XLT
MCID: XLN068
MIFTS: 51

X-Linked Thrombocytopenia (XLT) malady

Genetic diseases, Rare diseases, Blood diseases categories
Download this MalaCard

Summaries for X-Linked Thrombocytopenia

About this section


Fully expand this MalaCard
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 based summary: X-Linked Thrombocytopenia, also known as thrombocytopenia, x-linked, is related to thrombocytopenia and wiskott-aldrich syndrome, and has symptoms including 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 brain, t cells and bone marrow, and related mouse phenotypes are homeostasis/metabolism and cellular.

Description from OMIM:46 313900

Aliases & Classifications for X-Linked Thrombocytopenia

About this section
Sources:
42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 44Novoseek, 48Orphanet, 62UMLS, 26ICD10 via Orphanet
See all sources

X-Linked Thrombocytopenia, Aliases & Descriptions:

Name: X-Linked Thrombocytopenia 42 21
Thrombocytopenia, X-Linked 42 20 22 46
Thrombocytopenia 1 42 21 44 62
 
X-Linked Thrombocytopenia with Normal Platelets 42 48
Xlt 42 21
Thc1 42


Classifications:

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


External Ids:

OMIM46 313900
ICD10 via Orphanet26 D69.4

Related Diseases for X-Linked Thrombocytopenia

About this section

Graphical network of diseases related to X-Linked Thrombocytopenia:



Diseases related to x-linked thrombocytopenia

Symptoms for X-Linked Thrombocytopenia

About this section

Symptoms by clinical synopsis from OMIM:

313900

Clinical features from OMIM:

313900

HPO human phenotypes related to X-Linked Thrombocytopenia:

(show all 12)
id Description Frequency HPO Source Accession
1 epistaxis HP:0000421
2 eczema HP:0000964
3 petechiae HP:0000967
4 bruising susceptibility HP:0000978
5 x-linked recessive inheritance HP:0001419
6 congenital thrombocytopenia HP:0001905
7 abnormality of the musculature HP:0003011
8 increased ige level HP:0003212
9 increased iga level HP:0003261
10 intermittent thrombocytopenia HP:0004854
11 joint hemorrhage HP:0005261
12 decreased mean platelet volume HP:0005537

Drugs & Therapeutics for X-Linked Thrombocytopenia

About this section

Drug clinical trials:

Search ClinicalTrials for X-Linked Thrombocytopenia

Search NIH Clinical Center for X-Linked Thrombocytopenia

Genetic Tests for X-Linked Thrombocytopenia

About this section

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

About this section

MalaCards organs/tissues related to X-Linked Thrombocytopenia:

32
Brain, T cells, Bone marrow, Bone, Kidney

Animal Models for X-Linked Thrombocytopenia or affiliated genes

About this section

MGI Mouse Phenotypes related to X-Linked Thrombocytopenia:

36
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

About this section

Articles related to X-Linked Thrombocytopenia:

