Details of Disease

General Information of Disease (ID: DISASRUP)

Disease Name Seckel syndrome 6
Synonyms Seckel syndrome type 6; Seckel syndrome 6; SCKL6; CEP63 Seckel syndrome; Seckel syndrome caused by mutation in CEP63
Definition Any Seckel syndrome in which the cause of the disease is a mutation in the CEP63 gene.
Disease Hierarchy
DISEVUBA: Seckel syndrome
DISASRUP: Seckel syndrome 6
Disease Identifiers
MONDO ID
MONDO_0013871
UMLS CUI
C3553582
OMIM ID
614728
MedGen ID
766496

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
CEP63 OTX3TTZH Strong Autosomal recessive [1]
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References

1 A primary microcephaly protein complex forms a ring around parental centrioles. Nat Genet. 2011 Oct 9;43(11):1147-53. doi: 10.1038/ng.971.