Details of Disease

General Information of Disease (ID: DIS16EES)

Disease Name Seckel syndrome 8
Synonyms Seckel syndrome caused by mutation in DNA2; DNA2 Seckel syndrome; Seckel syndrome 8; Seckel syndrome type 8; SCKL8
Definition Any Seckel syndrome in which the cause of the disease is a mutation in the DNA2 gene.
Disease Hierarchy
DISZ93BO: Primordial dwarfism and slender bone disorder
DISEVUBA: Seckel syndrome
DIS16EES: Seckel syndrome 8
Disease Identifiers
MONDO ID
MONDO_0014350
UMLS CUI
C3891452
OMIM ID
615807
MedGen ID
856014

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
DNA2 OT4DJFFU Strong Autosomal recessive [1]
------------------------------------------------------------------------------------

References

1 Genomic analysis of primordial dwarfism reveals novel disease genes. Genome Res. 2014 Feb;24(2):291-9. doi: 10.1101/gr.160572.113. Epub 2014 Jan 3.