Details of Disease

General Information of Disease (ID: DISIHLPK)

Disease Name Neutropenia, severe congenital, 2, autosomal dominant
Synonyms
SCN2; GFI1 autosomal dominant severe congenital neutropenia; neutropenia, severe congenital, 2, autosomal dominant; autosomal dominant severe congenital neutropenia caused by mutation in GFI1; neutropenia, severe congenital 2, autosomal dominant
Definition Any autosomal dominant severe congenital neutropenia in which the cause of the disease is a mutation in the GFI1 gene.
Disease Hierarchy
DISZC7BV: Autosomal dominant severe congenital neutropenia
DISIHLPK: Neutropenia, severe congenital, 2, autosomal dominant
Disease Identifiers
MONDO ID
MONDO_0013139
MESH ID
C567748
UMLS CUI
C2751288
OMIM ID
613107
MedGen ID
413975

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
GFI1 OT9HB9H8 Strong Autosomal dominant [1]
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References

1 Mutations in proto-oncogene GFI1 cause human neutropenia and target ELA2. Nat Genet. 2003 Jul;34(3):308-12. doi: 10.1038/ng1170.