Details of Disease

General Information of Disease (ID: DIS68DCJ)

Disease Name Seckel syndrome 9
Synonyms TRAIP Seckel syndrome; Seckel syndrome type 9; SCKL9; Seckel syndrome caused by mutation in TRAIP; Seckel syndrome 9
Definition Any Seckel syndrome in which the cause of the disease is a mutation in the TRAIP gene.
Disease Hierarchy
DISZ93BO: Primordial dwarfism and slender bone disorder
DISEVUBA: Seckel syndrome
DIS68DCJ: Seckel syndrome 9
Disease Identifiers
MONDO ID
MONDO_0014767
UMLS CUI
C4225212
OMIM ID
616777
MedGen ID
907155

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
TRAIP OTMPT9Y2 Strong Autosomal recessive [1]
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References

1 TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism. Nat Genet. 2016 Jan;48(1):36-43. doi: 10.1038/ng.3451. Epub 2015 Nov 23.