Details of Disease | DrugMAP

General Information of Disease (ID: DISNDKU3)

Disease Name	Ehlers-Danlos syndrome, classic type, 2
Synonyms	Ehlers-Danlos syndrome, type Ii; Ehlers Danlos syndrome, mitis type, formerly; EDS II, formerly; Ehlers Danlos syndrome, mild Classic type, formerly; Ehlers Danlos syndrome, mild Classic type; Ehlers Danlos syndrome, mitis type; Ehlers-Danlos syndrome, type Ii, formerly; EDS II; EDSCL2; Ehlers-Danlos syndrome, classic type, 2
Definition	Any Ehlers-Danlos syndrome in which the cause of the disease is a mutation in the COL5A2 gene.
Disease Hierarchy	DISSVBRR: Ehlers-Danlos syndrome DISKOTBA: Ehlers-Danlos syndrome, classic type DISNDKU3: Ehlers-Danlos syndrome, classic type, 2
Disease Identifiers	MONDO ID MONDO_0019568 MESH ID C536195 UMLS CUI C0268336 OMIM ID 130010 MedGen ID 120628 SNOMED CT ID 20766005

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
COL5A1	OT24078H	Strong	Biomarker	[1]
COL5A2	OT5VOSQE	Strong	Autosomal dominant	[2]
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References

1	A point mutation in an intronic branch site results in aberrant splicing of COL5A1 and in Ehlers-Danlos syndrome type II in two British families.Am J Hum Genet. 1998 Aug;63(2):390-8. doi: 10.1086/301948.
2	The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.