Details of Disease

General Information of Disease (ID: DISRH3TQ)

Disease Name Shwachman-Diamond syndrome 1
Synonyms SDS1; pancreatic insufficiency and bone marrow dysfunction; Shwachman-Diamond syndrome; lipomatosis of pancreas, congenital; Shwachman-Bodian syndrome; Shwachman-Diamond syndrome 1
Disease Hierarchy
DISW57NW: Shwachman-Diamond syndrome
DISRH3TQ: Shwachman-Diamond syndrome 1
Disease Identifiers
MONDO ID
MONDO_0044204
UMLS CUI
C4692625
OMIM ID
260400
MedGen ID
1640046

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
SRP54 OT9SGF3X Strong CausalMutation [1]
SBDS OTHDCCIB Definitive Autosomal recessive [2]
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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.
2 Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP. Nat Commun. 2019 May 30;10(1):2373. doi: 10.1038/s41467-019-10016-3.