Details of Disease

General Information of Disease (ID: DIS4BR9L)

• Disease Name: Ehlers-Danlos syndrome, classic type, 1
• Synonyms: Ehlers-Danlos syndrome, type 1; type I Ehlers-Danlos syndrome; EDSCL1; Ehlers-Danlos syndrome, classic type, 1; Ehlers-Danlos syndrome, type I; EDS I
• Definition: Any Ehlers-Danlos syndrome in which the cause of the disease is a mutation in the COL5A1 gene.
• Disease Hierarchy:
  DISSVBRR: Ehlers-Danlos syndrome
  DISKOTBA: Ehlers-Danlos syndrome, classic type
  DIS4BR9L: Ehlers-Danlos syndrome, classic type, 1
• Disease Identifiers:
  MONDO ID: MONDO_0019567
  MESH ID: C536194
  UMLS CUI: C0268335
  OMIM ID: 130000
  MedGen ID: 78660
  SNOMED CT ID: 83470009

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 4 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
LUM	OTSRC874	Limited	Biomarker	[1]
COL1A1	OTI31178	Moderate	Autosomal dominant	[2]
COL5A1	OT24078H	Strong	Autosomal dominant	[3]
COL5A2	OT5VOSQE	Strong	Biomarker	[4]

References

• [1] Lumican suppresses cell proliferation and aids Fas-Fas ligand mediated apoptosis: implications in the cornea.Exp Eye Res. 2004 May;78(5):957-71. doi: 10.1016/j.exer.2003.12.006.
• [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.
• [3] Clinical and molecular characterization of 40 patients with classic Ehlers-Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutations. Orphanet J Rare Dis. 2013 Apr 12;8:58. doi: 10.1186/1750-1172-8-58.
• [4] Homozygosity and Heterozygosity for Null Col5a2 Alleles Produce Embryonic Lethality and a Novel Classic Ehlers-Danlos Syndrome-Related Phenotype.Am J Pathol. 2015 Jul;185(7):2000-11. doi: 10.1016/j.ajpath.2015.03.022. Epub 2015 May 16.