This condition is characterized by a blood cell abnormality called thrombocytopenia, which is a shortage in the number of cells involved in clotting (platelets). Affected individuals often have abnormally small platelets as well, a condition called microthrombocytopenia. X-linked thrombocytopenia can cause individuals to bruise easily or have episodes of prolonged bleeding following minor trauma or even in the absence of injury (spontaneous bleeding). Some people with this condition experience spontaneous bleeding in the brain (cerebral hemorrhage), which can cause brain damage that can be life-threatening.

MalaCards: X-Linked Thrombocytopenia, also known as thrombocytopenia, x-linked, is related to thrombocytopenia and wiskott-aldrich syndrome. An important gene associated with X-Linked Thrombocytopenia is WAS (Wiskott-Aldrich syndrome), and among its related pathways are Factors involved in megakaryocyte development and platelet production and C-MYB transcription factor network. The compounds cytidine and vitamin d have been mentioned in the context of this disorder. Affiliated tissues include bone marrow and bone, and related mouse phenotypes are homeostasis/metabolism and cellular.

Description from OMIM:48 273900,313900,188000,612004

Aliases & Classifications for X-Linked Thrombocytopenia

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44NIH Rare Diseases, 22Genetics Home Reference, 46Novoseek, 63UMLS, 21GeneTests, 23GTR, 48OMIM, 50Orphanet, 27ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Blood diseases


Characteristics (Orphanet epidemiological data):

50
hereditary thrombocytopenia with normal platelets:
Inheritance: Autosomal dominant,Autosomal recessive,X-linked recessive; Age of onset: Variable


Aliases & Descriptions:

x-linked thrombocytopenia 44 22
thrombocytopenia, x-linked 44 21 23 48
thrombocytopenia 1 44 22 46 63
hereditary thrombocytopenia with normal platelets 50 48
x-linked thrombocytopenia with normal platelets 44 50
xlt 44 22
thc1 44


External Ids:

ICD10 via Orphanet27 D69.4

Related Diseases for X-Linked Thrombocytopenia

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18GeneCards, 19GeneDecks
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Graphical network of diseases related to X-Linked Thrombocytopenia:



Diseases related to x-linked thrombocytopenia

Symptoms for X-Linked Thrombocytopenia

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48OMIM
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Symptoms by clinical synopsis from OMIM:

273900

Clinical features from OMIM:

273900,313900,188000,612004

Drugs & Therapeutics for X-Linked Thrombocytopenia

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

Search CenterWatch for X-Linked Thrombocytopenia

Drug clinical trials:

Search ClinicalTrials for X-Linked Thrombocytopenia

Search NIH Clinical Center for X-Linked Thrombocytopenia

Search CenterWatch for X-Linked Thrombocytopenia

Genetic Tests for X-Linked Thrombocytopenia

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21GeneTests, 23GTR
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Genetic tests related to X-Linked Thrombocytopenia:

id Genetic test Affiliating Genes
1 X-Linked Thrombocytopenia21
2 Thrombocytopenia, X-Linked23

Anatomical Context for X-Linked Thrombocytopenia

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34MalaCards
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MalaCards organs/tissues related to X-Linked Thrombocytopenia:

34
Bone marrow, Bone

Animal Models for X-Linked Thrombocytopenia or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to X-Linked Thrombocytopenia:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053768.2CD79A, GATA1, WAS, ZFPM1
2MP:00053847.9ZFPM1, WAS, GATA1, CD79A
3MP:00053977.5CD79A, GATA1, WAS, ZFPM1, WIPF1
4MP:00053877.4WIPF1, ZFPM1, WAS, GATA1, CD79A

Publications for X-Linked Thrombocytopenia

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53PubMed
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Articles related to X-Linked Thrombocytopenia:

