MCID: THR065

Thrombocytopenia, X-Linked, Intermittent malady

Genetic diseases (common), Blood diseases categories
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Summaries for Thrombocytopenia, X-Linked, Intermittent

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47OMIM, 33MalaCards
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MalaCards: Thrombocytopenia, X-Linked, Intermittent An important gene associated with Thrombocytopenia, X-Linked, Intermittent is WAS (Wiskott-Aldrich syndrome).

Description from OMIM:47 313900

Aliases & Classifications for Thrombocytopenia, X-Linked, Intermittent

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47OMIM
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Classifications:

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


Aliases & Descriptions:

thrombocytopenia, x-linked, intermittent 47


Related Diseases for Thrombocytopenia, X-Linked, Intermittent

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Symptoms for Thrombocytopenia, X-Linked, Intermittent

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47OMIM
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Clinical features from OMIM:

313900

Drugs & Therapeutics for Thrombocytopenia, X-Linked, Intermittent

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Thrombocytopenia, X-Linked, Intermittent

Search NIH Clinical Center for Thrombocytopenia, X-Linked, Intermittent

Genetic Tests for Thrombocytopenia, X-Linked, Intermittent

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Anatomical Context for Thrombocytopenia, X-Linked, Intermittent

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Animal Models for Thrombocytopenia, X-Linked, Intermittent or affiliated genes

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Publications for Thrombocytopenia, X-Linked, Intermittent

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Variations for Thrombocytopenia, X-Linked, Intermittent

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Sources:
64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 7dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Thrombocytopenia, X-Linked, Intermittent:

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 Thrombocytopenia, X-Linked, Intermittent:

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 Thrombocytopenia, X-Linked, Intermittent

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Thrombocytopenia, X-Linked, Intermittent

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Pathways for genes affiliated with Thrombocytopenia, X-Linked, Intermittent

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Compounds for genes affiliated with Thrombocytopenia, X-Linked, Intermittent

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GO Terms for genes affiliated with Thrombocytopenia, X-Linked, Intermittent

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Products for genes affiliated with Thrombocytopenia, X-Linked, Intermittent

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Thrombocytopenia, X-Linked, Intermittent

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet