Details of Disease | DrugMAP

General Information of Disease (ID: DISK4W8M)

Disease Name	Ehlers-Danlos/osteogenesis imperfecta syndrome
Synonyms	EDS/OI syndrome
Definition	Ehlers-Danlos/osteogenesis imperfecta syndrome is an association of the features of Ehlers-Danlos syndrome and osteogenesis imperfecta, characterized by generalized joint hypermobility and dislocations, skin hyperextensibility and/or translucency, and easy bruising as the predominant clinical features, while being invariably associated with mild signs of osteogenesis imperfecta, including short stature, blue sclera, and osteopenia or fractures.
Disease Hierarchy	DISSVBRR: Ehlers-Danlos syndrome DISK4W8M: Ehlers-Danlos/osteogenesis imperfecta syndrome
Disease Identifiers	MONDO ID MONDO_0016470 UMLS CUI C4518787 MedGen ID 1386497 Orphanet ID 230857 SNOMED CT ID 733457006

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
COL1A2	TTUABC1	Supportive	Autosomal dominant	[1]
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This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
COL1A1	OTI31178	Supportive	Autosomal dominant	[2]
COL1A2	OTY7G382	Supportive	Autosomal dominant	[1]
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References

1	Helical mutations in type I collagen that affect the processing of the amino-propeptide result in an Osteogenesis Imperfecta/Ehlers-Danlos Syndrome overlap syndrome. Orphanet J Rare Dis. 2013 May 21;8:78. doi: 10.1186/1750-1172-8-78.
2	Mutations near amino end of alpha1(I) collagen cause combined osteogenesis imperfecta/Ehlers-Danlos syndrome by interference with N-propeptide processing. J Biol Chem. 2005 May 13;280(19):19259-69. doi: 10.1074/jbc.M414698200. Epub 2005 Feb 22.