Details of Disease | DrugMAP

General Information of Disease (ID: DISQXOLC)

Disease Name	X-linked Ehlers-Danlos syndrome
Synonyms	Ehlers-Danlos syndrome, type 5; EDS 5; EDS5; Ehlers-Danlos syndrome, type V; Ehlers-Danlos syndrome type 5; Ehlers-Danlos syndrome, X-linked; EDS V
Definition	Ehlers-Danlos syndromes (EDS) form a heterogeneous group of hereditary connective tissue diseases characterized by joint hyperlaxity, cutaneous hyperelasticity and tissue fragility. EDS type V is characterized by hyperextensible skin but tissue fragility and joint hyperlaxity are mild. This form of EDS is very rare and has been described in only two families so far. Other reported features include congenital heart disease, hernias and short stature. Transmission is X-linked recessive.
Disease Hierarchy	DISSVBRR: Ehlers-Danlos syndrome DIS3PN9X: X-linked disease DISQXOLC: X-linked Ehlers-Danlos syndrome
Disease Identifiers	MONDO ID MONDO_0010586 MESH ID C536197 UMLS CUI C0268341 MedGen ID 75671 Orphanet ID 75497 SNOMED CT ID 67202007

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
FLNA	TTSTRZY	Supportive	X-linked	[1]
FLNA	TTSTRZY	Strong	GermlineCausalMutation	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
FLNA	OTYZ9JXM	Supportive	X-linked	[1]
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References

1	Ehlers-Danlos syndrome with lethal cardiac valvular dystrophy in males carrying a novel splice mutation in FLNA. Am J Med Genet A. 2017 Jan;173(1):169-176. doi: 10.1002/ajmg.a.38004. Epub 2016 Oct 14.