(show all 41)
idTitleAuthorsYear
1
Disruption of hSWI/SNF-Complexes in T cells by WAS Mutations Distinguishes X-linked Thrombocytopenia from Wiskott-Aldrich Syndrome. (25253772)
2014
2
Successful long-term outcome of kidney transplantation in a patient with x-linked thrombocytopenia: 9-year follow-up. (25221901)
2014
3
X-Linked thrombocytopenia causing mutations in WASP (L46P and A47D) impair T cell chemotaxis. (25200405)
2014
4
Hematopoietic Stem Cell Transplantation for X-Linked Thrombocytopenia With Mutations in the WAS gene. (25388447)
2014
5
X-linked thrombocytopenia in three males with normal sized platelets due to novel WAS gene mutations. (25154619)
2014
6
Allogeneic Bone Marrow Transplantation Appears to Ameliorate IgA Nephropathy in a Patient with X-linked Thrombocytopenia. (24217816)
2013
7
Aberrant glycosylation of IgA in Wiskott-Aldrich syndrome and X-linked thrombocytopenia. (23107152)
2013
8
X-linked thrombocytopenia in a female with a complex familial pattern of X-chromosome inactivation. (23689198)
2013
9
Intermittent X-linked thrombocytopenia with a novel WAS gene mutation. (24115682)
2013
10
A case of familial X-linked thrombocytopenia with a novel WAS gene mutation. (23807894)
2013
11
IVS6+5G>A found in Wiskott-Aldrich syndrome and X-linked thrombocytopenia in a Korean family. (22038941)
2012
12
Successful handling of autoimmunity in X-linked thrombocytopenia (XLT) using mycophenolate mofetil. (22692965)
2012
13
Monozygotic twin pair showing discordant phenotype for X-linked thrombocytopenia and Wiskott-Aldrich syndrome: a role for epigenetics? (21710275)
2011
14
Hematopoietic stem cell transplantation for X-linked thrombocytopenia from a mild symptomatic carrier. (19684625)
2010
15
X-linked thrombocytopenia (XLT) due to WAS mutations: clinical characteristics, long-term outcome, and treatment options. (20173115)
2010
16
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
17
Atypical lymphoproliferative disorder in a patient with X-linked thrombocytopenia. (18523994)
2008
18
Detection of 28 novel mutations in the Wiskott-Aldrich syndrome and X-linked thrombocytopenia based on multiplex PCR. (17400488)
2007
19
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
20
Identification of WASP mutations in 10 Australian families with Wiskott-Aldrich syndrome and X-linked thrombocytopenia. (15203732)
2004
21
IgA nephropathy associated with X-linked thrombocytopenia. (14981635)
2004
22
Transgenic rescue of GATA-1-deficient mice with GATA-1 lacking a FOG-1 association site phenocopies patients with X-linked thrombocytopenia. (14656885)
2004
23
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
24
Macrophages of patients with X-linked thrombocytopenia display an attenuated Wiskott-Aldrich syndrome phenotype. (12631236)
2003
25
X-linked thrombocytopenia in a girl. (12199801)
2002
26
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
27
Missense mutations of the WASP gene cause intermittent X-linked thrombocytopenia. (11877312)
2002
28
X-linked thrombocytopenia caused by a novel mutation of GATA-1. (11675338)
2001
29
Protein assays for diagnosis of Wiskott-Aldrich syndrome and X-linked thrombocytopenia. (11442475)
2001
30
Missense C168T in the Wiskott-Aldrich Syndrome protein gene is a common mutation in X-linked thrombocytopenia. (11167787)
2001
31
X-linked thrombocytopenia identified by flow cytometric demonstration of defective Wiskott-Aldrich syndrome protein in lymphocytes. (10691337)
2000
32
Mutations of the WASP gene in 10 Japanese patients with Wiskott-Aldrich syndrome and X-linked thrombocytopenia. (10729999)
2000
33
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
34
Wiskott-Aldrich syndrome/X-linked thrombocytopenia: WASP gene mutations, protein expression, and phenotype. (9326235)
1997
35
Isolated X-linked thrombocytopenia in two unrelated families is associated with point mutations in the Wiskott-Aldrich syndrome protein gene. (8757563)
1996
36
Mutation spectrum in patients with Wiskott-Aldrich syndrome and X-linked thrombocytopenia: identification of twelve different mutations in the WASP gene. (8743175)
1996
37
WASP gene mutations in Wiskott-Aldrich syndrome and X-linked thrombocytopenia. (8528199)
1995
38
X-linked thrombocytopenia and Wiskott-Aldrich syndrome are allelic diseases with mutations in the WASP gene. (7795648)
1995
39
X-linked thrombocytopenia and thrombocytopathia: attenuated Wiskott-Aldrich syndrome. Functional and morphological studies of platelets and lymphocytes. (2048054)
1991
40
X-linked thrombocytopenia and Wiskott-Aldrich syndrome: similar regional assignment but distinct X-inactivation pattern in carriers. (1912030)
1991
41
Hereditary X-linked thrombocytopenia maps to the same chromosomal region as the Wiskott-Aldrich syndrome. (2904289)
1988

Variations for X-Linked Thrombocytopenia

About this section

UniProtKB/Swiss-Prot genetic disease variations for X-Linked Thrombocytopenia:

64
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:

6
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
6WASNM_000377.2(WAS): c.538C> A (p.His180Asn)single nucleotide variantLikely pathogenicrs145040665GRCh37Chr X, 48544502: 48544502

Expression for genes affiliated with X-Linked Thrombocytopenia

About this section
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

About this section

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 cells60
9.4WAS, WIPF1
5
Show member pathways
9.4WAS, WIPF1
6
Show member pathways
BCR signaling pathway37
TCR Signaling Pathway37
9.2CD79A, WAS
79.2WAS, CD79A
89.1CD79A, GATA1
9
Show member pathways
Immune response BCR pathway60
Fc-epsilon receptor I signaling in mast cells37
9.0CD79A, WIPF1

Compounds for genes affiliated with X-Linked Thrombocytopenia

About this section
Sources:
44Novoseek, 24HMDB, 11DrugBank, 2BitterDB, 50PharmGKB
See all sources

Compounds related to X-Linked Thrombocytopenia according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1cytidine44 24 1111.1CD79A, GATA1
2vitamin d449.1CD79A, GATA1
3azathioprine44 2 50 1112.0CD79A, GATA1
4folate448.8CD79A, GATA1

GO Terms for genes affiliated with X-Linked Thrombocytopenia

About this section

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

About this section
  • Antibodies
  • Proteins
  • Lysates

Sources for X-Linked Thrombocytopenia

About this section
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet