Details of Disease

General Information of Disease (ID: DIS6WZCC)

• Disease Name: Ehlers-danlos syndrome, arthrochalasia type, 2
• Synonyms: EDSARTH2; EDS 7B; Ehlers-Danlos syndrome, type VIIb, Autosomal dominant; Ehlers-Danlos syndrome, arthrochalasia type, 2; EDS VIIB
• Disease Hierarchy:
  DISSVBRR: Ehlers-Danlos syndrome
  DIS6WZCC: Ehlers-danlos syndrome, arthrochalasia type, 2

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
COL1A2	TTUABC1	Definitive	Autosomal dominant	[1]

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
COL1A2	OTY7G382	Definitive	Autosomal dominant	[1]

References

• [1] The first Japanese case of the arthrochalasia type of Ehlers-Danlos syndrome with COL1A2 gene mutation. Gene. 2014 Mar 15;538(1):199-203. doi: 10.1016/j.gene.2014.01.033. Epub 2014 Jan 17.