Details of Disease | DrugMAP

General Information of Disease (ID: DISXWV3X)

Disease Name	3M syndrome 3
Synonyms	3M3; 3-M syndrome 3; CCDC8 3-M syndrome; 3M syndrome 3; 3-M syndrome caused by mutation in CCDC8; three M syndrome type 3; three M syndrome 3
Definition	Any 3-M syndrome in which the cause of the disease is a mutation in the CCDC8 gene.
Disease Hierarchy	DISZ93BO: Primordial dwarfism and slender bone disorder DISGKJY3: 3-M syndrome DISXWV3X: 3M syndrome 3
Disease Identifiers	MONDO ID MONDO_0013627 UMLS CUI C3280146 OMIM ID 614205 MedGen ID 481776

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
CCDC8	OTO295IH	Strong	Autosomal recessive	[1]
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References

1	Exome sequencing identifies CCDC8 mutations in 3-M syndrome, suggesting that CCDC8 contributes in a pathway with CUL7 and OBSL1 to control human growth. Am J Hum Genet. 2011 Jul 15;89(1):148-53. doi: 10.1016/j.ajhg.2011.05.028. Epub 2011 Jul 7.