Details of Disease

General Information of Disease (ID: DIS6XBQP)

• Disease Name: Ehlers-Danlos syndrome, musculocontractural type
• Synonyms: EDSMC; Ehlers-Danlos syndrome, type Vib; Ehlers-Danlos syndrome, musculocontractural type 1; autosomal recessive adducted thumb-club foot syndrome; EDSMC1; Dundar syndrome; adducted thumbs Dundar type; Ehlers-Danlos syndrome, type VIB, formerly; EDSmc; EDS6B, formerly; musculocontractural EDS; arthrogryposis, distal, with peculiar facies and hydronephrosis; adducted thumb-club foot syndrome; adducted thumb clubfoot syndrome; Ehlers-Danlos syndrome, musculocontractural type, 1; adducted thumb, clubfoot, and progressive joint and skin laxity syndrome; Ehlers-Danlos syndrome, type Vib, formerly; Ehlers-Danlos syndrome, arthrogryposic type; D4ST1-deficient EDS; adducted thumb-clubfoot syndrome; EDS, arthrogryposic type; ATCS; Ehlers-Danlos syndrome, Kosho type; D4ST1-deficient Ehlers-Danlos syndrome; musculocontractural Ehlers-Danlos syndrome; CHST14-related EDS; CHST14-related Ehlers-Danlos syndrome; EDS, musculocontractural type; EDS, Kosho type; adducted thumbs-arthrogryposis syndrome, Dundar type; MCEDS
• Definition: Ehlers-Danlos syndrome, musculocontractural type is a congenital form of Ehlers-Danlos syndrome characterized by distinct craniofacial features, multiple contractures, progressive joint and skin laxity, adduction-flexion contractures of the thumbs, talipes equinovarus, bruisability and multisystem fragility-related manifestations.
• Disease Hierarchy:
  DISMT2VZ: Cardiogenetic disease
  DIS3QIEL: Distal arthrogryposis
  DISSVBRR: Ehlers-Danlos syndrome
  DISMFQKM: Developmental anomaly of metabolic origin
  DIS400QP: Congenital disorder of glycosylation
  DIS6XBQP: Ehlers-Danlos syndrome, musculocontractural type
• Disease Identifiers:
  MONDO ID: MONDO_0011142
  MESH ID: C000600608
  UMLS CUI: C1866294
  OMIM ID: 601776
  MedGen ID: 356497
  Orphanet ID: 2953
  SNOMED CT ID: 720860004

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CHST14	OT3FLH7U	Supportive	Autosomal recessive	[1]
DSE	OTQ108VJ	Supportive	Autosomal recessive	[2]

References

• [1] Extracellular matrix and platelet function in patients with musculocontractural Ehlers-Danlos syndrome caused by mutations in the CHST14 gene. Am J Med Genet A. 2012 Jun;158A(6):1344-54. doi: 10.1002/ajmg.a.35339. Epub 2012 May 11.
• [2] Loss of dermatan sulfate epimerase (DSE) function results in musculocontractural Ehlers-Danlos syndrome. Hum Mol Genet. 2013 Sep 15;22(18):3761-72. doi: 10.1093/hmg/ddt227. Epub 2013 May 23.