(show all 37)
idTitleAuthorsYear
1
Allogeneic Bone Marrow Transplantation Appears to Ameliorate IgA Nephropathy in a Patient with X-linked Thrombocytopenia. (24217816)
2013
2
Aberrant glycosylation of IgA in Wiskott-Aldrich syndrome and X-linked thrombocytopenia. (23107152)
2013
3
X-linked thrombocytopenia in a female with a complex familial pattern of X-chromosome inactivation. (23689198)
2013
4
Intermittent X-linked thrombocytopenia with a novel WAS gene mutation. (24115682)
2013
5
A case of familial X-linked thrombocytopenia with a novel WAS gene mutation. (23807894)
2013
6
IVS6+5G>A found in Wiskott-Aldrich syndrome and X-linked thrombocytopenia in a Korean family. (22038941)
2012
7
Successful handling of autoimmunity in X-linked thrombocytopenia (XLT) using mycophenolate mofetil. (22692965)
2012
8
Monozygotic twin pair showing discordant phenotype for X-linked thrombocytopenia and Wiskott-Aldrich syndrome: a role for epigenetics? (21710275)
2011
9
Hematopoietic stem cell transplantation for X-linked thrombocytopenia from a mild symptomatic carrier. (19684625)
2010
10
X-linked thrombocytopenia (XLT) due to WAS mutations: clinical characteristics, long-term outcome, and treatment options. (20173115)
2010
11
Clinical aspects and genetic analysis of taiwanese patients with wiskott-Aldrich syndrome protein mutation: the first identification of x-linked thrombocytopenia in the chinese with novel mutations. (20232122)
2010
12
Atypical lymphoproliferative disorder in a patient with X-linked thrombocytopenia. (18523994)
2008
13
Detection of 28 novel mutations in the Wiskott-Aldrich syndrome and X-linked thrombocytopenia based on multiplex PCR. (17400488)
2007
14
Why the disorder induced by GATA1 Arg216Gln mutation should be called "X-linked thrombocytopenia with thalassemia" rather than "X-linked gray platelet syndrome". (17881640)
2007
15
Identification of WASP mutations in 10 Australian families with Wiskott-Aldrich syndrome and X-linked thrombocytopenia. (15203732)
2004
16
IgA nephropathy associated with X-linked thrombocytopenia. (14981635)
2004
17
Transgenic rescue of GATA-1-deficient mice with GATA-1 lacking a FOG-1 association site phenocopies patients with X-linked thrombocytopenia. (14656885)
2004
18
X-linked thrombocytopenia caused by a mutation in the Wiskott-Aldrich syndrome (WAS) gene that disrupts interaction with the WAS protein (WASP)-interacting protein (WIP). (12591280)
2003
19
Macrophages of patients with X-linked thrombocytopenia display an attenuated Wiskott-Aldrich syndrome phenotype. (12631236)
2003
20
X-linked thrombocytopenia in a girl. (12199801)
2002
21
X-linked thrombocytopenia with thalassemia from a mutation in the amino finger of GATA-1 affecting DNA binding rather than FOG-1 interaction. (12200364)
2002
22
Missense mutations of the WASP gene cause intermittent X-linked thrombocytopenia. (11877312)
2002
23
X-linked thrombocytopenia caused by a novel mutation of GATA-1. (11675338)
2001
24
Protein assays for diagnosis of Wiskott-Aldrich syndrome and X-linked thrombocytopenia. (11442475)
2001
25
Missense C168T in the Wiskott-Aldrich Syndrome protein gene is a common mutation in X-linked thrombocytopenia. (11167787)
2001
26
X-linked thrombocytopenia identified by flow cytometric demonstration of defective Wiskott-Aldrich syndrome protein in lymphocytes. (10691337)
2000
27
Mutations of the WASP gene in 10 Japanese patients with Wiskott-Aldrich syndrome and X-linked thrombocytopenia. (10729999)
2000
28
Mapping of a syndrome of X-linked thrombocytopenia with Thalassemia to band Xp11-12: further evidence of genetic heterogeneity of X-linked thrombocytopenia. (10733494)
2000
29
Unique and recurrent WAS gene mutations in Wiskott-Aldrich syndrome and X-linked thrombocytopenia. (10575547)
1999
30
Wiskott-Aldrich syndrome/X-linked thrombocytopenia: WASP gene mutations, protein expression, and phenotype. (9326235)
1997
31
Isolated X-linked thrombocytopenia in two unrelated families is associated with point mutations in the Wiskott-Aldrich syndrome protein gene. (8757563)
1996
32
Mutation spectrum in patients with Wiskott-Aldrich syndrome and X-linked thrombocytopenia: identification of twelve different mutations in the WASP gene. (8743175)
1996
33
WASP gene mutations in Wiskott-Aldrich syndrome and X-linked thrombocytopenia. (8528199)
1995
34
X-linked thrombocytopenia and Wiskott-Aldrich syndrome are allelic diseases with mutations in the WASP gene. (7795648)
1995
35
X-linked thrombocytopenia and thrombocytopathia: attenuated Wiskott-Aldrich syndrome. Functional and morphological studies of platelets and lymphocytes. (2048054)
1991
36
X-linked thrombocytopenia and Wiskott-Aldrich syndrome: similar regional assignment but distinct X-inactivation pattern in carriers. (1912030)
1991
37
Hereditary X-linked thrombocytopenia maps to the same chromosomal region as the Wiskott-Aldrich syndrome. (2904289)
1988

Variations for X-Linked Thrombocytopenia

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65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for X-Linked Thrombocytopenia:

