Details of Disease

General Information of Disease (ID: DISSQ1CQ)

• Disease Name: Ehlers-Danlos syndrome, arthrochalasia type
• Synonyms: Ehlers-Danlos syndrome, type VIIA, autosomal dominant; arthrochalasis multiplex congenita; arthrochalasia Ehlers-Danlos syndrome; EDS VII, mutant procollagen type; AEDS; Ehlers-Danlos syndrome, arthrochalasia type, 1; Ehlers-Danlos syndrome type 7A (formerly); arthrochalasia EDS; EDSARTH1; EDS7A (formerly); Ehlers-Danlos syndrome, type VII, autosomal dominant; EDS 7A; EDS 7B; Ehlers-Danlos syndrome type 7; EDS VII; Ehlers-Danlos syndrome, arthrochalasia type; Ehlers-Danlos syndrome, type VII
• Definition: Arthrochalasia Ehlers-Danlos syndrome (aEDS) is an inherited connective tissue disorder that is caused by defects in a protein called collagen. Common symptoms include severe joint hypermobility ; congenital hip dislocation; fragile, hyperextensible skin; hypotonia ; and kyphoscoliosis (kyphosis and scoliosis). EDS, arthrochalasia type is caused by changes (mutations) in the COL1A1 gene or the COL1A2 gene and is inherited in an autosomal dominant manner. Treatment and management is focused on preventing serious complications and relieving associated signs and symptoms.
• Disease Hierarchy:
  DISSVBRR: Ehlers-Danlos syndrome
  DISSQ1CQ: Ehlers-Danlos syndrome, arthrochalasia type
• Disease Identifiers:
  MONDO ID: MONDO_0007525
  MESH ID: C562625
  UMLS CUI: C4551623
  OMIM ID: 130060
  MedGen ID: 1645042
  Orphanet ID: 1899

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
COL1A2	TTUABC1	Strong	Biomarker	[1]
COL1A2	TTUABC1	Definitive	Autosomal dominant	[2]

This Disease Is Related to 2 DOT Molecule(s)

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

References

• [1] Total absence of the alpha2(I) chain of collagen type I causes a rare form of Ehlers-Danlos syndrome with hypermobility and propensity to cardiac valvular problems.J Med Genet. 2006 Jul;43(7):e36. doi: 10.1136/jmg.2005.038224.
• [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.