Details of Disease

General Information of Disease (ID: DIS4Z4HH)

Disease Name Silver-Russell syndrome 3
Synonyms GRDF; SRS3; growth restriction, severe, with distinctive facies
Disease Hierarchy
DISSVJ1D: Silver-Russell syndrome
DIS4Z4HH: Silver-Russell syndrome 3
Disease Identifiers
MONDO ID
MONDO_0014663
UMLS CUI
C4225307
OMIM ID
616489
MedGen ID
894912

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
IGF2 TTE8WGO Strong Biomarker [1]
IGF2 TTE8WGO Definitive Autosomal dominant [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
IGF2 OTJ4O6MW Definitive Autosomal dominant [2]
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References

1 Paternally Inherited IGF2 Mutation and Growth Restriction. N Engl J Med. 2015 Jul 23;373(4):349-56. doi: 10.1056/NEJMoa1415227. Epub 2015 Jul 8.
2 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.