65
id Symbol AA change Variation ID SNP ID
1WASp.Leu27PheVAR_005823
2WASp.Thr48IleVAR_005826
3WASp.Ala56ValVAR_005827
4WASp.Val75MetVAR_005828
5WASp.Ala236GluVAR_005837
6WASp.Arg477LysVAR_005839
7WASp.Thr45MetVAR_008106
8WASp.Tyr83CysVAR_008108
9WASp.Pro58ArgVAR_033255rs28935178
10WASp.Ile481AsnVAR_033257

Clinvar genetic disease variations for X-Linked Thrombocytopenia:

1
id Gene Name Type Significance SNP ID Assembly Location
1WASNM_000377.2(WAS): c.167C> T (p.Ala56Val)single nucleotide variantPathogenicrs132630269GRCh37Chr X, 48542706: 48542706
2WASNM_000377.2(WAS): c.707C> G (p.Ala236Gly)single nucleotide variantPathogenicrs132630270GRCh37Chr X, 48545317: 48545317
3WASWAS, 1-BP INS, 512CinsertionPathogenic
4WASNM_000377.2(WAS): c.134C> T (p.Thr45Met)single nucleotide variantPathogenicrs132630273GRCh37Chr X, 48542673: 48542673
5WASWAS, IVS6DS, G-A, +5single nucleotide variantPathogenic

Expression for genes affiliated with X-Linked Thrombocytopenia

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with X-Linked Thrombocytopenia

Search GEO for disease gene expression data for X-Linked Thrombocytopenia.

Pathways for genes affiliated with X-Linked Thrombocytopenia

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51PathCards, 56Reactome, 39NCBI BioSystems Database, 61Thomson Reuters, 31KEGG, 5Cell Signaling Technology, 55R&D Systems
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Pathways related to X-Linked Thrombocytopenia according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.4GATA1, ZFPM1
29.4GATA1, ZFPM1
39.4GATA1, ZFPM1
4
Show member pathways
Immune response CD16 signaling in NK cells61
9.4WAS, WIPF1
5
Show member pathways
9.4WAS, WIPF1
6
Show member pathways
BCR signaling pathway39
TCR Signaling Pathway39
9.2CD79A, WAS
79.2WAS, CD79A
89.1CD79A, GATA1
9
Show member pathways
Immune response BCR pathway61
Fc-epsilon receptor I signaling in mast cells39
9.0CD79A, WIPF1

Compounds for genes affiliated with X-Linked Thrombocytopenia

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46Novoseek, 25HMDB, 12DrugBank, 3BitterDB, 52PharmGKB
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Compounds related to X-Linked Thrombocytopenia according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1cytidine46 25 1211.1CD79A, GATA1
2vitamin d469.1CD79A, GATA1
3azathioprine46 3 52 1212.0CD79A, GATA1
4folate468.8CD79A, GATA1

GO Terms for genes affiliated with X-Linked Thrombocytopenia

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17Gene Ontology
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Cellular components related to X-Linked Thrombocytopenia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1transcription factor complexGO:0056679.4GATA1, ZFPM1
2transcriptional repressor complexGO:0170539.3GATA1, ZFPM1
3actin cytoskeletonGO:0156299.1WAS, WIPF1

Biological processes related to X-Linked Thrombocytopenia according to GeneCards/GeneDecks:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1transcriptional activation by promoter-enhancer loopingGO:0717339.7GATA1, ZFPM1
2regulation of definitive erythrocyte differentiationGO:0107249.7GATA1, ZFPM1
3megakaryocyte differentiationGO:0302199.6ZFPM1, GATA1
4platelet formationGO:0302209.6GATA1, ZFPM1
5actin polymerization or depolymerizationGO:0081549.6WAS, WIPF1
6actin filament-based movementGO:0300489.5WIPF1, WAS
7embryonic hemopoiesisGO:0351629.5GATA1, ZFPM1
8erythrocyte differentiationGO:0302189.4GATA1, ZFPM1
9protein complex assemblyGO:0064619.4WAS, WIPF1
10Fc-gamma receptor signaling pathway involved in phagocytosisGO:0380969.1WAS, WIPF1
11blood coagulationGO:0075968.9ZFPM1, WAS, GATA1

Molecular functions related to X-Linked Thrombocytopenia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1actin bindingGO:0037799.4WAS, WIPF1
2RNA polymerase II transcription factor bindingGO:0010859.3GATA1, ZFPM1
3RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcriptionGO:0010789.1GATA1, ZFPM1

Products for genes affiliated with X-Linked Thrombocytopenia

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for X-Linked Thrombocytopenia

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet