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Kimberley Type Spondyloepiphyseal Dysplasia

Also Known As:

Spondyloepiphyseal Dysplasia, Kimberley Type

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

Disease Context: Research Results

Musculoskeletal Diseases: 719
- Bone Diseases: 5863
  - Developmental Bone Diseases: 153
    - Osteochondrodysplasias: 592
      - Kimberley Type Spondyloepiphyseal Dysplasia: 2
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Inborn Genetic Diseases: 11939
  - Osteochondrodysplasias: 592
    - Kimberley Type Spondyloepiphyseal Dysplasia: 2

Related Diseases

1.	Osteochondritis Dissecans
2.	Osteoarthritis
3.	Aggrecan Type Spondyloepimetaphyseal Dysplasia

Experts

1.	Yin, Li-Ping: 1 article (03/2022)
2.	Zheng, Hong-Xue: 1 article (03/2022)
3.	Zhu, Hong: 1 article (03/2022)
4.	Aza-Carmona, Miriam: 1 article (01/2018)
5.	Barreda-Bonis, Ana C: 1 article (01/2018)
6.	Benito-Sanz, Sara: 1 article (01/2018)
7.	Carcavilla-Urquí, Atilano: 1 article (01/2018)
8.	Del Pozo, Angela: 1 article (01/2018)
9.	Dinis, Isabel: 1 article (01/2018)
10.	González-Casado, Isabel: 1 article (01/2018)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Kimberley Type Spondyloepiphyseal Dysplasia:

1.

Aggrecans (Aggrecan)IBA

03/26/2022 - "Mutations in the aggrecan (ACAN) gene are identified in patients with: spondyloepiphyseal dysplasia, Kimberley type; short stature with advanced bone age (BA); in the presence or absence of heterozygous ACAN mutation-induced early-onset osteoarthritis and/or osteochondritis dissecans; and spondyloepimetaphyseal dysplasia, ACAN type. "
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. "