Defective CHST14 causes EDS, musculocontractural type

Stable Identifier
R-HSA-3595174
Type
Pathway
Species
Homo sapiens
Synonyms
Defective CHST14 causes Ehlers-Danlos syndrome musculocontractural type
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Carbohydrate sulfotransferase 14 (CHST14 also known as D4ST-1) mediates the transfer of sulfate to position 4 of further N-acetylgalactosamine (GalNAc) residues of dermatan sulfate (DS). Defects in CHST14 cause Ehlers-Danlos syndrome, musculocontractural type (MIM:601776). The Ehlers-Danlos syndromes (EDS) are a group of connective tissue disorders that share common features such as skin hyperextensibility, articular hypermobility and tissue fragility (Beighton et al. 1998). The musculocontractural form of EDS (MIM:601776) include distinctive characteristics such as craniofacial dysmorphism, congenital contractures of fingers and thumbs, clubfeet, severe kyphoscoliosis and muscular hypotonia (Malfait et al. 2010).

Literature References
PubMed ID Title Journal Year
9557891 Ehlers-Danlos syndromes: revised nosology, Villefranche, 1997. Ehlers-Danlos National Foundation (USA) and Ehlers-Danlos Support Group (UK)

Beighton, P, De Paepe, A, Steinmann, B, Tsipouras, P, Wenstrup, RJ

Am. J. Med. Genet. 1998
20842734 Musculocontractural Ehlers-Danlos Syndrome (former EDS type VIB) and adducted thumb clubfoot syndrome (ATCS) represent a single clinical entity caused by mutations in the dermatan-4-sulfotransferase 1 encoding CHST14 gene

Malfait, F, Syx, D, Vlummens, P, Symoens, S, Nampoothiri, S, Hermanns-LĂȘ, T, Van Laer, L, De Paepe, A

Hum. Mutat. 2010
Participants
Participant Of
Disease
Name Identifier Synonyms
Ehlers-Danlos syndrome 13359 Cutis hyperelastica, elastic skin
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