Details of Disease | DrugMAP

General Information of Disease (ID: DISB3QMD)

Disease Name	Ehlers-Danlos syndrome, periodontitis type
Synonyms	Ehlers-Danlos syndrome, type 8; EDS VIII (formerly); periodontal Ehlers-Danlos syndrome; Ehlers-Danlos syndrome, periodontosis type; EDS8 (formerly); Ehlers-Danlos syndrome, type VIII; EDS8; EDS 8; Ehlers-Danlos syndrome, type VIII (formerly); Ehlers-Danlos syndrome type 8 (formerly); periodontal EDS; pEDS; Ehlers-Danlos syndrome, periodontitis type; EDS VIII; Ehlers-Danlos syndrome type 8
Definition	Ehlers-Danlos syndromes (EDS) form a heterogeneous group of hereditary connective tissue diseases characterized by joint hyperlaxity, cutaneous hyperelasticity and tissue fragility.
Disease Hierarchy	DISSVBRR: Ehlers-Danlos syndrome DISB3QMD: Ehlers-Danlos syndrome, periodontitis type
Disease Identifiers	MONDO ID MONDO_0007527 MESH ID C562626 UMLS CUI C0268347 MedGen ID 82791 Orphanet ID 75392 SNOMED CT ID 50869007

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
C1S	TT7LRQH	Supportive	Autosomal dominant	[1]
C1S	TT7LRQH	Strong	GermlineCausalMutation	[1]
------------------------------------------------------------------------------------

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
C1R	OTA0ZNIU	Supportive	Autosomal dominant	[1]
C1S	OTCIZU2A	Supportive	Autosomal dominant	[1]
------------------------------------------------------------------------------------

References

1	Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode Subcomponents C1r and C1s of Complement. Am J Hum Genet. 2016 Nov 3;99(5):1005-1014. doi: 10.1016/j.ajhg.2016.08.019. Epub 2016 Oct 13.