Details of Disease

General Information of Disease (ID: DISPTVFJ)

Disease Name Ehlers-Danlos syndrome due to tenascin-X deficiency
Synonyms
EDSCLL; EDS due to Tnx deficiency; clEDS; EDS due to TNX deficiency; Ehlers-Danlos syndrome, classic-like; classical-like EDS; classical-like Ehlers-Danlos syndrome; TNX deficiency; Tnx deficiency; Ehlers-Danlos-like syndrome due to tenascin-X deficiency; Ehlers-Danlos syndrome due to tenascin-X deficiency; EDS, classic-like type; Ehlers-Danlos syndrome, classic-like, 1; Ehlers-Danlos syndrome, classic-like type
Disease Hierarchy
DISSVBRR: Ehlers-Danlos syndrome
DISPTVFJ: Ehlers-Danlos syndrome due to tenascin-X deficiency
Disease Identifiers
MONDO ID
MONDO_0011670
MESH ID
C536193
UMLS CUI
C1848029
OMIM ID
606408
MedGen ID
336244
Orphanet ID
230839
SNOMED CT ID
778022009

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
TNXB OTVBWAV5 Definitive Autosomal recessive [1]
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References

1 Recognizing the tenascin-X deficient type of Ehlers-Danlos syndrome: a cross-sectional study in 17 patients. Clin Genet. 2017 Mar;91(3):411-425. doi: 10.1111/cge.12853. Epub 2016 Nov 4.