MCID: THR042
MIFTS: 32

Thrombocytopenia, X-Linked malady

Genetic diseases, Rare diseases, Blood diseases categories

Summaries for Thrombocytopenia, X-Linked

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OMIM:45 Hereditary nonsyndromic thrombocytopenia is characterized by decreased numbers of platelets and bleeding tendency... (313900) more...

MalaCards based summary: Thrombocytopenia, X-Linked, also known as thrombocytopenia 1, is related to wiskott-aldrich syndrome and thrombocytopenia, and has symptoms including epistaxis, eczema and petechiae. An important gene associated with Thrombocytopenia, X-Linked is WAS (Wiskott-Aldrich syndrome). The compound serine have been mentioned in the context of this disorder. Affiliated tissues include brain, and related mouse phenotype skeleton.

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.

Aliases & Classifications for Thrombocytopenia, X-Linked

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Sources:
45OMIM, 10diseasecard, 41NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 43Novoseek, 47Orphanet, 22GTR, 60UMLS, 26ICD10 via Orphanet
See all sources

Thrombocytopenia, X-Linked, Aliases & Descriptions:

Name: Thrombocytopenia, X-Linked 45 10 41
Thrombocytopenia 1 45 41 21 43 60
X-Linked Thrombocytopenia 41 20 21 22
X-Linked Thrombocytopenia with Normal Platelets 41 47
 
Thrombocytopenia, X-Linked, Intermittent 45 22
Xlt 41 21
Thc1 41


Classifications:

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


External Ids:

OMIM45 313900
Orphanet47 852
ICD10 via Orphanet26 D69.4

Related Diseases for Thrombocytopenia, X-Linked

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Diseases related to Thrombocytopenia, X-Linked via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1wiskott-aldrich syndrome30.8WAS, GATA1
2thrombocytopenia30.5WAS, GATA1
3thrombocytopenia, x-linked, with or without dyserythropoietic anemia10.4
4thalassemia10.4
5thrombocytopenia with beta-thalassemia, x-linked10.4
6hematopoietic stem cell transplantation10.3
7myelofibrosis10.1
8bernard-soulier syndrome, type c10.1

Graphical network of diseases related to Thrombocytopenia, X-Linked:



Diseases related to thrombocytopenia, x-linked

Symptoms for Thrombocytopenia, X-Linked

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Symptoms by clinical synopsis from OMIM:

313900

Clinical features from OMIM:

313900

HPO human phenotypes related to Thrombocytopenia, X-Linked:

(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 Thrombocytopenia, X-Linked

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Drug clinical trials:

Search ClinicalTrials for Thrombocytopenia, X-Linked

Search NIH Clinical Center for Thrombocytopenia, X-Linked

Genetic Tests for Thrombocytopenia, X-Linked

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Genetic tests related to Thrombocytopenia, X-Linked:

id Genetic test Affiliating Genes
1 X-Linked Thrombocytopenia20
2 Thrombocytopenia, X-Linked22
3 Thrombocytopenia, X-Linked, Intermittent22

Anatomical Context for Thrombocytopenia, X-Linked

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

31
Brain

Animal Models for Thrombocytopenia, X-Linked or affiliated genes

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MGI Mouse Phenotypes related to Thrombocytopenia, X-Linked:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053909.1GATA1, WAS

Publications for Thrombocytopenia, X-Linked

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Variations for Thrombocytopenia, X-Linked

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

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

Clinvar genetic disease variations for Thrombocytopenia, X-Linked:

6
id Gene Variation 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 Thrombocytopenia, X-Linked

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

Pathways for genes affiliated with Thrombocytopenia, X-Linked

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Compounds for genes affiliated with Thrombocytopenia, X-Linked

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Sources:
43Novoseek
See all sources

Compounds related to Thrombocytopenia, X-Linked according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1serine439.1GATA1, WAS

GO Terms for genes affiliated with Thrombocytopenia, X-Linked

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Biological processes related to Thrombocytopenia, X-Linked according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1blood coagulationGO:00075969.1GATA1, WAS

Products for genes affiliated with Thrombocytopenia, X-Linked

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Thrombocytopenia, X-Linked

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet