Wiskott-Aldrich Syndrome malady
Categories: Genetic diseases, Rare diseases, Immune diseases, Skin diseases, Blood diseases
50OMIM, 33LifeMap Discovery®, 11Disease Ontology, 23GeneTests, 24Genetics Home Reference, 13DISEASES, 52Orphanet, 68UniProtKB/Swiss-Prot, 12diseasecard, 48Novoseek, 37MeSH, 66UMLS, 46NIH Rare Diseases, 25GTR, 28ICD10, 30ICD9CM, 43NCIt, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 35MedGen, 60SNOMED-CT, 62The Human Phenotype Ontology
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Aliases & Descriptions for Wiskott-Aldrich Syndrome:
Orphanet epidemiological data:52
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable,X-linked recessive; Prevalence: 1-9/1000000 (Europe),1-9/1000000 (France); Age of onset: Infancy,Neonatal; Age of death: any age
Inheritance: x-linked recessive inheritance
Global: Genetic diseases, Rare diseases
Anatomical: Immune diseases, Skin diseases, Blood diseases
ICD10: 29 28
NIH Rare Diseases:46 Wiskott aldrich syndrome (was) is a condition characterized by immunodeficiency and reduced ability to form blood clots. it primarily affects males. signs and symptoms include easy bruising or bleeding due to a decrease in the number and size of platelets; susceptibility to infections, immune disorders and inflammatory disorders; and an increased risk for some cancers (such as lymphoma). eczema is common in affected people. was is caused by mutations in the was gene and is inherited in an x-linked manner. treatment may depend on severity and symptoms in each person, but stem cell transplantation is the only known cure. last updated: 4/10/2015
MalaCards based summary: Wiskott-Aldrich Syndrome, also known as eczema-thrombocytopenia-immunodeficiency syndrome, is related to buruli ulcer and wiskott-aldrich syndrome 2, and has symptoms including sinusitis, otitis media and bruising susceptibility. An important gene associated with Wiskott-Aldrich Syndrome is WAS (Wiskott-Aldrich Syndrome), and among its related pathways are G13 Signaling Pathway and Signaling by Slit. Affiliated tissues include t cells, bone and skin.
UniProtKB/Swiss-Prot:68 Wiskott-Aldrich syndrome: An X-linked recessive immunodeficiency characterized by eczema, thrombocytopenia, recurrent infections, and bloody diarrhea. Death usually occurs before age 10.
Genetics Home Reference:24 Wiskott-Aldrich syndrome is characterized by abnormal immune system function (immune deficiency) and a reduced ability to form blood clots. This condition primarily affects males.
OMIM:50 Wiskott-Aldrich syndrome is an X-linked recessive immunodeficiency characterized by thrombocytopenia, eczema, and... (301000) more...
Wikipedia:69 Wiskott–Aldrich syndrome (WAS) is a rare X-linked recessive disease characterized by eczema,... more...
Symptoms by clinical synopsis from OMIM:301000
Clinical features from OMIM:301000
Symptoms:52 (show all 57)
HPO human phenotypes related to Wiskott-Aldrich Syndrome:(show all 71)
UMLS symptoms related to Wiskott-Aldrich Syndrome:diarrhea, hematemesis
Drugs for Wiskott-Aldrich Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show top 50) (show all 110)
Interventional clinical trials:(show top 50) (show all 74)
Search NIH Clinical Center for Wiskott-Aldrich Syndrome
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Wiskott-Aldrich Syndrome cell therapies at LifeMap Discovery.
Stem-cell-based therapeutic approaches for Wiskott-Aldrich Syndrome:
Embryonic/Adult Cultured Cells Related to Wiskott-Aldrich Syndrome:
MalaCards organs/tissues related to Wiskott-Aldrich Syndrome:34
T cells, Bone, Skin, Bone marrow, B cells, Kidney, Thymus
Articles related to Wiskott-Aldrich Syndrome:(show top 50) (show all 612)
UniProtKB/Swiss-Prot genetic disease variations for Wiskott-Aldrich Syndrome:68 (show all 19)
Clinvar genetic disease variations for Wiskott-Aldrich Syndrome:5 (show all 18)
Search GEO for disease gene expression data for Wiskott-Aldrich Syndrome.
Pathways related to Wiskott-Aldrich Syndrome according to GeneCards Suite gene sharing:(show all 34)
Cellular components related to Wiskott-Aldrich Syndrome according to GeneCards Suite gene sharing:(show all 12)
Biological processes related to Wiskott-Aldrich Syndrome according to GeneCards Suite gene sharing:(show all 27)
Molecular functions related to Wiskott-Aldrich Syndrome according to GeneCards Suite gene sharing:
29ICD10 via Orphanet
38MESH via Orphanet
51OMIM via Orphanet
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
67UMLS via Orphanet