musculocontractural type 1 Ehlers-Danlos Syndrome

An autosomal recessive form of Ehlers-Danlos syndrome characterized by craniofacial dysmorphism, congenital CONTRACTURES of thumbs and fingers, clubfeet, severe kyphoscoliosis, muscular HYPOTONIA, hyperextensible thin skin with easy bruisability and atrophic scarring, wrinkled palms, joint hypermobility, and ocular involvement. Mutations in the CHST14 gene have been identified. OMIM: 601776

Also Known As:

Networked: 5 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Ehlers-Danlos Syndrome (Syndrome, Ehlers-Danlos)

Experts

1.	Fukushima, Yoshimitsu: 2 articles (12/2011 - 08/2011)
2.	Kosho, Tomoki: 2 articles (12/2011 - 08/2011)
3.	Matsumoto, Naomichi: 2 articles (12/2011 - 08/2011)
4.	Miyake, Noriko: 2 articles (12/2011 - 08/2011)
5.	Baenziger, Jacques U: 2 articles (04/2011 - 12/2009)
6.	Dündar, Munis: 2 articles (04/2011 - 12/2009)
7.	Janecke, Andreas R: 2 articles (04/2011 - 12/2009)
8.	Müller, Thomas: 2 articles (04/2011 - 12/2009)
9.	Axelsson, Jakob: 1 article (05/2013)
10.	Bartolini, Barbara: 1 article (05/2013)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to musculocontractural type 1 Ehlers-Danlos Syndrome:

1.	Dermatan SulfateIBA 12/01/2011 - "A response to: loss of dermatan-4-sulfotransferase 1 (D4ST1/CHST14) function represents the first dermatan sulfate biosynthesis defect, "dermatan sulfate-deficient Adducted Thumb-Clubfoot Syndrome". " 04/01/2011 - "Loss of dermatan-4-sulfotransferase 1 (D4ST1/CHST14) function represents the first dermatan sulfate biosynthesis defect, "dermatan sulfate-deficient adducted thumb-clubfoot syndrome"." 12/01/2009 - "Our results indicate that adducted thumb-clubfoot syndrome is a disorder resulting from a defect specific to dermatan sulfate biosynthesis and emphasize roles for dermatan sulfate in human development and extracellular-matrix maintenance." 05/01/2013 - "The role of iduronic acid in chondroitin/dermatan sulfate is highlighted by the vast changes in connective tissue features in patients with a new type of Ehler-Danlos syndrome: adducted thumb-clubfoot syndrome. "
2.	2-Oxoglutarate 5-Dioxygenase Procollagen-Lysine (Lysyl Hydroxylase)IBA 08/01/2011 - "Loss-of-function mutations in CHST14, dermatan 4-O-sulfotransferase 1 (D4ST1) deficiency, have recently been found to cause adducted thumb-clubfoot syndrome (ATCS; OMIM#601776) and a new type of Ehlers-Danlos syndrome (EDS) coined as EDS Kosho Type (EDSKT) [Miyake et al., 2010], as well as a subset of kyphoscoliosis type EDS without lysyl hydroxylase deficiency (EDS VIB) coined as musculocontractural EDS (MCEDS) [Malfait et al., 2010]. "
3.	Iduronic Acid (Iduronate)IBA 05/01/2013 - "The role of iduronic acid in chondroitin/dermatan sulfate is highlighted by the vast changes in connective tissue features in patients with a new type of Ehler-Danlos syndrome: adducted thumb-clubfoot syndrome. "
4.	ChondroitinIBA 05/01/2013 - "The role of iduronic acid in chondroitin/dermatan sulfate is highlighted by the vast changes in connective tissue features in patients with a new type of Ehler-Danlos syndrome: adducted thumb-clubfoot syndrome. "