Details of Disease

General Information of Disease (ID: DISDESQ0)

Disease Name Neutropenia, severe congenital, 8, autosomal dominant
Synonyms
NEUTROPENIA, SEVERE CONGENITAL, 8, AUTOSOMAL DOMINANT; SCN8; Shwachman-Diamond Syndrome-Like; Neutropenia, Severe Congenital, 8, Autosomal Dominant, With or Without Pancreatic Dysfunction And/Or Neurologic Abnormalities
Disease Hierarchy
DISES99N: Severe congenital neutropenia
DISDESQ0: Neutropenia, severe congenital, 8, autosomal dominant
Disease Identifiers
MONDO ID
MONDO_0032899
UMLS CUI
C5203411
OMIM ID
618752
MedGen ID
1684816

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
SRP54 OT9SGF3X Strong Autosomal dominant [1]
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References

1 Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond-like features. J Clin Invest. 2017 Nov 1;127(11):4090-4103. doi: 10.1172/JCI92876. Epub 2017 Oct 3.