Details of Disease | DrugMAP

General Information of Disease (ID: DISTP32F)

Disease Name	Ehlers-Danlos syndrome, cardiac valvular type
Synonyms	Ehlers-Danlos syndrome, arthrochalasis type; EDSCV; Cardiac valvular form of Ehlers-Danlos syndrome; cvEDS; Cardiac-valvular EDS; Ehlers-Danlos syndrome, autosomal recessive, Cardiac valvular form; Ehlers-Danlos syndrome, CARDIAC valvular type; Cardiac valvular form of autosomal recessive Ehlers-Danlos syndrome; Ehlers-Danlos syndrome, autosomal recessive, CARDIAC valvular form; Cardiac-valvular Ehlers-Danlos syndrome; EDS, cardiac valvular type
Definition	Ehlers-Danlos syndrome, cardiac valvular type is a form of Ehlers-Danlos syndrome characterized by soft skin, skin hyperextensibility, easy bruisability, atrophic scar formation, joint hypermobility and cardiac valvular defects comprising mitral and/or aortic valve insufficiency.
Disease Hierarchy	DISMT2VZ: Cardiogenetic disease DISSVBRR: Ehlers-Danlos syndrome DISTP32F: Ehlers-Danlos syndrome, cardiac valvular type
Disease Identifiers	MONDO ID MONDO_0009159 UMLS CUI C4303789 OMIM ID 225320 MedGen ID 929458 Orphanet ID 230851 SNOMED CT ID 720858001

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

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 recessive	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
COL1A2	OTY7G382	Definitive	Autosomal recessive	[2]
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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.