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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48OMIM, 34MalaCards
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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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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
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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