Details of Disease | DrugMAP

General Information of Disease (ID: DIS4VQMI)

Disease Name	Ehlers-Danlos syndrome, periodontal type 1
Synonyms	Ehlers-Danlos syndrome, periodontitis type; Ehlers-Danlos syndrome, type 8; Ehlers-Danlos syndrome, periodontosis type; Ehlers-Danlos syndrome, periodontal type, 1; EDS 8; EDSPD1
Disease Hierarchy	DISB3QMD: Ehlers-Danlos syndrome, periodontitis type DIS4VQMI: Ehlers-Danlos syndrome, periodontal type 1
Disease Identifiers	MONDO ID MONDO_0020684 UMLS CUI C4551499 OMIM ID 130080 MedGen ID 1642148

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
C1S	TT7LRQH	Moderate	Autosomal dominant	[1]
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This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
C1S	OTCIZU2A	Moderate	Autosomal dominant	[1]
C1R	OTA0ZNIU	Strong	Autosomal dominant	[2]
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References

1	Clinical Validity of Genes for Heritable Thoracic Aortic Aneurysm and Dissection. J Am Coll Cardiol. 2018 Aug 7;72(6):605-615. doi: 10.1016/j.jacc.2018.04.089.
2	The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.