Details of Disease

General Information of Disease (ID: DIS3SZFH)

Disease Name Wiskott-Aldrich syndrome 2
Synonyms WAS2; Wipf1 deficiency; Wiskott-Aldrich syndrome caused by mutation in WIPF1; WIPF1 Wiskott-Aldrich syndrome; Wiskott-Aldrich syndrome 2; Wiskott-Aldrich syndrome type 2
Definition Any Wiskott-Aldrich syndrome in which the cause of the disease is a mutation in the WIPF1 gene.
Disease Hierarchy
DIS093I0: Immunodeficiency
DIS3SZFH: Wiskott-Aldrich syndrome 2
Disease Identifiers
MONDO ID
MONDO_0013779
UMLS CUI
C3281001
OMIM ID
614493
MedGen ID
482631

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
WIPF1 OTWZO0DW Definitive Autosomal recessive [1]
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References

1 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.