Details of Disease

General Information of Disease (ID: DIS1OXUF)

Disease Name Combined immunodeficiency due to GINS1 deficiency
Synonyms
immunodeficiency 55; IMD55; CID due to GINS1 deficiency; combined immunodeficiency with intrauterine growth retardation-natural killer cell deficiency-neutropenia; combined immunodeficiency with intrauterine growth retardation-NK cell deficiency-neutropenia
Disease Hierarchy
DISKR6QJ: Combined immunodeficiency
DIS1OXUF: Combined immunodeficiency due to GINS1 deficiency
Disease Identifiers
MONDO ID
MONDO_0044725
UMLS CUI
C5568132
OMIM ID
617827
MedGen ID
1799555
Orphanet ID
505227
SNOMED CT ID
1179286007

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
GINS1 OTVQZMMQ Supportive Autosomal recessive [1]
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References

1 Inherited GINS1 deficiency underlies growth retardation along with neutropenia and NK cell deficiency. J Clin Invest. 2017 May 1;127(5):1991-2006. doi: 10.1172/JCI90727. Epub 2017 Apr 17.