Details of Disease | DrugMAP

General Information of Disease (ID: DISRDFCX)

Disease Name	Ehlers-Danlos syndrome, dermatosparaxis type
Synonyms	EDS7C; dEDS; EDSDERMS; dermatosparaxis Ehlers-Danlos syndrome; dermatosparaxis; Ehlers-Danlos syndrome, type VII, autosomal recessive; Ehlers-Danlos syndrome type 7C (formerly); EDS 7C; dermatosparaxis EDS; Ehlers-Danlos syndrome, dermatosparaxis type; EDS VIIC; Ehlers-Danlos syndrome type 7C
Definition	A form of Ehlers-Danlos syndrome (EDS) characterized by extreme skin fragility and laxity, a prominent facial gestalt, excessive bruising and, sometimes, major complications due to visceral and vascular fragility.
Disease Hierarchy	DISSVBRR: Ehlers-Danlos syndrome DISRDFCX: Ehlers-Danlos syndrome, dermatosparaxis type
Disease Identifiers	MONDO ID MONDO_0009161 MESH ID C567527 UMLS CUI C2700425 OMIM ID 225410 MedGen ID 397792 Orphanet ID 1901 SNOMED CT ID 1237225007

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
ADAMTS4	TTYG6BU	Definitive	Genetic Variation	[1]
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This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ADAMTS3	OT2U6VF5	Strong	Biomarker	[2]
ADAMTS2	OTTK22NO	Definitive	Autosomal recessive	[3]
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References

1	Transforming growth factor-beta induces secretion of activated ADAMTS-2. A procollagen III N-proteinase.J Biol Chem. 2003 May 23;278(21):19549-57. doi: 10.1074/jbc.M300767200. Epub 2003 Mar 19.
2	Procollagen II amino propeptide processing by ADAMTS-3. Insights on dermatosparaxis.J Biol Chem. 2001 Aug 24;276(34):31502-9. doi: 10.1074/jbc.M103466200. Epub 2001 Jun 14.
3	Human Ehlers-Danlos syndrome type VII C and bovine dermatosparaxis are caused by mutations in the procollagen I N-proteinase gene. Am J Hum Genet. 1999 Aug;65(2):308-17. doi: 10.1086/302504.