Details of Disease

General Information of Disease (ID: DISKOTBA)

• Disease Name: Ehlers-Danlos syndrome, classic type
• Synonyms: Ehlers-Danlos syndrome classical type; Ehlers-Danlos syndrome type 1 (formerly); Ehlers-Danlos syndrome, type II; Ehlers Danlos syndrome, mild classic type, formerly; Ehlers-Danlos syndrome, type I, formerly; Ehlers Danlos syndrome, mitis type, formerly; EDS II, formerly; Ehlers Danlos syndrome, mild classic type; Ehlers-Danlos syndrome, type II, formerly; EDS II; Ehlers Danlos syndrome, mitis type; Ehlers-Danlos syndrome, severe classic type, formerly; Ehlers-Danlos syndrome, gravis type, formerly; EDS I, formerly; Ehlers-Danlos syndrome, gravis type; Ehlers-Danlos syndrome type 2; Ehlers-Danlos syndrome, type I; Ehlers-Danlos syndrome type 2 (formerly); classic Ehlers-Danlos syndrome; Ehlers-Danlos syndrome, severe classic type; EDS I; classical Ehlers-Danlos syndrome; EDS, classic type; Ehlers-Danlos syndrome, classic type; Ehlers-Danlos syndrome classic type
• Definition: Ehlers-Danlos syndrome, classic type (cEDS) is a form of Ehlers-Danlos syndrome that affects the connective tissue and is characterized by skin hyperextensibility, widened atrophic scars and joint hypermobility.
• Disease Hierarchy:
  DISSVBRR: Ehlers-Danlos syndrome
  DIS3HIWD: Autosomal dominant disease
  DISKOTBA: Ehlers-Danlos syndrome, classic type
• Disease Identifiers:
  MONDO ID: MONDO_0007522
  UMLS CUI: C4225429
  MedGen ID: 909864
  Orphanet ID: 287
  SNOMED CT ID: 715318006

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
COL1A1	OTI31178	Supportive	Autosomal dominant	[1]
COL5A1	OT24078H	Definitive	Autosomal dominant	[2]
COL5A2	OT5VOSQE	Definitive	Autosomal dominant	[2]

References

• [1] Classical Ehlers-Danlos syndrome caused by a mutation in type I collagen. Am J Hum Genet. 2000 Apr;66(4):1398-402. doi: 10.1086/302859. Epub 2000 Mar 17.
• [2] Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.