XLT
MCID: XLN068
MIFTS: 48

X-Linked Thrombocytopenia (XLT) malady

Blood diseases category

Summaries for X-Linked Thrombocytopenia

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21Genetics Home Reference, 46OMIM, 32MalaCards
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Genetics Home Reference:21 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 C-MYB transcription factor network and Factors involved in megakaryocyte development and platelet production. The compounds folate and cytidine have been mentioned in the context of this disorder. Affiliated tissues include brain, and related mouse phenotypes are cellular and hematopoietic system.

Description from OMIM:46 273900,313900,188000,612004

Aliases & Classifications for X-Linked Thrombocytopenia

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Sources:
42NIH Rare Diseases, 21Genetics Home Reference, 44Novoseek, 60UMLS, 20GeneTests, 22GTR, 46OMIM, 48Orphanet, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Blood diseases


Characteristics (Orphanet epidemiological data):

48
hereditary thrombocytopenia with normal platelets:
Inheritance: Autosomal dominant,Autosomal recessive,X-linked recessive; Age of onset: Variable


Aliases & Descriptions:

x-linked thrombocytopenia 42 21
thrombocytopenia, x-linked 42 20 22 46
thrombocytopenia 1 42 21 44 60
hereditary thrombocytopenia with normal platelets 48 46
x-linked thrombocytopenia with normal platelets 42 48
xlt 42 21
thc1 42


External Ids:

ICD10 via Orphanet26 D69.4

Related Diseases for X-Linked Thrombocytopenia

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17GeneCards, 18GeneDecks
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Graphical network of diseases related to X-Linked Thrombocytopenia:



Diseases related to x-linked thrombocytopenia

Clinical Features for X-Linked Thrombocytopenia

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46OMIM
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Clinical features from OMIM:

273900,313900,188000,612004

Clinical synopsis from OMIM:

273900

Drugs & Therapeutics for X-Linked Thrombocytopenia

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-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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20GeneTests, 22GTR
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Genetic tests related to X-Linked Thrombocytopenia:

id Genetic test Affiliating Genes
1 X-Linked Thrombocytopenia20
2 Thrombocytopenia, X-Linked22

Anatomical Context for X-Linked Thrombocytopenia

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32MalaCards
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MalaCards organs/tissues related to X-Linked Thrombocytopenia:

32
Brain

Animal Models for X-Linked Thrombocytopenia or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to X-Linked Thrombocytopenia:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053847.5ZFPM1, CD79A, GATA1, WAS, WIPF1
2MP:00053977.4ZFPM1, CD79A, GATA1, WAS, WIPF1
3MP:00053877.2WIPF1, WAS, GATA1, CD79A, ZFPM1

Publications for X-Linked Thrombocytopenia

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Genetic Variations for X-Linked Thrombocytopenia

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for X-Linked Thrombocytopenia:

62
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

Expression for genes affiliated with X-Linked Thrombocytopenia

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1BioGPS, 15Gene 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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Sources:
37NCBI BioSystems Database, 53Reactome, 29KEGG, 4Cell Signaling Technology, 12EMD Millipore
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Compounds for genes affiliated with X-Linked Thrombocytopenia

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Sources:
44Novoseek, 11DrugBank, 24HMDB, 49PharmGKB, 2BitterDB
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Compounds related to X-Linked Thrombocytopenia according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1folate449.1CD79A, GATA1
2cytidine44 11 2411.0CD79A, GATA1
3azathioprine44 49 2 1111.8CD79A, GATA1

GO Terms for genes affiliated with X-Linked Thrombocytopenia

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Sources:
16Gene Ontology
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Cellular components related to X-Linked Thrombocytopenia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1actin cytoskeletonGO:0156299.4WAS, WIPF1
2transcriptional repressor complexGO:0170539.1ZFPM1, GATA1

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

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1transcriptional activation by promoter-enhancer loopingGO:0717339.7ZFPM1, GATA1
2regulation of definitive erythrocyte differentiationGO:0107249.7ZFPM1, GATA1
3megakaryocyte differentiationGO:0302199.6GATA1, ZFPM1
4platelet formationGO:0302209.6ZFPM1, GATA1
5actin polymerization or depolymerizationGO:0081549.5WAS, WIPF1
6actin filament-based movementGO:0300489.5WIPF1, WAS
7embryonic hemopoiesisGO:0351629.5ZFPM1, GATA1
8erythrocyte differentiationGO:0302189.4ZFPM1, GATA1
9protein complex assemblyGO:0064619.4WAS, WIPF1
10Fc-gamma receptor signaling pathway involved in phagocytosisGO:0380969.1WAS, WIPF1
11blood coagulationGO:0075968.9WAS, GATA1, ZFPM1

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

idNameGO IDScoreTop Affiliating Genes
1RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negativeGO:0010789.4ZFPM1, GATA1
2RNA polymerase II transcription factor bindingGO:0010859.1ZFPM1, GATA1

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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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet