Details of Disease

General Information of Disease (ID: DISHSKS7)

• Disease Name: 3M syndrome 1
• Synonyms: 3M syndrome; Dolichospondylic dysplasia; Le Merrer syndrome; Yakut short stature syndrome; gloomy face syndrome; 3M1; 3-M syndrome caused by mutation in CUL7; 3-M syndrome 1; Cul7 3-M syndrome; 3-M syndrome caused by mutation in Cul7; three M syndrome type 1; CUL7 3-M syndrome; three M syndrome 1
• Definition: Any 3-M syndrome in which the cause of the disease is a mutation in the CUL7 gene.
• Disease Hierarchy:
  DISZ93BO: Primordial dwarfism and slender bone disorder
  DISGKJY3: 3-M syndrome
  DISHSKS7: 3M syndrome 1
• Disease Identifiers:
  MONDO ID: MONDO_0010117
  MESH ID: C535314
  UMLS CUI: C2678312
  OMIM ID: 273750
  MedGen ID: 395592

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CUL7	TTI8R0P	moderate	Genetic Variation	[1]
CUL7	TTI8R0P	Definitive	Autosomal recessive	[2]

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CCDC8	OTO295IH	Strong	GermlineCausalMutation	[3]
CUL7	OTYN8CHX	Definitive	Autosomal recessive	[2]

References

• [1] Mutations in CUL7, OBSL1 and CCDC8 in 3-M syndrome lead to disordered growth factor signalling.J Mol Endocrinol. 2012 Oct 30;49(3):267-75. doi: 10.1530/JME-12-0034. Print 2012 Dec.
• [2] Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.
• [3] 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.