Details of Disease

General Information of Disease (ID: DISPZ2S7)

Disease Name X-linked severe congenital neutropenia
Synonyms
SCNX; Xln; severe congenital neutropenia X-linked; neutropenia, severe congenital, X-linked; severe congenital neutropenia, X-linked; neutropenia, severe congenital, X-linked, X-linked recessive; X-linked severe congenital neutropenia
Definition
This syndrome is an immunodeficiency syndrome characterized by recurrent major bacterial infections, severe congenital neutropenia, and monocytopenia. It has been described in five males spanning three generations of one family. It is transmitted as an X-linked recessive trait and is caused by mutations in the WAS gene, encoding the WASP protein.
Disease Hierarchy
DISES99N: Severe congenital neutropenia
DIS3PN9X: X-linked disease
DISPZ2S7: X-linked severe congenital neutropenia
Disease Identifiers
MONDO ID
MONDO_0010294
MESH ID
C564539
UMLS CUI
C1845987
OMIM ID
300299
MedGen ID
335314
Orphanet ID
86788
SNOMED CT ID
718882006

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
WAS OTD03E8M Definitive X-linked [1]
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This Disease Is Related to 3 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
ELANE TTPLTSQ Strong Genetic Variation [2]
WAS TTE8T73 Strong CausalMutation [3]
WAS TTE8T73 Definitive X-linked [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.
2 Homozygous HAX1 mutations in severe congenital neutropenia patients with sporadic disease: a novel mutation in two unrelated British kindreds.Br J Haematol. 2009 Mar;144(5):762-70. doi: 10.1111/j.1365-2141.2008.07493.x. Epub 2008 Nov 22.
3 Defective thymic output in WAS patients is associated with abnormal actin organization.Sci Rep. 2017 Sep 20;7(1):11978. doi: 10.1038/s41598-017-12345-z.