Spondyloepimetaphyseal Dysplasia With Joint Laxity

Also Known As:

SEMDJL

Networked: 4 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Musculoskeletal Diseases: 719
- Joint Diseases: 6509
  - Joint Instability: 584
    - Spondyloepimetaphyseal Dysplasia With Joint Laxity: 4
- Bone Diseases: 5863
  - Developmental Bone Diseases: 153
    - Osteochondrodysplasias: 592
      - Spondyloepimetaphyseal Dysplasia With Joint Laxity: 4
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Inborn Genetic Diseases: 11939
  - Osteochondrodysplasias: 592
    - Spondyloepimetaphyseal Dysplasia With Joint Laxity: 4

Related Diseases

1.	Ehlers-Danlos Syndrome (Syndrome, Ehlers-Danlos)
2.	Spondyloepimetaphyseal Dysplasia With Joint Laxity
3.	Joint Instability (Joint Laxity)
4.	Al-Gazali Syndrome

Experts

1.	Mizumoto, Shuji: 2 articles (03/2017 - 06/2013)
2.	Sugahara, Kazuyuki: 2 articles (03/2017 - 06/2013)
3.	Bruselles, Alessandro: 1 article (10/2021)
4.	Butera, Gianfranco: 1 article (10/2021)
5.	Chillemi, Giovanni: 1 article (10/2021)
6.	Ciolfi, Andrea: 1 article (10/2021)
7.	Leone, Antonio: 1 article (10/2021)
8.	Leoni, Chiara: 1 article (10/2021)
9.	Onesimo, Roberta: 1 article (10/2021)
10.	Pantaleoni, Francesca: 1 article (10/2021)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Spondyloepimetaphyseal Dysplasia With Joint Laxity:

1.	GlycosaminoglycansIBA 10/01/2021 - "Biallelic mutations in B3GALT6, coding for a galactosyltransferase involved in the synthesis of glycosaminoglycans (GAGs), have been associated with various clinical conditions, causing spondyloepimetaphyseal dysplasia with joint laxity type 1 (SEMDJL1 or SEMDJL Beighton type), Al-Gazali syndrome (ALGAZ), and a severe progeroid form of Ehlers-Danlos syndrome (EDSSPD2). " 03/01/2015 - "Mutations in B3GALT6, encoding the galactosyltransferase II (GalT-II) involved in the synthesis of the glycosaminoglycan (GAG) linkage region of proteoglycans (PGs), have recently been associated with a spectrum of connective tissue disorders, including spondyloepimetaphyseal dysplasia with joint laxity type 1 (SEMDJL1) and Ehlers-Danlos-like syndrome. "
2.	Racemases and Epimerases (Epimerases and Racemases)IBA 03/27/2017 - "Furthermore, mutations in human genes encoding the glycosyltransferases, epimerases, and sulfotransferases responsible for the biosynthesis of DS chains cause connective tissue disorders including Ehlers-Danlos syndrome and spondyloepimetaphyseal dysplasia with joint laxity characterized by skin hyperextensibility, joint hypermobility, and tissue fragility, and by severe skeletal disorders such as kyphoscoliosis, short trunk, dislocation, and joint laxity. "
3.	GlycosyltransferasesIBA 03/27/2017 - "Furthermore, mutations in human genes encoding the glycosyltransferases, epimerases, and sulfotransferases responsible for the biosynthesis of DS chains cause connective tissue disorders including Ehlers-Danlos syndrome and spondyloepimetaphyseal dysplasia with joint laxity characterized by skin hyperextensibility, joint hypermobility, and tissue fragility, and by severe skeletal disorders such as kyphoscoliosis, short trunk, dislocation, and joint laxity. "
4.	SulfotransferasesIBA 03/27/2017 - "Furthermore, mutations in human genes encoding the glycosyltransferases, epimerases, and sulfotransferases responsible for the biosynthesis of DS chains cause connective tissue disorders including Ehlers-Danlos syndrome and spondyloepimetaphyseal dysplasia with joint laxity characterized by skin hyperextensibility, joint hypermobility, and tissue fragility, and by severe skeletal disorders such as kyphoscoliosis, short trunk, dislocation, and joint laxity. "
5.	Proteoglycans (Proteoglycan)IBA 03/01/2015 - "Mutations in B3GALT6, encoding the galactosyltransferase II (GalT-II) involved in the synthesis of the glycosaminoglycan (GAG) linkage region of proteoglycans (PGs), have recently been associated with a spectrum of connective tissue disorders, including spondyloepimetaphyseal dysplasia with joint laxity type 1 (SEMDJL1) and Ehlers-Danlos-like syndrome. "
6.	GalactosyltransferasesIBA 10/01/2021 - "Biallelic mutations in B3GALT6, coding for a galactosyltransferase involved in the synthesis of glycosaminoglycans (GAGs), have been associated with various clinical conditions, causing spondyloepimetaphyseal dysplasia with joint laxity type 1 (SEMDJL1 or SEMDJL Beighton type), Al-Gazali syndrome (ALGAZ), and a severe progeroid form of Ehlers-Danlos syndrome (EDSSPD2). "
7.	EnzymesIBA 06/06/2013 - "By exome sequencing, we found that B3GALT6 encoding an enzyme involved in the biosynthesis of the GAG linker region is responsible for a severe skeletal dysplasia, spondyloepimetaphyseal dysplasia with joint laxity type 1 (SEMD-JL1). "
8.	galactosylxylosylprotein 3-beta-galactosyltransferaseIBA 03/01/2015 - "Mutations in B3GALT6, encoding the galactosyltransferase II (GalT-II) involved in the synthesis of the glycosaminoglycan (GAG) linkage region of proteoglycans (PGs), have recently been associated with a spectrum of connective tissue disorders, including spondyloepimetaphyseal dysplasia with joint laxity type 1 (SEMDJL1) and Ehlers-Danlos-like syndrome. "