Wiskott-aldrich Syndrome (WAS) malady

NIH Rare Diseases:³⁹ Wiskott aldrich syndrome is a condition that affects blood cells and cells of the immune system. it is seen almost exclusively in males. the condition is characterized by a tendency to bleed easily, development of an intensely itchy, scaling skin rash (eczema), and severe recurrent infections. wiskott aldrich syndrome is caused by mutations in the was gene, which is located on the x chromosome. the condition is inherited in an x-linked recessive pattern. the leading treatment option for wiskott aldrich syndrome is bone marrow transplantation. alternative treatments may include surgery to remove the spleen and other more conservative measures such as antibiotics, ivig, and avoidance of foods which may cause allergic reactions.

MalaCards: Wiskott-aldrich Syndrome, also known as eczema-thrombocytopenia-immunodeficiency syndrome, is related to thrombocytopenia and eczema, and has symptoms including intellectual deficit/mental/psychomotor retardation/learning disability, chronic/relapsing otitis and repeat respiratory infections. An important gene associated with Wiskott-aldrich Syndrome is WAS (Wiskott-Aldrich syndrome), and among its related pathways are Immune System and Regulation of actin dynamics for phagocytic cup formation. The compounds pip2 and wiskostatin have been mentioned in the context of this disorder. Affiliated tissues include skin, skin and lung, and related mouse phenotypes are hematopoietic system and immune system.

Genetics Home Reference:²⁰ 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.

Wikipedia:⁵⁹ Wiskott–Aldrich syndrome (WAS) is a rare X-linked recessive disease characterized by eczema,... more...

OMIM:

External Ids:

Disease Ontology8 DOID:9169 MeSH31 C538675, D014923 OMIM43 301000, 277970, 600903 614493, more NCIt36 C3448 ICD9CM25 279.12 SNOMED-CT52 36070007

MESH via Orphanet32 D014923 ICD10 via Orphanet24 D82.0 SNOMED-CT via Orphanet53 36070007 UMLS via Orphanet57 C0043194 ICD1023 D82.0 UMLS56 C0043194

Clinical features from OMIM:

Symptoms:

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intellectual deficit/mental/psychomotor retardation/learning disability chronic/relapsing otitis repeat respiratory infections renal disease/nephropathy asthenia/fatigue/weakness fever/chilling respiratory distress/dyspnea/respiratory failure/lung volume reduction cardiac rhythm disorder/arrhythmia immunodeficiency/increased susceptibility to infections/recurrent infections anaemia chronic skin infection/ulcerations/ulcers/cancrum peripheral neuropathy nasal congestion/sinusitis/rhinitis/rhinorrhea thoracic/chest pain autoimmunity/autoimmune reaction/autoantibodies urticaria gastrointestinal bleeding/hemorrhage/hematemesis/melena/rectorrhagia x-linked recessive inheritance thrombocytopenia/thrombopenia

purpura/petichiae collapse/sudden death/cardiac arrest/cardiorespiratory arrest renal glomerular defect/glomerulopathy hematomas chronic obstructive pulmonary disease/copd/obstructive respiratory syndrome lymphopenia acute leukemia epistaxis/nose bleeding acute diarrhea platelets shape anomalies hemorrhage/hemorrhagic syndrome/excessive/long-lasting bleeding internal hemorrhage chronic uveitis/blepharitis/episcleritis/scleritis/conjonctivitis/keratitis eczema meningitis/meningeal syndrome platelets function anomaly lymphoma sepsis severe/septicemia