Wiskott-Aldrich syndrome
Findings
No curated finding names Wiskott-Aldrich syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Wiskott-Aldrich syndrome (WAS) is a primary immunodeficiency disease characterized by microthrombocytopenia, eczema, infections and an increased risk for autoimmune manifestations and malignancies.
Definition from the Mondo Disease Ontology (MONDO:0010518), read 2026-09-29. CC BY 4.0.
- Inheritance
- X-linked recessive inheritance
- Onset and course
- Infantile onset · Neonatal onset · Childhood onset
HPO, annotations 2026-09-02
Features
111 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal natural killer cell physiologyHPOHP:0012177
- 2 of 2 reported patients
- Anti-GAD65 antibodyHPOHP:5000011
- 1 of 1 reported patient
- Anti-insulin antibody positivityHPOHP:0034062
- 1 of 1 reported patient
- Antinuclear antibody positivityHPOHP:0003493
- 1 of 1 reported patient
- AspirationHPOHP:0002835
- 1 of 1 reported patient
- Bone marrow hypercellularityHPOHP:0031020
- 1 of 1 reported patient
- Bone marrow hypocellularityHPO
Show the remaining 99
- Decreased mean platelet volumeHPOHP:0005537
- 65 of 65 reported patients
- Decreased total leukocyte countHPOHP:0001882
- 1 of 1 reported patient
- Decreased total neutrophil countHPOHP:0001875
- 1 of 1 reported patient
- Occasional (5% to 29% of cases)
- Decreased transferrin saturationHPOHP:0012464
- 1 of 1 reported patient
- EcchymosisHPOHP:0031364
- 1 of 1 reported patient
- Failure to thriveHPOHP:0001508
- 1 of 1 reported patient
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- WASHGNC:12731
- Definitive · Ambry Genetics · X-linked · 2018
- Definitive · ClinGen · X-linked · 2018
- Definitive · Natera · X-linked recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · X-linked · 2023
- Strong · PanelApp Australia · X-linked · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
6 names
Resolves to: Wiskott-Aldrich syndrome
- Also called
- eczema-thrombocytopenia-immunodeficiency syndromeimmunodeficiency 2WASWiskott Aldrich syndromeWiskott-Aldrich syndrome 1Wiskott-Aldrich syndrome, X-linked recessive