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Aggrecan Type Spondyloepimetaphyseal Dysplasia

Also Known As:

Spondyloepimetaphyseal Dysplasia, Aggrecan Type; SEMD, Aggrecan Type

Networked: 2 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Musculoskeletal Diseases: 719
- Bone Diseases: 5863
  - Developmental Bone Diseases: 153
    - Aggrecan Type Spondyloepimetaphyseal Dysplasia: 2
- Musculoskeletal Abnormalities: 43
  - Craniofacial Abnormalities: 203
    - Aggrecan Type Spondyloepimetaphyseal Dysplasia: 2
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Congenital Abnormalities: 25723
  - Musculoskeletal Abnormalities: 43
    - Craniofacial Abnormalities: 203
      - Aggrecan Type Spondyloepimetaphyseal Dysplasia: 2

Related Diseases

1.	Osteochondritis Dissecans
2.	Kimberley Type Spondyloepiphyseal Dysplasia

Experts

1.	Aza-Carmona, Miriam: 1 article (01/2018)
2.	Barreda-Bonis, Ana C: 1 article (01/2018)
3.	Benito-Sanz, Sara: 1 article (01/2018)
4.	Carcavilla-Urquí, Atilano: 1 article (01/2018)
5.	Del Pozo, Angela: 1 article (01/2018)
6.	Dinis, Isabel: 1 article (01/2018)
7.	González-Casado, Isabel: 1 article (01/2018)
8.	Heath, Karen E: 1 article (01/2018)
9.	Lechuga-Sancho, Alfonso: 1 article (01/2018)
10.	Martos-Moreno, Gabriel A: 1 article (01/2018)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Aggrecan Type Spondyloepimetaphyseal Dysplasia:

1.	Aggrecans (Aggrecan)IBA 01/01/2018 - "Mutations in the aggrecan gene (ACAN) have been identified in two autosomal dominant skeletal dysplasias, spondyloepiphyseal dysplasia, Kimberley type (SEDK), and osteochondritis dissecans, as well as in a severe recessive dysplasia, spondyloepimetaphyseal dysplasia, aggrecan type. " 01/01/2009 - "A recessive skeletal dysplasia, SEMD aggrecan type, results from a missense mutation affecting the C-type lectin domain of aggrecan."
2.	C-Type Lectins (C-Type Lectin)IBA 01/01/2009 - "A recessive skeletal dysplasia, SEMD aggrecan type, results from a missense mutation affecting the C-type lectin domain of aggrecan."